Genomes and Genes
Gene Symbol: PLIN2
Description: perilipin 2
Alias: ADFP, ADRP, perilipin-2, adipophilin, adipose differentiation-related protein
Publications227 found, 100 shown here
- Adipophilin affects the expression of TNF-alpha, MCP-1, and IL-6 in THP-1 macrophagesF 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...
- Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid dropletsChristopher 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...
- Adipocyte differentiation-related protein is secreted into milk as a constituent of milk lipid globule membraneH 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...
- Adipophilin is a specific marker of lipid accumulation in diverse cell types and diseasesH W Heid
Division of Cell Biology, German Cancer Research Center, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
Cell Tissue Res 294:309-21. 1998We report the human DNA and protein sequence of adipophilin and its association with the surface of lipid droplets...
- Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7Yasuyuki 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...
- Adipophilin increases triglyceride storage in human macrophages by stimulation of biosynthesis and inhibition of beta-oxidationGuilhem 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)...
- Adipophilin distribution and colocalization with lipid droplets in skeletal muscleChristopher 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 ..
- Adipocyte differentiation-related protein and OXPAT in rat and human skeletal muscle: involvement in lipid accumulation and type 2 diabetes mellitusRonnie 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.
- Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteinsAlan 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...
- Adipophilin expression in sebaceous tumors and other cutaneous lesions with clear cell histology: an immunohistochemical study of 117 casesDaniel 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. 2010b>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...
- Preferential utilization of perilipin 2-associated intramuscular triglycerides during 1 h of moderate-intensity endurance-type exerciseS O Shepherd
School of Sport and Exercise Sciences, University of Birmingham, Birmingham, UK
Exp Physiol 97:970-80. 2012The 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 ..
- Sprint interval and traditional endurance training increase net intramuscular triglyceride breakdown and expression of perilipin 2 and 5S 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)...
- Adipophilin enhances lipid accumulation and prevents lipid efflux from THP-1 macrophages: potential role in atherogenesisGuilhem 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-..
- Adipophilin expression is increased in symptomatic carotid atherosclerosis: correlation with red blood cells and cholesterol crystalsKrista Nuotio
Neuroscience Program, Biomedicum Helsinki, Haartmaninkatu, Helsinki, Finland
Stroke 38:1791-8. 2007b>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)...
- Re-evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver diseaseMotoyuki 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-..
- Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSara J Bowne
Human Genetics Center, School of Public Health, The University of Texas HSC, Houston, TX 77030, USA
Hum Mol Genet 11:559-68. 2002Autosomal 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...
- A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosaXiao 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.
- [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. 2002To 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.
- Clinical phenotype in a Swedish family with a mutation in the IMPDH1 genePatrik 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)...
- A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese familyWei 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)...
- Activation of hormone-sensitive lipase requires two steps, protein phosphorylation and binding to the PAT-1 domain of lipid droplet coat proteinsHong 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 ..
- Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAsChen 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 ..
- [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. 2005To evaluate the disease-causing gene and phenotypic characters of a large family with autosomal dominant retinitis pigmentosa (adRP).
- Effect of PUFA on embryo cryoresistance, gene expression and AMPKalpha phosphorylation in IVF-derived bovine embryosAbdulrahman 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 ..
- Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa familiesC F Inglehearn
Department of Human Genetics, Newcastle University, Newcastle upon Tyne, England
Am J Hum Genet 50:590-7. 1992Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3...
- Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutationsTomas S Aleman
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 49:1580-90. 2008To determine the underlying retinal micropathology in subclasses of autosomal dominant retinitis pigmentosa (ADRP) caused by rhodopsin (RHO) mutations.
- Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosaS 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...
- Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophiesMotoya Sato
Department of Ophthalmology, Hirosaki University School of Medicine, Japan
Graefes Arch Clin Exp Ophthalmol 243:235-42. 2005....
- Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant Retinitis pigmentosa: the Rho(-/-) mouseM 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 ..
- Genome-wide identification of pseudogenes capable of disease-causing gene conversionJared 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...
- Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from IndiaMamatha 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.
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosaS G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, USA
Invest Ophthalmol Vis Sci 41:1898-908. 2000To determine the disease expression in heterozygotes for mutations in the RP1 gene, a newly identified cause of autosomal dominant retinitis pigmentosa (adRP).
- Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosisSara 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....
- Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179FJan Grøndahl
Department of Medical Genetics, University Hospital, Rikshospitalet, Oslo, Norway
Acta Ophthalmol Scand 85:287-97. 2007To 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.
- Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosaBernardo V Alvarez
Membrane Protein Research Group, Department of Physiology, University of Alberta, Edmonton Alberta, Canada
Invest Ophthalmol Vis Sci 48:3459-68. 2007The 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 ..
- Adipophilin protein expression in muscle--a possible protective role against insulin resistanceJanneke de Wilde
Nutrigenomics Consortium, Top Institute Food and Nutrition, Wageningen, The Netherlands
FEBS J 277:761-73. 2010b>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...
- [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. 2007To observe the clinical effects and possible mechanism of acupoint drug-finger pressing (ADFP) on gastroesophageal reflux (GER).
- 1 rhodopsin mutations in congenital night blindnessSuzanne 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 ..
- Hyperoxia augments pulmonary lipofibroblast-to-myofibroblast transdifferentiationV 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...
- Hyperlipidic hypercholesterolemic diet in prepubertal rabbits affects gene expression in the embryo, restricts fetal growth and increases offspring susceptibility to obesityO 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...
- Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7qS 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)...
- Molecular control of ovulation and luteinization in the primate follicleRichard 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)...
- Hammerhead ribozymes designed to cleave all human rod opsin mRNAs which cause autosomal dominant retinitis pigmentosaJack 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.
- A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosaKun 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. 2004The 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...
- Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degenerationMaría 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...
- BCL-6: a possible missing link for anti-inflammatory PPAR-delta signalling in pancreatic beta cellsI 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...
- Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaLori S Sullivan
Human Genetics Center, The University of Texas Health Science Center at Houston, TX 77030, USA
Invest Ophthalmol Vis Sci 47:4579-88. 2006To 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.
- Oleic acid-induced ADRP expression requires both AP-1 and PPAR response elements, and is reduced by Pycnogenol through mRNA degradation in NMuLi liver cellsBin 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...
- Fatty acids alter glycerolipid metabolism and induce lipid droplet formation, syncytialisation and cytokine production in human trophoblasts with minimal glucose effect or interactionA 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 ..
- Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresisV 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...
- Ambient hypoxia reverses retinal vascular attenuation in a transgenic mouse model of autosomal dominant retinitis pigmentosaJ S Penn
Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
Invest Ophthalmol Vis Sci 41:4007-13. 2000Loss of retinal capillaries is an inherent component of late stage autosomal dominant retinitis pigmentosa (ADRP)...
- Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) geneSara 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...
- Knockdown of wild-type mouse rhodopsin using an AAV vectored ribozyme as part of an RNA replacement approachM S Gorbatyuk
Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA
Mol Vis 11:648-56. 2005To 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).
- Activation of PPARbeta/delta induces endothelial cell proliferation and angiogenesisLaura 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...
- Cloning, chromosome mapping and expression pattern of porcine PLIN and M6PRBP1 genesXia 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. 2008The 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-..
- A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosaC F Inglehearn
Department of Human Genetics, University of Newcastle upon Tyne, England
Am J Hum Genet 48:26-30. 1991Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family...
- Functional abnormalities in transgenic mice expressing a mutant rhodopsin geneY 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).
- Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19M Al-Maghtheh
Department of Molecular Genetics, Institute of Ophthalmology, London, UK
Hum Mol Genet 3:351-4. 1994We report the mapping of a sixth locus for autosomal dominant retinitis pigmentosa (adRP) to 19q13.4...
- Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin geneM I Naash
Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030
Proc Natl Acad Sci U S A 90:5499-503. 1993Autosomal dominant retinitis pigmentosa (ADRP), slowly progressing over decades, leads to severe visual impairment and in some cases to complete blindness...
- Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosaE 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)...
- CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate geneM Danciger
Jules Stein Eye Institute, Los Angeles, California, USA
Invest Ophthalmol Vis Sci 42:2458-65. 2001....
- PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factorHiroshi 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)...
- Regulation of renal lipid metabolism, lipid accumulation, and glomerulosclerosis in FVBdb/db mice with type 2 diabetesZhuowei 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...
- Post-translational regulation of adipose differentiation-related protein by the ubiquitin/proteasome pathwayGuoheng 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. 2005Adipose differentiation-related protein (ADRP) is localized to lipid droplets in most mammalian cells...
- A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9pMyrto 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...
- Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosaXunlun Sheng
Department of Ophthalmology, The First Teaching Hospital, Ningxia Medical College, Ningxia, China
Can J Ophthalmol 43:208-12. 2008The 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).
- Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosaMaría 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...
- Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosaSara 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).
- Long-term administration of rapamycin reduces adiposity, but impairs glucose tolerance in high-fat diet-fed KK/HlJ miceGeng 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 ..
- Docosahexaenoic acid induces adipose differentiation-related protein through activation of retinoid x receptor in human choriocarcinoma BeWo cellsKazushige Suzuki
Department of Biological Chemistry, Showa University School of Pharmacy
Biol Pharm Bull 32:1177-82. 2009Adipose differentiation-related protein (ADRP) is associated with intracellular lipid droplets that accumulate neutral lipids...
- Lipid bodies in oxidized LDL-induced foam cells are leukotriene-synthesizing organelles: a MCP-1/CCL2 regulated phenomenonAdriana 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...
- Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradationMin 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)...
- Long-chain polyunsaturated fatty acids stimulate cellular fatty acid uptake in human placental choriocarcinoma (BeWo) cellsG 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...
- Lipid droplet formation in leprosy: Toll-like receptor-regulated organelles involved in eicosanoid formation and Mycobacterium leprae pathogenesisKatherine 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 ..
- PAT protein mRNA expression in primary rat hepatocytes: Effects of exposure to fatty acidsElena 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 ..
- Urinary biomarkers for the early diagnosis of kidney cancerJEREMIAH 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. 2010To 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.
- SUMO modification selectively regulates transcriptional activity of peroxisome-proliferator-activated receptor γ in C2C12 myotubesSung 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)...
- Primary sebaceous carcinoma of the tongueHisashi 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 ..
- The molecular mechanism of acylation stimulating protein regulation of adipophilin and perilipin expression: involvement of phosphoinositide 3-kinase and phospholipase CJing 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 ..
- Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosaImma 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...
- Dynamics and regulation of lipid droplet formation in lipopolysaccharide (LPS)-stimulated microgliaArmen 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...
- Peroxisome proliferator-activated receptor γ-dependent regulation of lipolytic nodes and metabolic flexibilitySergio 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...
- Identification of major milk fat globule membrane proteins from pony mare milk highlights the molecular diversity of lactadherin across speciesC 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...
- Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosaF Xiang
Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan 430071 China
Genetika 48:125-9. 2012We 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...
- Thymus fat as an attractive source of angiogenic factors in elderly subjects with myocardial ischemiaLeticia 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, ..
- Protective effects of total flavonoids from Litsea coreana on alcoholic fatty liver in rats associated with down-regulation adipose differentiation-related protein expressionCheng 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...
- How selected tissues of lactating holstein cows respond to dietary polyunsaturated fatty acid supplementationBeate 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...
- [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...
- 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 insertionVirginia M Utz
Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA, and
Ophthalmic Genet 34:183-8. 2013Several 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...
- Detection of novel genetic variation in autosomal dominant retinitis pigmentosaE 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)...
- PPARα-mediated responses in human adult liver stem cells: In vivo/in vitro and cross-species comparisonsS 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...
- Androgen receptor identification in the diagnosis of eyelid sebaceous carcinomasFrederick 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. 2014To assess the role of androgen receptor detection in diagnosing eyelid sebaceous carcinomas and to compare it with that of adipophilin.
- Characterisation of the genetic effects of the ADFP gene and its association with production traits in dairy goatsZhuan 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. 2014Adipose differentiation-related protein (ADFP) is important for regulation of lipid metabolism and insulin secretion in beta-cells...
- Retinitis pigmentosa‑associated rhodopsin mutant T17M induces endoplasmic reticulum (ER) stress and sensitizes cells to ER stress-induced cell deathHaibo 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...
- Prenatal retinoic acid increases lipofibroblast expression in hypoplastic rat lungs with experimental congenital diaphragmatic herniaFlorian 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...
- Esophageal adenocarcinoma with white opaque substance observed by magnifying endoscopy with narrow band imagingShunsuke 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 ..
- A method for lipid droplet isolation from human placenta for further analyses in clinical trialsInmaculada 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...
- A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosaLori S Sullivan
Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States
Invest Ophthalmol Vis Sci 55:7147-58. 2014To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP).
- Effect of short-chain fatty acids on triacylglycerol accumulation, lipid droplet formation and lipogenic gene expression in goat mammary epithelial cellsYuting 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...
- Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder PopulationRazek 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.
- Short communication: Altered expression of specificity protein 1 impairs milk fat synthesis in goat mammary epithelial cellsJ 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...
- 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...
- Marina Gorbatyuk; Fiscal Year: 2014Unfolded 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 ..
- MOLECULAR MECHANISMS OF PHOTORECEPTOR FUNCTIONBarry 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...
- 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...
- 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...
- 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...
- 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 ..
- 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).
- 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 ..
- 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...
- RDS mutations: Gene therapy for ADRP, macular degeneration and pattern dystrophyAlfred S Lewin; Fiscal Year: 2010..gene which lead to pattern dystrophy, macular degeneration and autosomal dominant retinitis pigmentosa (ADRP)...
- Stephen P Daiger; Fiscal Year: 2016..of this continuing project is to identify the genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)...
- The mechanism of IMPDH1-mediated retinitis pigmentosaLizbeth Hedstrom; Fiscal Year: 2007..in guanine nucleotide biosynthesis; mutations in IMPDH1 account for 2-3% autosomal dominant retinitis pigmentosa (adRP) cases...
- AUTOSOMAL DOMINANT EYE DISEASE: CATALYTIC RNA TREATMENTAlfred Lewin; Fiscal Year: 2005The 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...
- MECHANISMS OF MILK LIPID SECRETIONJAMES 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 ..
- EARLY RECEPTOR CURRENT OF RHODOPSIN ACTIVATIONJohn 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...
- ANTONIO PAUL; Fiscal Year: 2014..of the PAT-family, and in macrophages the most abundant PAT-protein is adipose differentiation-related protein (ADFP)...
- 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 ..
- 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 ..
- 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 ..
- PLIN2, VLDL Biogenesis and Lipid HomeostasisBenny Hung Junn Chang; Fiscal Year: 2013DESCRIPTION (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 ..
- REGULATION OF PHOSPHOLIPASE A2 IN HUMAN AMNIONLeslie Myatt; Fiscal Year: 2009..b>Adipophilin and perilipin are found in association with lipid droplets perhaps serving structural and functional roles in ..
- PAT PROTEINS: GENE-DIET INTERACTIONS OBESITY RISK AND HEALTHJose 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 ..
- Modulating the Folding of P23H Opsin by ChaperonesShalesh 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...
- ADRP function and lipid droplet localizationLAURA LISTENBERGER; Fiscal Year: 2007..A prime candidate for regulating these processes is adipocyte differentiation-related protein (ADRP)...
- Lipid droplet domains foster lipid storageBarbara 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 ..
- LACTATIONAL EFFECTORS OF TRIACYLGLYCEROL MOBILIZATIONJAMES MCMANAMAN; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Identifying the RP10 gene causing retinitis pigmentosaStephen Daiger; Fiscal Year: 2004..this project is to identify, that is, "clone," the RP10 gene which causes autosomal dominant retinitis pigmentosa (adRP)...
- HORMONAL REGULATION OF LUNG DEVELOPMENT; PTHrP BIOLOGYJohn 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. ..
- Lipid Droplets: Metabolic Consequences of Stored Neutral LipidsDawn Brasaemle; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- A High Throughput Imaging Assay for Hepatic Lipid Droplet FormationPatrick McDonough; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- HT Image Assay of Lipid Droplet Formation in Human AdipocytesPatrick 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...
- CELL SUBPOPULATIONS IN THE PRIMATE CORPUS LUTEUMRichard 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. ..
- PATHOGENESIS OF RETINAL DEGENERATIONSSamuel 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. ..
- LIPOPROTEIN METABOLISM AND HORMONAL REGULATIONLawrence 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. ..
- APOLIPOPROTEIN B48 AND LIPOPROTEIN METABOLISMLawrence 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. ..
- Early-onset retinal degenerationsSamuel Jacobson; Fiscal Year: 2005....
- CONFERENCE ON DIABETES MELLITUSMorris 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 ..
- FLOTILLINS AND INSULIN-STIMULATED GLUCOSE TRANSPORTPerry 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. ..
- MOLECULAR GENETICS OF PHOTOTRANSDUCTIONBih 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. ..
- Regulation and role of CEACAM6 in the lung alveolusPhilip 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. ..
- Development automated assay-regulators insulin synthesisPatrick McDonough; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- Induced islet neogenesis therapy in vivoLawrence Chan; Fiscal Year: 2007..unreadable] [unreadable]..
- High Throughput Imaging Assay for Beta-CateninPatrick McDonough; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- NOVEL THERAPY FOR DIABETESLawrence Chan; Fiscal Year: 2008..Finally, the best regimens identified by the experiments proposed are strong candidates for clinical trials in the future. ..
- Automated analysis of skeletal muscle fiber crossectional area and metabolic typePatrick McDonough; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Live cell and HCS assays to quantify production of cardiomyocytes from stem cellsPatrick 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]..
- Gene Modifiers of Retinal DegenerationHENRY DANCIGER; Fiscal Year: 2009..This would make therapeutic approaches simpler. ..