PLIN2

Summary

Gene Symbol: PLIN2
Description: perilipin 2
Alias: ADFP, ADRP, perilipin-2, adipophilin, adipose differentiation-related protein
Species: human

Top Publications

  1. doi Adipophilin affects the expression of TNF-alpha, MCP-1, and IL-6 in THP-1 macrophages
    F L Chen
    Department of Endocrinology, Huashan Hospital, Institute of Endocrinology and Diabetology at Fudan University, Fudan University, Shanghai, China
    Mol Cell Biochem 337:193-9. 2010
  2. pmc Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets
    Christopher Hooper
    Department of Molecular Pharmacology and Therapeutics, Loyola Chicago University, Maywood, IL, USA
    BMC Biol 8:72. 2010
  3. pmc Adipocyte differentiation-related protein is secreted into milk as a constituent of milk lipid globule membrane
    H W Heid
    Division of Cell Biology, German Cancer Research Center, Heidelberg, Federal Republic of Germany
    Biochem J 320:1025-30. 1996
  4. ncbi Adipophilin is a specific marker of lipid accumulation in diverse cell types and diseases
    H W Heid
    Division of Cell Biology, German Cancer Research Center, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Cell Tissue Res 294:309-21. 1998
  5. ncbi Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7
    Yasuyuki Fujimoto
    Department of Molecular Pathology, Faculty of Pharmaceutical Sciences, Teikyo University, 1091 1 Suarashi, Sagamiko, Tsukui, Kanagawa 199 0195, Japan
    Biochim Biophys Acta 1644:47-59. 2004
  6. ncbi Adipophilin increases triglyceride storage in human macrophages by stimulation of biosynthesis and inhibition of beta-oxidation
    Guilhem Larigauderie
    INSERM, U545, Lille, F 59019 France
    FEBS J 273:3498-510. 2006
  7. doi Adipophilin distribution and colocalization with lipid droplets in skeletal muscle
    Christopher S Shaw
    Exercise Metabolism Research Group, School of Sport and Exercise Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
    Histochem Cell Biol 131:575-81. 2009
  8. doi Adipocyte differentiation-related protein and OXPAT in rat and human skeletal muscle: involvement in lipid accumulation and type 2 diabetes mellitus
    Ronnie Minnaard
    NUTRIM School for Nutrition, Toxicology, and Metabolism, Department of Human Movement Sciences, Maastricht University Medical Center, NL 6200 MD Maastricht, The Netherlands
    J Clin Endocrinol Metab 94:4077-85. 2009
  9. pmc Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteins
    Alan R Kimmel
    Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
    J Lipid Res 51:468-71. 2010
  10. doi Adipophilin expression in sebaceous tumors and other cutaneous lesions with clear cell histology: an immunohistochemical study of 117 cases
    Daniel A Ostler
    Departments of Pathology and Dermatology, Baylor College of Medicine, The University of Texas, M D Anderson Cancer Center, Houston, TX, USA
    Mod Pathol 23:567-73. 2010

Research Grants

  1. DUSANKA DANIELLE DERETIC; Fiscal Year: 2016
  2. Marina Gorbatyuk; Fiscal Year: 2014
  3. MOLECULAR MECHANISMS OF PHOTORECEPTOR FUNCTION
    Barry E Knox; Fiscal Year: 2010
  4. John M Sullivan; Fiscal Year: 2016
  5. HYUNG D RYOO; Fiscal Year: 2016
  6. David S Kliger; Fiscal Year: 2016
  7. William A Beltran; Fiscal Year: 2016
  8. David L Farrens; Fiscal Year: 2014
  9. Kathleen Boesze-Battaglia; Fiscal Year: 2016
  10. Samuel E Butcher; Fiscal Year: 2016

Detail Information

Publications227 found, 100 shown here

  1. doi Adipophilin affects the expression of TNF-alpha, MCP-1, and IL-6 in THP-1 macrophages
    F L Chen
    Department of Endocrinology, Huashan Hospital, Institute of Endocrinology and Diabetology at Fudan University, Fudan University, Shanghai, China
    Mol Cell Biochem 337:193-9. 2010
    ..Recent studies show that adipophilin might be involved in inflammatory processes in macrophages...
  2. pmc Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets
    Christopher Hooper
    Department of Molecular Pharmacology and Therapeutics, Loyola Chicago University, Maywood, IL, USA
    BMC Biol 8:72. 2010
    ..However, the biological importance of the spartin-AIP4 interaction remains unknown...
  3. pmc Adipocyte differentiation-related protein is secreted into milk as a constituent of milk lipid globule membrane
    H W Heid
    Division of Cell Biology, German Cancer Research Center, Heidelberg, Federal Republic of Germany
    Biochem J 320:1025-30. 1996
    ..globules from humans, cows and rats contained a protein identified as adipocyte differentiation-related protein (ADRP) associated with the globule surface membrane material...
  4. ncbi Adipophilin is a specific marker of lipid accumulation in diverse cell types and diseases
    H W Heid
    Division of Cell Biology, German Cancer Research Center, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Cell Tissue Res 294:309-21. 1998
    We report the human DNA and protein sequence of adipophilin and its association with the surface of lipid droplets...
  5. ncbi Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7
    Yasuyuki Fujimoto
    Department of Molecular Pathology, Faculty of Pharmaceutical Sciences, Teikyo University, 1091 1 Suarashi, Sagamiko, Tsukui, Kanagawa 199 0195, Japan
    Biochim Biophys Acta 1644:47-59. 2004
    ..Adipose differentiation-related protein (ADRP) was the most abundant protein in the fraction...
  6. ncbi Adipophilin increases triglyceride storage in human macrophages by stimulation of biosynthesis and inhibition of beta-oxidation
    Guilhem Larigauderie
    INSERM, U545, Lille, F 59019 France
    FEBS J 273:3498-510. 2006
    ..In this study, we investigated the role of adipophilin on triglyceride accumulation and lipid-droplet formation in THP-1-derived macrophages (THP-1 macrophages)...
  7. doi Adipophilin distribution and colocalization with lipid droplets in skeletal muscle
    Christopher S Shaw
    Exercise Metabolism Research Group, School of Sport and Exercise Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
    Histochem Cell Biol 131:575-81. 2009
    ..The lipid droplet-associated protein adipophilin (the human orthologue of adipose differentiation-related protein) is ubiquitously expressed and is one of the ..
  8. doi Adipocyte differentiation-related protein and OXPAT in rat and human skeletal muscle: involvement in lipid accumulation and type 2 diabetes mellitus
    Ronnie Minnaard
    NUTRIM School for Nutrition, Toxicology, and Metabolism, Department of Human Movement Sciences, Maastricht University Medical Center, NL 6200 MD Maastricht, The Netherlands
    J Clin Endocrinol Metab 94:4077-85. 2009
    ..Lipid droplet proteins of the PAT [perilipin, adipocyte differentiation-related protein (ADRP), and TIP47] family have been shown to regulate lipid accumulation and intracellular metabolism in other tissues.
  9. pmc Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteins
    Alan R Kimmel
    Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
    J Lipid Res 51:468-71. 2010
    ..Each gene member will incorporate the root term PERILIPIN (PLIN), the founding gene of the PAT family, with the different genes/proteins numbered sequentially...
  10. doi Adipophilin expression in sebaceous tumors and other cutaneous lesions with clear cell histology: an immunohistochemical study of 117 cases
    Daniel A Ostler
    Departments of Pathology and Dermatology, Baylor College of Medicine, The University of Texas, M D Anderson Cancer Center, Houston, TX, USA
    Mod Pathol 23:567-73. 2010
    b>Adipophilin is a monoclonal antibody against a protein on the surface of intracellular lipid droplets, and it was recently shown to be expressed in sebocytes and sebaceous lesions...
  11. doi Preferential utilization of perilipin 2-associated intramuscular triglycerides during 1 h of moderate-intensity endurance-type exercise
    S O Shepherd
    School of Sport and Exercise Sciences, University of Birmingham, Birmingham, UK
    Exp Physiol 97:970-80. 2012
    The lipid droplet (LD)-associated protein perilipin 2 (PLIN2) appears to colocalize with LDs in human skeletal muscle fibres, although the function of PLIN2 in the regulation of intramuscular triglyceride (IMTG) metabolism is currently ..
  12. pmc Sprint interval and traditional endurance training increase net intramuscular triglyceride breakdown and expression of perilipin 2 and 5
    S O Shepherd
    School of Sport and Exercise Sciences, University of Birmingham, Birmingham B15 2TT, UK
    J Physiol 591:657-75. 2013
    ..that ET-induced increases in net IMTG breakdown and insulin sensitivity are related to increased expression of perilipin 2 (PLIN2) and perilipin 5 (PLIN5)...
  13. ncbi Adipophilin enhances lipid accumulation and prevents lipid efflux from THP-1 macrophages: potential role in atherogenesis
    Guilhem Larigauderie
    Department of Atherosclerosis, SERLIA INSERM UR545, Institut Pasteur de Lille, Lille, France
    Arterioscler Thromb Vasc Biol 24:504-10. 2004
    ..Excess lipid deposition in macrophages has been reported to modulate expression of several genes including adipophilin. In this study, we investigated the function of adipophilin in lipid accumulation and cholesterol efflux in THP-..
  14. ncbi Adipophilin expression is increased in symptomatic carotid atherosclerosis: correlation with red blood cells and cholesterol crystals
    Krista Nuotio
    Neuroscience Program, Biomedicum Helsinki, Haartmaninkatu, Helsinki, Finland
    Stroke 38:1791-8. 2007
    b>Adipophilin is an adipose differentiation-related protein expressed in lipid-containing cells. Using DNA microarray analysis, we previously found the adipophilin gene (ADFP) to be overexpressed in symptomatic carotid plaques (CP)...
  15. ncbi Re-evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver disease
    Motoyuki Kohjima
    Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, 812 8582 Fukuoka, Japan
    Int J Mol Med 20:351-8. 2007
    ..FAS), sterol regulatory element-binding protein 1c (SREBP-1c), and adipose differentiation-related protein (ADRP) for evaluation of de novo synthesis and uptake of fatty acids; carnitine palmitoyltransferase 1a; (CPT1a), long-..
  16. pmc Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas HSC, Houston, TX 77030, USA
    Hum Mol Genet 11:559-68. 2002
    Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31...
  17. ncbi A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa
    Xiao Li Zhang
    Clinical Laboratory Center, Affiliated South West Hospital, Third Military Medical University, Chongqing 400038
    Chin Med Sci J 20:30-4. 2005
    ..the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing.
  18. ncbi [A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype]
    Shihong Xiong
    Tianjin Eye Hospital and Tianjin Eye Institute, Tianjin 300040, China
    Zhonghua Yan Ke Za Zhi 38:224-7. 2002
    To detect rhodopsin (RHO) mutation in Chinese families with autosomal dominant retinitis pigmentosa (ADRP) and study on the association of RHO gene mutations with clinical phenotype.
  19. ncbi Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene
    Patrik Schatz
    Department of Ophthalmology, Lund University Hospital, Lund, Sweden
    Ophthalmic Genet 26:119-24. 2005
    ..1 gene (IMPDH1) have recently been discovered to cause a form of autosomal dominant retinitis pigmentosa (adRP)...
  20. ncbi A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family
    Wei Chang
    Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan Hubei, China
    Mol Vis 13:1548-54. 2007
    ..To identify the genetic basis of disease in a Chinese family with retinitis pigmentosa (RP)...
  21. pmc Activation of hormone-sensitive lipase requires two steps, protein phosphorylation and binding to the PAT-1 domain of lipid droplet coat proteins
    Hong Wang
    Geriatric Research, Education, and Clinical Center, Baltimore Veterans Affairs Health Care Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    J Biol Chem 284:32116-25. 2009
    ..we investigate the mechanisms by which PAT family members, perilipin A, adipose differentiation-related protein (ADFP), and LSDP5, control lipolysis catalyzed by hormone-sensitive lipase (HSL), a major lipase in adipocytes and ..
  22. pmc Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs
    Chen Zhao
    Tianjin Eye Hospital, Tianjin Medical University, 4 Gansu Road, Tianjin 300040, PR China
    Am J Hum Genet 85:617-27. 2009
    ..ribonucleoprotein (snRNP) complex of the spliceosome are implicated in autosomal-dominant retinitis pigmentosa (adRP), a group of progressive retinal degenerative disorders leading to visual impairment, loss of visual field, and ..
  23. ncbi [Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa]
    Xing hua Xi
    Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha 410011, China
    Zhonghua Yan Ke Za Zhi 41:1020-6. 2005
    To evaluate the disease-causing gene and phenotypic characters of a large family with autosomal dominant retinitis pigmentosa (adRP).
  24. doi Effect of PUFA on embryo cryoresistance, gene expression and AMPKalpha phosphorylation in IVF-derived bovine embryos
    Abdulrahman Al Darwich
    INRA, UMR85 Physiologie de la Reproduction et des Comportements, F 37380 Nouzilly, France
    Prostaglandins Other Lipid Mediat 93:30-6. 2010
    ..05). Acetyl-CoA-carboxylase (ACC), fatty acid synthase (FAS), adipose differentiation-related protein (ADRP), acyl-CoA synthetase long-chain family member 1 (ACSL1), diacylglycerol O-acyltransferase 1 (DGAT1), carnitin ..
  25. pmc Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families
    C F Inglehearn
    Department of Human Genetics, Newcastle University, Newcastle upon Tyne, England
    Am J Hum Genet 50:590-7. 1992
    Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3...
  26. pmc Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations
    Tomas S Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 49:1580-90. 2008
    To determine the underlying retinal micropathology in subclasses of autosomal dominant retinitis pigmentosa (ADRP) caused by rhodopsin (RHO) mutations.
  27. pmc Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
    S J Bowne
    Human Genetics Center, School of Public Health, and Department of Ophthalmology and Visual Science, The University of Texas-Houston Health Science Center, PO Box 20334, Houston, TX 77225-0334, USA
    Hum Mol Genet 8:2121-8. 1999
    ..Recently we identified the gene responsible for the RP1 form of autosomal dominant retinitis pigmentosa (adRP) at 8q11-12 and found two different nonsense mutations in three families previously mapped to 8q...
  28. ncbi Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
    Motoya Sato
    Department of Ophthalmology, Hirosaki University School of Medicine, Japan
    Graefes Arch Clin Exp Ophthalmol 243:235-42. 2005
    ....
  29. ncbi Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant Retinitis pigmentosa: the Rho(-/-) mouse
    M Campbell
    Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin 4, Ireland
    Exp Eye Res 83:484-92. 2006
    ..Using a mouse model of autosomal dominant Retinitis pigmentosa (adRP) with retinopathy induced by targeted disruption of the rhodopsin gene Rho(-/-), we have analysed the levels of ..
  30. ncbi Genome-wide identification of pseudogenes capable of disease-causing gene conversion
    Jared M Bischof
    Coordinated Laboratory for Computational Genomics, The University of Iowa, Iowa City, Iowa 52240, USA
    Hum Mutat 27:545-52. 2006
    ..Asp170Gly substitution that is associated with the RP9 form of autosomal dominant retinitis pigmentosa (adRP). The c...
  31. pmc Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India
    Mamatha Gandra
    Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya Chennai, India
    Mol Vis 14:1105-13. 2008
    ..and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and autosomal dominant forms of retinitis pigmentosa (adRP). Information on such data is not available in India and hence this study was undertaken.
  32. ncbi Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
    S G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, USA
    Invest Ophthalmol Vis Sci 41:1898-908. 2000
    To determine the disease expression in heterozygotes for mutations in the RP1 gene, a newly identified cause of autosomal dominant retinitis pigmentosa (adRP).
  33. pmc Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:34-42. 2006
    ....
  34. ncbi Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F
    Jan Grøndahl
    Department of Medical Genetics, University Hospital, Rikshospitalet, Oslo, Norway
    Acta Ophthalmol Scand 85:287-97. 2007
    To examine the clinical picture and molecular genetics of 12 Norwegian families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve a genotype-phenotype correlation.
  35. ncbi Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa
    Bernardo V Alvarez
    Membrane Protein Research Group, Department of Physiology, University of Alberta, Edmonton Alberta, Canada
    Invest Ophthalmol Vis Sci 48:3459-68. 2007
    The autosomal dominant retinitis pigmentosa (adRP) gene on chromosome 17, region q22 (RP17), was recently identified as a glycosylphosphatidylinositol membrane-anchored zinc metalloenzyme (protein CAIV), highly expressed in the ..
  36. doi Adipophilin protein expression in muscle--a possible protective role against insulin resistance
    Janneke de Wilde
    Nutrigenomics Consortium, Top Institute Food and Nutrition, Wageningen, The Netherlands
    FEBS J 277:761-73. 2010
    b>Adipophilin is a 50 kDa protein that belongs to the PAT family (perilipin, adipophilin, TIP47, S3-12 and OXPAT), which comprises proteins involved in the coating of lipid droplets...
  37. ncbi [Therapeutic effects of acupoint drug-finger pressing on gastroesophageal reflux]
    Sheng Xie
    Department of Gastroenterology, Liuzhou Hospital of Traditional Chinese Medicine, Guangxi
    Zhongguo Zhong Xi Yi Jie He Za Zhi 27:355-8. 2007
    To observe the clinical effects and possible mechanism of acupoint drug-finger pressing (ADFP) on gastroesophageal reflux (GER).
  38. doi 1 rhodopsin mutations in congenital night blindness
    Suzanne D McAlear
    University of Alabama at Birmingham, Birmingham, AL 35295, USA
    Adv Exp Med Biol 664:263-72. 2010
    ..rhodopsin gene that are found in patients with the degenerative disease autosomal dominant retinitis pigmentosa (ADRP), there are only four known mutations in the rhodopsin gene found in patients with the dysfunction congenital ..
  39. ncbi Hyperoxia augments pulmonary lipofibroblast-to-myofibroblast transdifferentiation
    V Rehan
    Department of Pediatrics, Harbor UCLA Medical Center Research and Education Institute, UCLA School of Medicine, Torrance, CA, USA
    Cell Biochem Biophys 38:239-50. 2003
    ..semiquantitative competitive RT-PCR (for parathyroid hormone-related protein receptor [PTHrPR]), adipose differentiation related protein (ADRP), and alpha smooth muscle actin (alphaSMA), triglyceride uptake, and leptin assay...
  40. doi Hyperlipidic hypercholesterolemic diet in prepubertal rabbits affects gene expression in the embryo, restricts fetal growth and increases offspring susceptibility to obesity
    O Picone
    INRA, UMR 1198 Biologie du Developpement et Reproduction, F 78350 Jouy en Josas, France
    Theriogenology 75:287-99. 2011
    ..All does had similar growth rates and bodyweight. Transcriptomic analyses evidenced an overexpression of Adipophilin in HH embryos at the stage of embryonic genome activation. This was confirmed by quantitative RT-PCR...
  41. pmc Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q
    S J Bowne
    Human Genetics Center, School of Public Health, and Department of Ophthalmology and Visual Science, The University of Texas Houston Health Science Center, Houston, TX, USA
    Mol Vis 6:6-9. 2000
    ..test whether defects in this gene are present in individuals affected with autosomal dominant retinitis pigmentosa (adRP)...
  42. ncbi Molecular control of ovulation and luteinization in the primate follicle
    Richard L Stouffer
    Division of Reproductive Sciences, Oregon National Primate Research Center, 505 NW 185th Avenue, Beaverton, OR 97006, USA
    Front Biosci 12:297-307. 2007
    ..genes are being identified in macaque granulosa cells, including adipose differentiation-related protein (ADFP)...
  43. ncbi Hammerhead ribozymes designed to cleave all human rod opsin mRNAs which cause autosomal dominant retinitis pigmentosa
    Jack M Sullivan
    Department of Ophthalmology, SUNY Upstate Medical University, Syracuse, NY, USA
    Mol Vis 8:102-13. 2002
    ..Ribozyme suppression of mutant mRNA is expected to rescue autosomal dominant retinitis pigmentosa (adRP) caused by rod opsin mutations.
  44. ncbi A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa
    Kun Xia
    National Laboratory of Medical Genetics of China, The Second Xiangya Hospital, Central South University, Changsha, People s Republic of China
    Mol Vis 10:361-5. 2004
    The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 13 genes and a further locus for which the gene remains to be identified...
  45. ncbi Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration
    María José Gamundi
    Laboratori de Biologia i Genetica Molecular, Hospital de Terrassa, Ctra Torrebonica, Terrassa, Spain
    Mol Vis 11:922-8. 2005
    ..in the retinal fascin gene (FSCN2) has so far been associated with autosomal dominant retinitis pigmentosa (adRP) and macular dystrophy (adMD), in a Japanese population...
  46. ncbi BCL-6: a possible missing link for anti-inflammatory PPAR-delta signalling in pancreatic beta cells
    I Kharroubi
    Laboratory of Experimental Medicine, Universite Libre de Bruxelles, CP 618, 808 Route de Lennik, Brussels, 1070, Belgium
    Diabetologia 49:2350-8. 2006
    ..PPAR-delta controls cellular lipid metabolism and is a major regulator of inflammatory responses. We therefore examined the role of PPAR-delta in cytokine-treated beta cells...
  47. pmc Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
    Lori S Sullivan
    Human Genetics Center, The University of Texas Health Science Center at Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:4579-88. 2006
    To determine whether genomic rearrangements in the PRPF31 (RP11) gene are a frequent cause of autosomal dominant retinitis pigmentosa (adRP) in a cohort of patients with adRP.
  48. doi Oleic acid-induced ADRP expression requires both AP-1 and PPAR response elements, and is reduced by Pycnogenol through mRNA degradation in NMuLi liver cells
    Bin Fan
    Division of Clinical Immunology, Department of Immunobiology and Neuroscience, Medical Institute of Bioregulation, Kyushu University, Beppu 874 0838, Japan
    Am J Physiol Endocrinol Metab 297:E112-23. 2009
    ..stimulate lipid accumulation in parallel with increased expression of adipose differentiation-related protein (ADRP) in liver cells...
  49. doi Fatty acids alter glycerolipid metabolism and induce lipid droplet formation, syncytialisation and cytokine production in human trophoblasts with minimal glucose effect or interaction
    A N Pathmaperuma
    Diabetes and Endocrinology Research Unit, Australian National University Medical School at The Canberra Hospital, Garran, ACT, Australia
    Placenta 31:230-9. 2010
    ..Trophoblast lipid droplet formation including adipophilin mRNA expression, viability, apoptosis, syncytialisation, secretion of hormones and pro-inflammatory cytokines ..
  50. pmc Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis
    V C Sheffield
    Department of Pediatrics, University of Iowa, Iowa City
    Am J Hum Genet 49:699-706. 1991
    ..An important step in the understanding of RP has been the recognition that some cases of autosomal dominant RP (ADRP) are caused by mutations in the rhodopsin gene...
  51. ncbi Ambient hypoxia reverses retinal vascular attenuation in a transgenic mouse model of autosomal dominant retinitis pigmentosa
    J S Penn
    Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    Invest Ophthalmol Vis Sci 41:4007-13. 2000
    Loss of retinal capillaries is an inherent component of late stage autosomal dominant retinitis pigmentosa (ADRP)...
  52. pmc Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene
    Sara J Bowne
    Human Genetics Center, University of Texas Health Science Center at Houston, TX 77225, USA
    Mol Vis 9:129-37. 2003
    ..Since mutations in the RP1 gene cause autosomal dominant retinitis pigmentosa, it is possible that mutations in RP1's most sequence similar relative, RP1L1, may also be a cause of inherited retinal degeneration...
  53. ncbi Knockdown of wild-type mouse rhodopsin using an AAV vectored ribozyme as part of an RNA replacement approach
    M S Gorbatyuk
    Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA
    Mol Vis 11:648-56. 2005
    To develop a hammerhead ribozymes (Rz) that might be exploited in a "digest and replace" gene therapy strategy for autosomal dominant retinitis pigmentosa (ADRP) caused by mutations in the gene for rhodopsin (RHO).
  54. ncbi Activation of PPARbeta/delta induces endothelial cell proliferation and angiogenesis
    Laura Piqueras
    Cardiac, Vascular and Inflammation Research, William Harvey Research Institute, Barts and The London, Queen Mary University London, Charterhouse Sq, London EC1M 6BQ, UK
    Arterioscler Thromb Vasc Biol 27:63-9. 2007
    ..Interestingly, the selective PPARbeta/delta ligand GW501516 is in phase II clinical trials for dyslipidemia. Here, using GW501516, we have assessed the involvement of PPARbeta/delta in endothelial cell proliferation and angiogenesis...
  55. pmc Cloning, chromosome mapping and expression pattern of porcine PLIN and M6PRBP1 genes
    Xia Tao
    Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Life Science and Technology, Huazhong Agricultural University, Wuhan 430070, PR China
    Genet Sel Evol 40:215-26. 2008
    The PAT proteins, named after the three PLIN/ADRP/TIP47 (PAT) proteins, PLIN for perilipin, ADRP for adipose differentiation-related protein and TIP47 for tail-interacting protein of 47 kDa, now officially named M6PRBP1 for mannose-6-..
  56. pmc A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
    C F Inglehearn
    Department of Human Genetics, University of Newcastle upon Tyne, England
    Am J Hum Genet 48:26-30. 1991
    Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family...
  57. ncbi Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene
    Y Goto
    Hines Veterans Administration Hospital
    Invest Ophthalmol Vis Sci 36:62-71. 1995
    ..Experimental conditions were chosen to provide a basis of comparison to the results reported for patients with autosomal dominant retinitis pigmentosa (ADRP) in whom the proline at position 23 has been replaced by a histidine (P23H).
  58. ncbi Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
    M Al-Maghtheh
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Hum Mol Genet 3:351-4. 1994
    We report the mapping of a sixth locus for autosomal dominant retinitis pigmentosa (adRP) to 19q13.4...
  59. pmc Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene
    M I Naash
    Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030
    Proc Natl Acad Sci U S A 90:5499-503. 1993
    Autosomal dominant retinitis pigmentosa (ADRP), slowly progressing over decades, leads to severe visual impairment and in some cases to complete blindness...
  60. ncbi Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa
    E Milla
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
    Ophthalmic Genet 19:131-9. 1998
    ..has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP)...
  61. ncbi CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene
    M Danciger
    Jules Stein Eye Institute, Los Angeles, California, USA
    Invest Ophthalmol Vis Sci 42:2458-65. 2001
    ....
  62. ncbi PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor
    Hiroshi Maita
    Department of Molecular Biology, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo 060 0812, Japan
    Exp Cell Res 300:283-96. 2004
    ..has recently been implicated as the defective gene in RP9, one type of autosomal dominant retinitis pigmentosa (adRP)...
  63. ncbi Regulation of renal lipid metabolism, lipid accumulation, and glomerulosclerosis in FVBdb/db mice with type 2 diabetes
    Zhuowei Wang
    Division of Renal Diseases and Hypertension, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Diabetes 54:2328-35. 2005
    ..We also detected a significant increase in the renal expression of adipocyte differentiation-related protein (adipophilin), a marker of cytoplasmic lipid droplets...
  64. ncbi Post-translational regulation of adipose differentiation-related protein by the ubiquitin/proteasome pathway
    Guoheng Xu
    Department of Physiology and Pathophysiology, Health Science Center of Peking University and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Beijing 100083, China
    J Biol Chem 280:42841-7. 2005
    Adipose differentiation-related protein (ADRP) is localized to lipid droplets in most mammalian cells...
  65. ncbi A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
    Myrto Papaioannou
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11 43 Bath Street, London, EC1V 9EL, UK
    Hum Genet 118:501-3. 2005
    ..and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP...
  66. doi Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa
    Xunlun Sheng
    Department of Ophthalmology, The First Teaching Hospital, Ningxia Medical College, Ningxia, China
    Can J Ophthalmol 43:208-12. 2008
    The objective of this study was to determine the frequency and characteristics of mutations in the RP1 gene and to characterize mutations with the clinical features in the Chinese family with autosomal dominant retinitis pigmentosa (ADRP).
  67. doi Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa
    María José Gamundi
    Servicio de Laboratorio, Departamento de Genetica y Biologia Molecular, Hospital de Terrassa, Terrassa, Barcelona, Spain
    Hum Mutat 29:869-78. 2008
    ..Autosomal dominant retinitis pigmentosa (adRP) is caused by mutations in at least 12 genes, with mutations in rhodopsin being the most prevalent...
  68. pmc Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
    Sara J Bowne
    The University of Texas Health Science Center, Human Genetics Center, School of Public Health, Houston, TX 77030, USA
    Mol Vis 14:922-7. 2008
    ..mutations, including large insertions or deletions, in the recently identified RP31 gene topoisomerase I-binding arginine-serine rich (RS) protein (TOPORS), cause an appreciable fraction of autosomal dominant retinitis pigmentosa (adRP).
  69. doi Long-term administration of rapamycin reduces adiposity, but impairs glucose tolerance in high-fat diet-fed KK/HlJ mice
    Geng Ruei Chang
    Department of Veterinary Medicine, National Chung Hsing University, Taichung, Taiwan
    Basic Clin Pharmacol Toxicol 105:188-98. 2009
    ..Moreover, Western blot analysis revealed that rapamycin treatment resulted in decreasing adipophilin expression, as a marker of lipid accumulation, and reducing phosphorylation of mTOR downstream targets S6K1 ..
  70. ncbi Docosahexaenoic acid induces adipose differentiation-related protein through activation of retinoid x receptor in human choriocarcinoma BeWo cells
    Kazushige Suzuki
    Department of Biological Chemistry, Showa University School of Pharmacy
    Biol Pharm Bull 32:1177-82. 2009
    Adipose differentiation-related protein (ADRP) is associated with intracellular lipid droplets that accumulate neutral lipids...
  71. doi Lipid bodies in oxidized LDL-induced foam cells are leukotriene-synthesizing organelles: a MCP-1/CCL2 regulated phenomenon
    Adriana R Silva
    Laboratório de Inflamação, Instituto Oswaldo Cruz, Fundacao Oswaldo Cruz, Rio de Janeiro, RJ, Brazil
    Biochim Biophys Acta 1791:1066-75. 2009
    ..Both in vivo and in vitro, oxLDL (but not native LDL) induced rapid assembly of cytoplasmic lipid bodies-bearing ADRP within mice macrophages...
  72. pmc Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradation
    Min Ji Kang
    Department of Cell Biology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA
    Proc Natl Acad Sci U S A 106:17043-8. 2009
    ..that disrupt the encoded protein's folding properties are a major cause of autosomal dominant retinitis pigmentosa (ADRP)...
  73. doi Long-chain polyunsaturated fatty acids stimulate cellular fatty acid uptake in human placental choriocarcinoma (BeWo) cells
    G M Johnsen
    Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway
    Placenta 30:1037-44. 2009
    ..LCPUFAs and OA increased the gene expression of ADRP whilst decreased the expression of ASCL3, ACSL4, ACSL6, LPIN1, and FABP3 in these cells...
  74. doi Lipid droplet formation in leprosy: Toll-like receptor-regulated organelles involved in eicosanoid formation and Mycobacterium leprae pathogenesis
    Katherine A Mattos
    Laboratórios de Microbiologia Celular, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
    J Leukoc Biol 87:371-84. 2010
    ..We herein show that macrophages present in LL dermal lesions are highly positive for ADRP, suggesting that their foamy aspect is at least in part derived from LD (also known as lipid bodies) accumulation ..
  75. ncbi PAT protein mRNA expression in primary rat hepatocytes: Effects of exposure to fatty acids
    Elena Grasselli
    Department of Biology, University of Genova, Genova, Italy
    Int J Mol Med 25:505-12. 2010
    ..The adipocyte differentiation-related protein (ADRP) and tail-interacting protein (TIP47) are expressed almost ubiquitously, whereas the oxidative tissue-enriched PAT ..
  76. pmc Urinary biomarkers for the early diagnosis of kidney cancer
    JEREMIAH J MORRISSEY
    Department of Anesthesiology, Division of Clinical and Translational Research, Campus Box 8054, Washington University School of Medicine, 660 S Euclid Ave, St Louis, MO 63110 1093, USA
    Mayo Clin Proc 85:413-21. 2010
    To test the hypothesis that increased tumor expression of proteins such as aquaporin-1 (AQP1) and adipophilin (ADFP) in patients with renal cancer would result in increased urine AQP1 and ADFP excretion.
  77. doi SUMO modification selectively regulates transcriptional activity of peroxisome-proliferator-activated receptor γ in C2C12 myotubes
    Sung Soo Chung
    Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon Dong, Chongno Gu, Seoul 110 744, Korea
    Biochem J 433:155-61. 2011
    ..In contrast, overexpression of SENP2 did not affect the expression of another PPARγ target gene ADRP (adipose differentiation-related protein)...
  78. doi Primary sebaceous carcinoma of the tongue
    Hisashi Oshiro
    Department of Pathology, Yokohama City University Hospital, 3 9 Fukuura, Kanazawa Ku, Yokohama, Kanagawa 236 0004, Japan
    Med Mol Morphol 43:246-52. 2010
    ..The neoplastic cells stained positive for adipophilin; epithelial membrane antigen; epithelial antigen; and cytokeratins 7, 8, and 15, but negative for cytokeratins ..
  79. doi The molecular mechanism of acylation stimulating protein regulation of adipophilin and perilipin expression: involvement of phosphoinositide 3-kinase and phospholipase C
    Jing Wu
    Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
    J Cell Biochem 112:1622-9. 2011
    ..b>Adipophilin and perilipin, two members of the lipid droplet protein family, participate not only in fat storage within ..
  80. doi Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa
    Imma Hernan
    Molecular Genetics Laboratory, Hospital de Terrassa, Terrassa, Spain
    Invest Ophthalmol Vis Sci 52:3723-9. 2011
    ..splicing mutations in the rhodopsin gene (RHO) that lead to autosomal dominant or recessive retinitis pigmentosa (adRP/arRP) and the role of nonsense-mediated mRNA decay (NMD) in its pathogenic mechanism...
  81. doi Dynamics and regulation of lipid droplet formation in lipopolysaccharide (LPS)-stimulated microglia
    Armen Khatchadourian
    Department of Pharmacology and Therapeutics, McGill University, Montreal, QC, Canada H3G 1Y6
    Biochim Biophys Acta 1821:607-17. 2012
    ..JNK) and p38 MAPK stress signaling pathways and increased the expression of LD-associated protein perilipin-2 (ADRP) in a time-dependent manner...
  82. pmc Peroxisome proliferator-activated receptor γ-dependent regulation of lipolytic nodes and metabolic flexibility
    Sergio Rodriguez-Cuenca
    Department of Clinical Biochemistry, Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom
    Mol Cell Biol 32:1555-65. 2012
    ..PKAcatα) and d-akap1, the lipase genes Pnplaz (ATGL) and Lipe (HSL), and lipid droplet protein genes fsp27 and adrp in vivo and in vitro...
  83. doi Identification of major milk fat globule membrane proteins from pony mare milk highlights the molecular diversity of lactadherin across species
    C Cebo
    INRA, UMR1313 Unité Génétique Animale et Biologie Intégrative, F 78350 Jouy en Josas, France
    J Dairy Sci 95:1085-98. 2012
    ..Major MFGM proteins (namely, xanthine oxidase, butyrophilin, lactadherin, and adipophilin) already described in cow or goat milk were identified in mare milk using mass spectrometry...
  84. ncbi Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa
    F Xiang
    Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan 430071 China
    Genetika 48:125-9. 2012
    We wanted to find the gene defect in a Chinese pedigree with autosomal dominant form of retinitis pigmentosa (ADRP). A small Chinese family with retinitis pigmentosa was collected...
  85. pmc Thymus fat as an attractive source of angiogenic factors in elderly subjects with myocardial ischemia
    Leticia Coín Aragüez
    CIBER Fisiopatología Obesidad y Nutrición CB06 03, Instituto de Salud Carlos III, Malaga, Spain
    Age (Dordr) 35:1263-75. 2013
    ..VEGF-A, B, C, and D and adipogenic parameters, peroxisome proliferator-activated receptors (PPARγ2), FABP4, and ADRP showed elevated expression levels in TAT from elderly patients compared to the middle-aged group, while in SAT, ..
  86. ncbi Protective effects of total flavonoids from Litsea coreana on alcoholic fatty liver in rats associated with down-regulation adipose differentiation-related protein expression
    Cheng mu Hu
    School of Pharmacy, Anhui Medical University, Key Laboratory for Bioactivity of Natural Medicine of Anhui Province, Hefei, China
    Am J Chin Med 40:599-610. 2012
    ..were measured, histopathologic changes were determined, and expression of adipose differentiation-related protein (ADRP) in the liver were evaluated by Western blotting and immunohistochemistry, respectively...
  87. doi How selected tissues of lactating holstein cows respond to dietary polyunsaturated fatty acid supplementation
    Beate Hiller
    Research Units Muscle Biology and Growth and Genetics and Biometry, Leibniz Institute for Farm Animal Biology, Wilhelm Stahl Allee 2, 18196 Dummerstorf, Germany
    Lipids 48:357-67. 2013
    ..79, SUNA, LINA) expression] and omental adipose [up-regulated ACACA (FC = 1.58, SUNA; FC = 1.22, LINA), ADFP (FC = 1.33, SUNA; FC = 1.32, LINA), CEBPA (FC = 1.75, SUNA; FC = 1.40, LINA), FASN (FC = 1...
  88. ncbi [The progress of adipose differentiation-related protein]
    Mei Fang Liu
    Department of Basic Medicine, Medical College of Jining, Rizhao 276826, China
    Sheng Li Ke Xue Jin Zhan 43:241-6. 2012
    ..Lipid droplet-associated proteins play an important role in lipid droplet metabolism. ADRP is the major lipid-droplet associated protein presents in almost all cells that accumulate lipids...
  89. doi Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion
    Virginia M Utz
    Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA, and
    Ophthalmic Genet 34:183-8. 2013
    Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31...
  90. doi Detection of novel genetic variation in autosomal dominant retinitis pigmentosa
    E Borras
    Molecular Genetics Unit
    Clin Genet 84:441-52. 2013
    ..sequence variants in 448 candidate genes from five index cases of autosomal dominant retinitis pigmentosa (adRP) by sequence DNA capture and next-generation DNA sequencing (NGS)...
  91. doi PPARα-mediated responses in human adult liver stem cells: In vivo/in vitro and cross-species comparisons
    S Kim
    Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI 48824, United States Center for Integrative Toxicology, Michigan State University, East Lansing, MI 48824, United States Electronic address
    J Steroid Biochem Mol Biol 138:236-47. 2013
    ..g., Pdk4, Adfp and Angptl4) while some genes (i.e...
  92. doi Androgen receptor identification in the diagnosis of eyelid sebaceous carcinomas
    Frederick A Jakobiec
    David G Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts Electronic address
    Am J Ophthalmol 157:687-96.e1-2. 2014
    To assess the role of androgen receptor detection in diagnosing eyelid sebaceous carcinomas and to compare it with that of adipophilin.
  93. doi Characterisation of the genetic effects of the ADFP gene and its association with production traits in dairy goats
    Zhuan Jian Li
    College of Animal Science and Technology, Northwest A and F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China College of Animal Science and Veterinary Medicine, Henan Agricultural University, Zhengzhou, Henan 45002, China
    Gene 538:244-50. 2014
    Adipose differentiation-related protein (ADFP) is important for regulation of lipid metabolism and insulin secretion in beta-cells...
  94. doi Retinitis pigmentosa‑associated rhodopsin mutant T17M induces endoplasmic reticulum (ER) stress and sensitizes cells to ER stress-induced cell death
    Haibo Jiang
    Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan 410078, P R China
    Mol Med Rep 9:1737-42. 2014
    ..mutations, including the T17M mutation, are associated with the autosomal dominant form of retinitis pigmentosa (ADRP) and have been linked to abnormal protein folding...
  95. doi Prenatal retinoic acid increases lipofibroblast expression in hypoplastic rat lungs with experimental congenital diaphragmatic hernia
    Florian Friedmacher
    National Children s Research Centre, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz, Austria
    J Pediatr Surg 49:876-81; discussion 881. 2014
    ..Lipid-containing interstitial lipofibroblasts (LIFs), characterized by adipocyte differentiation-related protein (ADRP), play a critical role in alveolar development by coordinating lipid homeostasis...
  96. doi Esophageal adenocarcinoma with white opaque substance observed by magnifying endoscopy with narrow band imaging
    Shunsuke Yoshii
    Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
    Dig Endosc 27:392-6. 2015
    ..Colonic and duodenal neoplasms with WOS have also been reported. Immunohistochemical examination with adipophilin reveals WOS in gastric neoplasms as lipid droplets, and WOS is specific for neoplasm with intestinal or ..
  97. doi A method for lipid droplet isolation from human placenta for further analyses in clinical trials
    Inmaculada Hernández-Albaladejo
    Department of Physiology, Faculty of Biology, University of Murcia, Murcia, Spain
    Acta Obstet Gynecol Scand 93:1198-202. 2014
    ..The placental lipids droplets layer was characterized by the presence of adipophilin while no N+ /K+-ATPase as plasma membrane contamination was detected...
  98. pmc A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa
    Lori S Sullivan
    Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States
    Invest Ophthalmol Vis Sci 55:7147-58. 2014
    To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP).
  99. doi Effect of short-chain fatty acids on triacylglycerol accumulation, lipid droplet formation and lipogenic gene expression in goat mammary epithelial cells
    Yuting Sun
    Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A and F University, Yangling, Shaanxi, P R China
    Anim Sci J 87:242-9. 2016
    ..The expression of FABP3, SCD1, PPARG, SREBP1, DGAT1, AGPAT6 and ADRP were upregulated by propionate and butyrate treatment...
  100. pmc Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population
    Razek Georges Coussa
    The McGill Ocular Genetics Laboratory Paediatric Ophthalmology Division, Montreal Children s Hospital, McGill University Health Centre, Montreal, Quebec, Canada
    Invest Ophthalmol Vis Sci 56:8297-305. 2015
    ..The purpose of our study was to establish the genetic architecture of autosomal dominant RP (adRP) and to characterize the phenotypes associated with new adRP mutations in Quebec.
  101. doi Short communication: Altered expression of specificity protein 1 impairs milk fat synthesis in goat mammary epithelial cells
    J J Zhu
    Key Laboratory of Sichuan Province for Qinghai Tibetan Plateau Animal Genetic Reservation and Exploitation, Southwest University for Nationalities, Chengdu, Sichuan, 610041, P R China Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A and F University, Yangling, Shaanxi, 712100, P R China
    J Dairy Sci 99:4893-8. 2016
    ..the markedly lower expression of genes related to lipid droplet formation and secretion (TIP47 by 19 and 32%, and ADFP by 25 and 25%, respectively), cellular lipid droplet content was also decreased sharply, by 9 and 8...

Research Grants48

  1. DUSANKA DANIELLE DERETIC; Fiscal Year: 2016
    ..in rhodopsin that affect the C- terminal VxPx motif cause severe forms of autosomal dominant retinitis pigmentosa (ADRP). We identified and defined rhodopsin C-terminal VxPx motif as the conserved ciliary targeting signal...
  2. Marina Gorbatyuk; Fiscal Year: 2014
    Unfolded Protein Response as a Therapeutic Target for ADRP Animal Models This project is focused on the elucidation of the role of the Unfolded Protein Response (UPR) in autosomal dominant retinitis pigmentosa (ADRP) pathogenesis and ..
  3. MOLECULAR MECHANISMS OF PHOTORECEPTOR FUNCTION
    Barry E Knox; Fiscal Year: 2010
    ..Rho(P23H) has folding abnormality that causes cell death. To understand and treat adRP, a better understanding of how photoreceptors react to the mutant protein at the molecular level is needed...
  4. John M Sullivan; Fiscal Year: 2016
    ..We have achieved a single highly potent hhRz candidate therapeutic for adRP due to all known human RHO mutations...
  5. HYUNG D RYOO; Fiscal Year: 2016
    ..One of the most common causes of Autosomal Dominant Retinitis Pigmentosa (ADRP) are mutations in the rhodopsin gene that disrupt its encoded protein's folding property...
  6. David S Kliger; Fiscal Year: 2016
    ..through a variety of point defects in the rhodopsin gene that result in autosomal dominant retinitis pigmentosa (ADRP). ADRP is a form of retinal degeneration, affecting over 100,000 Americans, which can lead to blindness...
  7. William A Beltran; Fiscal Year: 2016
    ..provides optimal rescue of rods, (Aim #3) develop outcome measures for clinical trials of gene therapy in RHO-ADRP patients, and (Aim #4) evaluate the optimal strategy and vector construct (based on results of Aims #1 and 2) in ..
  8. David L Farrens; Fiscal Year: 2014
    ..what makes arrestin "let go" after binding rhodopsin is also crucial - stable rhodopsin-arrestin complexes have been suggested to be a contributing factor in apoptosis and autosomal dominant retinitis pigmentosa (ADRP).
  9. Kathleen Boesze-Battaglia; Fiscal Year: 2016
    ..Specifically, they are the most prevalent cause of autosomal dominant retinitis pigmentosa (adRP) in the United States and Northern Europe;over 150 mutations within this gene result in a broad variety of late ..
  10. Samuel E Butcher; Fiscal Year: 2016
    ..in spliceosome components, results in a range of human diseases including autosomal dominant retinitis pigmentosa (adRP), which causes blindness...
  11. RDS mutations: Gene therapy for ADRP, macular degeneration and pattern dystrophy
    Alfred S Lewin; Fiscal Year: 2010
    ..gene which lead to pattern dystrophy, macular degeneration and autosomal dominant retinitis pigmentosa (ADRP)...
  12. Stephen P Daiger; Fiscal Year: 2016
    ..of this continuing project is to identify the genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)...
  13. The mechanism of IMPDH1-mediated retinitis pigmentosa
    Lizbeth Hedstrom; Fiscal Year: 2007
    ..in guanine nucleotide biosynthesis; mutations in IMPDH1 account for 2-3% autosomal dominant retinitis pigmentosa (adRP) cases...
  14. AUTOSOMAL DOMINANT EYE DISEASE: CATALYTIC RNA TREATMENT
    Alfred Lewin; Fiscal Year: 2005
    The goal of this project is to develop a genetic therapy for autosomal dominant retinitis pigmentosa (ADRP). Retinitis pigmentosa is a type of inherited retinal degeneration caused by the death of rod photoreceptor cells...
  15. MECHANISMS OF MILK LIPID SECRETION
    JAMES LEWIS MCMANAMAN; Fiscal Year: 2013
    ..We hypothesize that adipophilin (ADPH), a member of the perilipin (PAT) family of lipid droplet binding proteins, is required for CLD formation ..
  16. EARLY RECEPTOR CURRENT OF RHODOPSIN ACTIVATION
    John Sullivan; Fiscal Year: 2000
    ..in studying how mutations of human rhodopsin, such as those caused by autosomal dominant retinitis pigmentosa (adRP), disrupt phototransduction and lead to photoreceptor degeneration...
  17. ANTONIO PAUL; Fiscal Year: 2014
    ..of the PAT-family, and in macrophages the most abundant PAT-protein is adipose differentiation-related protein (ADFP)...
  18. JEREMIAH J MORRISSEY; Fiscal Year: 2016
    ..In an in press publication, we have shown that aquaporin 1 (AQP1) and adipophilin (ADFP) are significantly increased in urinary exosomes of patients with kidney cancer thus providing the first ..
  19. Yumi Imai; Fiscal Year: 2015
    ..Adipose differentiation-related protein (ADFP), found on the surface of lipid droplets in wide range of cells, is proposed to play a critical role in spatial ..
  20. IRA JAY GOLDBERG; Fiscal Year: 2015
    ..studies showed a correction of lipotoxicity associated with increased expression of the lipid droplet protein ADRP/Plin2, we will characterize heart lipid metabolism in ADRP knockout mice and then cross them with our lipotoxicity ..
  21. PLIN2, VLDL Biogenesis and Lipid Homeostasis
    Benny Hung Junn Chang; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Adipose Differentiation Related Protein (ADFP), VLDL Biogenesis and Triacylglycerol Homeostasis Nonalcoholic fatty liver disease (NAFLD) is often a precursor to chronic liver diseases, and a ..
  22. REGULATION OF PHOSPHOLIPASE A2 IN HUMAN AMNION
    Leslie Myatt; Fiscal Year: 2009
    ..b>Adipophilin and perilipin are found in association with lipid droplets perhaps serving structural and functional roles in ..
  23. PAT PROTEINS: GENE-DIET INTERACTIONS OBESITY RISK AND HEALTH
    Jose Ordovas; Fiscal Year: 2009
    ..In this regard, the evolutionarily related family of PAT proteins (Perilipin (PLIN), Adipophilin, TIP47, S3-12) defined by protein sequence similarity and their association with lipid droplets, may play key ..
  24. Modulating the Folding of P23H Opsin by Chaperones
    Shalesh Kaushal; Fiscal Year: 2006
    ..demonstrated that the clinically common P23H opsin mutant associated with autosomal dominant retinitis pigmentosa (ADRP) is misfolded and retained in the cell...
  25. ADRP function and lipid droplet localization
    LAURA LISTENBERGER; Fiscal Year: 2007
    ..A prime candidate for regulating these processes is adipocyte differentiation-related protein (ADRP)...
  26. Lipid droplet domains foster lipid storage
    Barbara Atshaves; Fiscal Year: 2005
    ..The current proposal focuses on the role of one protein, adipose differentiation-related protein (ADRP), in regulating lipid storage through interactions with specific lipid domains and/or proteins at the surface of ..
  27. LACTATIONAL EFFECTORS OF TRIACYLGLYCEROL MOBILIZATION
    JAMES MCMANAMAN; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  28. Identifying the RP10 gene causing retinitis pigmentosa
    Stephen Daiger; Fiscal Year: 2004
    ..this project is to identify, that is, "clone," the RP10 gene which causes autosomal dominant retinitis pigmentosa (adRP)...
  29. HORMONAL REGULATION OF LUNG DEVELOPMENT; PTHrP BIOLOGY
    John Torday; Fiscal Year: 2009
    ..These studies will provide important insights to the pathophysiology and treatment of chronic lung diseases of the newborn and adult alike. ..
  30. Lipid Droplets: Metabolic Consequences of Stored Neutral Lipids
    Dawn Brasaemle; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  31. A High Throughput Imaging Assay for Hepatic Lipid Droplet Formation
    Patrick McDonough; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  32. HT Image Assay of Lipid Droplet Formation in Human Adipocytes
    Patrick McDonough; Fiscal Year: 2006
    ..the expression levels and intracellular location of lipid-droplet associated proteins such as perilipin, adipophilin, TIP47, and hormone sensitive lipase, which are involved in fat droplet formation and metabolism...
  33. CELL SUBPOPULATIONS IN THE PRIMATE CORPUS LUTEUM
    Richard Stouffer; Fiscal Year: 2001
    ..Overall, the proposed research may have relevance to an understanding of certain ovarian disorders such as ovarian hyperstimulation syndrome and luteal phase defects where microvasculature growth may be disrupted. ..
  34. PATHOGENESIS OF RETINAL DEGENERATIONS
    Samuel Jacobson; Fiscal Year: 2001
    ..The results of this research will lead to the formulation of hypotheses about the underlying molecular events in these diseases and may evolve into recommendations for treatment paradigms in these blinding retinal degenerations. ..
  35. LIPOPROTEIN METABOLISM AND HORMONAL REGULATION
    Lawrence Chan; Fiscal Year: 2003
    ..In summary, this application utilizes state-of-the-art gene delivery technology plus a conditional knockout model to examine important issues in MTP biology, tissue-specific gene targeting, and intestinal gene therapy. ..
  36. APOLIPOPROTEIN B48 AND LIPOPROTEIN METABOLISM
    Lawrence Chan; Fiscal Year: 2004
    ..Thus, the overall project is highly relevant to lipid nutrient absorption and homeostasis. Significantly, it also provides important information on a newly described pathway in posttranscriptional gene regulation. ..
  37. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
    ....
  38. CONFERENCE ON DIABETES MELLITUS
    Morris Birnbaum; Fiscal Year: 2004
    ..3) the relationship between specialized metabolic regulation and such generalized processes as proliferation, differentiation, apoptosis growth, and 3) molecular determinants in the neuronal control of appetite, growth and metabolism ..
  39. FLOTILLINS AND INSULIN-STIMULATED GLUCOSE TRANSPORT
    Perry Bickel; Fiscal Year: 2006
    ..Completion of these aims should yield testable hypotheses about the role of flotillin-1 in human health and disease and in the pathophysiology of type 2 diabetes. ..
  40. MOLECULAR GENETICS OF PHOTOTRANSDUCTION
    Bih Hwa Shieh; Fiscal Year: 2006
    ..Un-regulated signaling may lead to hyperactivity or degeneration of neurons, which has been implicated in mans pathophysiological conditions such as epilepsy and neurodegenerative diseases. ..
  41. Regulation and role of CEACAM6 in the lung alveolus
    Philip L Ballard; Fiscal Year: 2011
    ..The studies of this project will examine expression and function of the protein in normal lung and its role in response to lung injury and infection. ..
  42. Development automated assay-regulators insulin synthesis
    Patrick McDonough; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  43. Induced islet neogenesis therapy in vivo
    Lawrence Chan; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  44. High Throughput Imaging Assay for Beta-Catenin
    Patrick McDonough; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  45. NOVEL THERAPY FOR DIABETES
    Lawrence Chan; Fiscal Year: 2008
    ..Finally, the best regimens identified by the experiments proposed are strong candidates for clinical trials in the future. ..
  46. Automated analysis of skeletal muscle fiber crossectional area and metabolic type
    Patrick McDonough; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  47. Live cell and HCS assays to quantify production of cardiomyocytes from stem cells
    Patrick McDonough; Fiscal Year: 2008
    ..We will develop an instrument that will help researchers produce heart cells from embryonic stem cells. Heart cells produced in this manner can potentially be used to treat heart disease. [unreadable] [unreadable] [unreadable]..
  48. Gene Modifiers of Retinal Degeneration
    HENRY DANCIGER; Fiscal Year: 2009
    ..This would make therapeutic approaches simpler. ..