BSCL2

Summary

Gene Symbol: BSCL2
Description: BSCL2, seipin lipid droplet biogenesis associated
Alias: GNG3LG, HMN5, PELD, SPG17, seipin, Berardinelli-Seip congenital lipodystrophy 2 (seipin), Bernardinelli-Seip congenital lipodystrophy type 2 protein
Species: human

Top Publications

  1. pmc Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects
    Mao Fu
    Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    J Clin Endocrinol Metab 89:2916-22. 2004
  2. pmc The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
    Kimberly M Szymanski
    Department of Pharmacology, University of Texas Southwestern Medical School, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 104:20890-5. 2007
  3. pmc A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 10:289-97. 2009
  4. doi N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome
    V Rakocevic-Stojanovic
    Institute of Neurology, Clinical Center of Serbia, School of Medicine, University of Belgrade, 6, Dr Subotica Street, 11000 Belgrade, Serbia
    J Neurol Sci 296:107-9. 2010
  5. ncbi Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    J Magre
    INSERM U 402, Faculte de Medecine Saint Antoine, Universite Pierre et Marie Curie, 27 rue Chaligny, 75012 Paris, France
    Nat Genet 28:365-70. 2001
  6. ncbi Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes
    Vinaya Simha
    Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Endocrinol Metab 88:5433-7. 2003
  7. ncbi Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    Christian Windpassinger
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Nat Genet 36:271-6. 2004
  8. ncbi Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene
    Ken Ebihara
    Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 89:2360-4. 2004
  9. ncbi Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harachgasse 21 8, A 08010 Graz, Austria
    Ann Neurol 57:415-24. 2005
  10. pmc Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
    Weihua Fei
    Department of Biochemistry, National University of Singapore, Singapore 117597, Republic of Singapore
    J Cell Biol 180:473-82. 2008

Patents

  1. Primers for synthesizing full length cDNA clones and their use

Scientific Experts

Detail Information

Publications143 found, 100 shown here

  1. pmc Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects
    Mao Fu
    Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    J Clin Endocrinol Metab 89:2916-22. 2004
    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome...
  2. pmc The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
    Kimberly M Szymanski
    Department of Pharmacology, University of Texas Southwestern Medical School, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 104:20890-5. 2007
    ..BSCL2 encodes seipin, the function of which has been entirely unknown...
  3. pmc A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 10:289-97. 2009
    ..N88S) in BCLS2 (11q12-q14). All 12 affected relatives had the BSCL2 mutation and the chromosome 16p haplotype and showed features of motor neuron degeneration...
  4. doi N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome
    V Rakocevic-Stojanovic
    Institute of Neurology, Clinical Center of Serbia, School of Medicine, University of Belgrade, 6, Dr Subotica Street, 11000 Belgrade, Serbia
    J Neurol Sci 296:107-9. 2010
    Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin.
  5. ncbi Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    J Magre
    INSERM U 402, Faculte de Medecine Saint Antoine, Universite Pierre et Marie Curie, 27 rue Chaligny, 75012 Paris, France
    Nat Genet 28:365-70. 2001
    ..BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function...
  6. ncbi Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes
    Vinaya Simha
    Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Endocrinol Metab 88:5433-7. 2003
    ..O-acyltransferase 2 (AGPAT2) gene in CGL pedigrees linked to chromosome 9q34 (CGL1 subtype), and mutations in the Seipin gene were reported in pedigrees linked to chromosome 11q13 (CGL2 subtype)...
  7. ncbi Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    Christian Windpassinger
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Nat Genet 36:271-6. 2004
    ..Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #..
  8. ncbi Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene
    Ken Ebihara
    Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 89:2360-4. 2004
    ..Recently, seipin, encoding a 398-amino acid protein of unknown function, and AGPAT2, encoding 1-acyl-sn-glycerol-3-phosphate ..
  9. ncbi Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
    Michaela Auer-Grumbach
    Institute of Medical Biology and Human Genetics, Medical University Graz, Harachgasse 21 8, A 08010 Graz, Austria
    Ann Neurol 57:415-24. 2005
    ..Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders...
  10. pmc Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
    Weihua Fei
    Department of Biochemistry, National University of Singapore, Singapore 117597, Republic of Singapore
    J Cell Biol 180:473-82. 2008
    ..Interestingly, the expression of human seipin, whose mutant forms are associated with Berardinelli-Seip congenital lipodystrophy and motoneuron disorders, ..
  11. pmc The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation
    Victoria A Payne
    University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Diabetes 57:2055-60. 2008
    Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue...
  12. doi Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17
    Daisuke Ito
    Department of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Neurobiol Dis 31:266-77. 2008
    b>Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases...
  13. doi Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene
    H U Shirwalkar
    Department of Molecular Endocrinology, National Institute for Research in Reproductive Health ICMR, Jehangir Merwanji Street, Parel, Mumbai, 400 012, India
    J Inherit Metab Dis 31:S317-22. 2008
    ..Mutations in BSCL2 are known to be associated with a severe form of CGL and mental retardation (MR)...
  14. doi Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome
    Debora M Miranda
    Department of Paediatrics, Universidade Federal de Minas Gerais, Avenue Antonio Carlos 6627, Belo Horizonte, Brazil
    Clin Endocrinol (Oxf) 71:512-7. 2009
    ..or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes...
  15. doi Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy
    Emilie Boutet
    INSERM, UMR, CdR Saint Antoine, Paris, France
    Biochimie 91:796-803. 2009
    ..In most cases, BSCL is due to loss-of-function mutations in the genes encoding either seipin of unknown function or 1-acyl-glycerol-3-phosphate O-acyltransferase 2 (AGPAT2) which catalyses the formation of ..
  16. pmc The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation
    Weiqin Chen
    Division of Diabetes and Endocrinology, Department of Medicine, Baylor College of Medicine, Diabetes and Endocrinology Research Center, Houston, Texas 77030, USA
    Endocrinology 150:4552-61. 2009
    ..BSCL2 encodes a protein called seipin, whose function is largely unknown...
  17. doi N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress
    Takuya Yagi
    Department of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
    Hum Mol Genet 20:3831-40. 2011
    Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as '..
  18. pmc Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis
    Weihua Fei
    School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia
    J Lipid Res 52:2136-47. 2011
    The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin has been implicated in adipocyte differentiation, lipid droplet (LD) formation, and motor neuron development...
  19. doi Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2
    B O Choi
    Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea
    Neurogenetics 14:35-42. 2013
    ..S90W mutation in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene, after filtering 31 Korean control exomes. Our p...
  20. pmc The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
    H Patel
    Medical Genetics, St George s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, United Kingdom
    Am J Hum Genet 69:209-15. 2001
    ..one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14...
  21. ncbi Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients
    K B Gomes
    School of Pharmacy, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
    J Inherit Metab Dis 28:1123-31. 2005
    ..16 consanguineous pedigrees living in the northeastern region of Brazil had a homozygous 669insA mutation in the Seipin gene (BSCL2 locus), while all of the 10 investigated subjects from the southeastern region were homozygous for a ..
  22. ncbi Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases
    Daisuke Ito
    Department of Neurology, School of Medicine, Keio University, Shinjuku ku, Tokyo, Japan
    Ann Neurol 61:237-50. 2007
    Heterozygous mutations in the Seipin/BSCL2 gene have recently been identified in two autosomal dominant motor neuron diseases, distal hereditary motor neuropathy type V and Silver's syndrome...
  23. ncbi Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy
    Hyun Jung Cho
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon dong Gangnam gu, Seoul, 135 710 Korea
    Muscle Nerve 36:384-6. 2007
    ..BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome...
  24. doi Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations
    Atsushi Nishiyama
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
    Pediatr Int 51:775-9. 2009
    ..Recently, two genes, BSCL2 and AGPAT2, were identified as causative genes for CGL...
  25. doi Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs
    M Luigetti
    Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
    Muscle Nerve 42:448-51. 2010
    Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and ..
  26. ncbi BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy
    Bart P C van de Warrenburg
    Department of Neurology, Radboud University Nijmegen Medical Centre, 326, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 16:122-5. 2006
    Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN)...
  27. doi The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
    Gianfranco Cafforio
    Department of Neuroscience O U of Neurology, S Chiara Hospital, University of Pisa, Pisa, Italy
    Neurol Sci 29:189-91. 2008
    ..type V is underlined by the recent discovery of causative mutation in BSCL2 gene coding for a protein termed seipin, an integral membrane protein of endoplasmic reticulum, with unknown function...
  28. ncbi Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy
    Vinaya Simha
    Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Endocrinol Metab 88:2821-4. 2003
    ..In these four subjects, sequencing of other known genes implicated in lipodystrophies, i.e. AGPAT2, Seipin, and PPARG also revealed no substantial alterations...
  29. pmc Human lipodystrophies: genetic and acquired diseases of adipose tissue
    Jacqueline Capeau
    INSERM, U938, CdR Saint Antoine, Paris, France
    Endocr Dev 19:1-20. 2010
    ..recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2(AGPAT2)...
  30. ncbi A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
    Chin Med J (Engl) 121:430-4. 2008
    ..Thirteen loci for autosomal dominant HSP have been mapped...
  31. ncbi [Major insulin resistance syndromes: clinical and physiopathological aspects]
    C Vigouroux
    Unité INSERM 402, Faculte de Medecine Saint Antoine, 27, rue Chaligny, 75571 Paris
    J Soc Biol 195:249-57. 2001
    ..of the lamin A/C gene, and the congenital generalized lipodystrophy, linked to alterations in the protein seipin. However, their physiopathology remains mysterious...
  32. ncbi Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
    Anil K Agarwal
    Department of Internal Medicine, Division of Nutrition and Metabolic Diseases and Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Endocrinol Metab 88:4840-7. 2003
    ..in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were reported in pedigrees linked to chromosomes 9q34 and 11q13, respectively...
  33. ncbi Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil
    Karina Braga Gomes
    Department of Human Genetics, Instituto de Patologia Clinica Hermes Pardini, Belo Horizonte, Minas Gerais, 30140 070 Brazil
    J Clin Endocrinol Metab 89:357-61. 2004
    ..In this study, we investigated the presence of mutations in the Seipin and 1-acylglycerol phosphate acyltransferase 2 (AGPAT2) genes in 32 affected subjects with BSCL from 17 ..
  34. ncbi Membrane topology of the human seipin protein
    Carolina Lundin
    Department of Biochemistry and Biophysics, Stockholm University, SE 10691 Stockholm, Sweden
    FEBS Lett 580:2281-4. 2006
    The Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene encodes an integral membrane protein, called seipin, of unknown function localized to the endoplasmic reticulum of eukaryotic cells...
  35. ncbi The molecular genetics of non-ALS motor neuron diseases
    Paul A James
    Department of Physiology, Anatomy and Genetics, Oxford University, Oxford, UK
    Biochim Biophys Acta 1762:986-1000. 2006
    ..Neuron (Spastin, Atlastin, Paraplegin, HSP60, KIF5A, NIPA1) or mixed ALS-like phenotypes (Alsin, Senataxin, VAPB, BSCL2)...
  36. doi Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity
    Corinne Vigouroux
    INSERM UMR_S938, Centre de Recherche Saint Antoine, Paris, France
    Int J Biochem Cell Biol 43:862-76. 2011
    ..synthesis towards the lipid droplet (1-acylglycerol-3-phosphate-O-acyltransferase 2), or its functions (seipin, cell death-inducing DFF45-like effector C, perilipin, caveolin-1, cavin-1)...
  37. doi Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations
    Marios Panas
    Neurogenetics Unit, Department of Neurology, Eginition Hospital, University of Athens, Athens, Greece
    Neurologist 17:211-2. 2011
    ..In addition to the previously identified locus SPG17 on chromosome 11q12-q14, a new locus (SPG38) on chromosome 4p16-p15 has been recently identified, a region that ..
  38. pmc Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain
    Alastair S Garfield
    Department of Pharmacology, University of Cambridge, Cambridge, United Kingdom
    PLoS ONE 7:e45790. 2012
    The endoplasmic reticulum localised protein seipin, encoded by the gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), serves a critical but poorly defined function in the physiology of both adipose and neural tissue...
  39. doi Seipin promotes adipose tissue fat storage through the ER Ca²⁺-ATPase SERCA
    Junfeng Bi
    State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China University of Chinese Academy of Sciences, Beijing 100049, China
    Cell Metab 19:861-71. 2014
    ..lipodystrophy type 2 (BSCL2), one of the most severe lipodystrophy diseases, is caused by mutation of the Seipin gene...
  40. pmc Towards a mechanistic understanding of lipodystrophy and seipin functions
    Kenneth Wee
    Singapore Bioimaging Consortium, Agency for Science, Technology and Research A STAR, Singapore
    Biosci Rep 34:. 2014
    ..four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss of both metabolic and mechanical adipose depots...
  41. doi Clinical and electrophysiological features in a French family presenting with seipinopathy
    Yolaine Ollivier
    Centre de référence Maladies Neuromusculaires Nantes Angers, CHU de Nantes, Nantes, France
    Neuromuscul Disord 25:161-4. 2015
    ..affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene...
  42. pmc Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology
    Bethany R Cartwright
    Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX 75235 9041
    Mol Biol Cell 26:726-39. 2015
    b>Seipin is necessary for both adipogenesis and lipid droplet (LD) organization in nonadipose tissues; however, its molecular function is incompletely understood...
  43. doi Expression of seipin in adipose tissue rescues lipodystrophy, hepatic steatosis and insulin resistance in seipin null mice
    Mingming Gao
    Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Peking University Health Science Center, Beijing, 100191, China
    Biochem Biophys Res Commun 460:143-50. 2015
    Gene mutations in an ER protein seipin result in congenital generalized lipodystrophy (CGL) in humans, accompanied with hepatic steatosis and insulin resistance. Seipin gene is highly expressed in the brain, testis and adipose tissue...
  44. doi Dysfunction of lipid metabolism in lipodystrophic Seipin-deficient mice
    Mengyu Wang
    Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Peking University Health Science Center, Beijing 100191, China
    Biochem Biophys Res Commun 461:206-10. 2015
    ..However, the mechanisms of dyslipidemia and hepatic steatosis are unclear. Here using the lipodystrophic Seipin-deficient mouse (Seipin(-/-)) model, we found Seipin(-/-) mice were unable to respond appropriately to a long time ..
  45. pmc Arabidopsis SEIPIN Proteins Modulate Triacylglycerol Accumulation and Influence Lipid Droplet Proliferation
    Yingqi Cai
    Department of Biological Sciences, Center for Plant Lipid Research, University of North Texas, Denton, Texas 76203
    Plant Cell 27:2616-36. 2015
    The lipodystrophy protein SEIPIN is important for lipid droplet (LD) biogenesis in human and yeast cells...
  46. pmc Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
    Cheng Tsung Hsiao
    Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
    PLoS ONE 11:e0147677. 2016
    A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan.
  47. pmc Expression of genes involved in lipid droplet formation (BSCL2, SNAP23 and COPA) during porcine in vitro adipogenesis
    Beata Kociucka
    Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60 637, Poznan, Poland
    J Appl Genet 57:505-510. 2016
    ..In the present study, expression of three genes involved in lipid droplet formation (SNAP23, BSCL2 and COPA) was evaluated during porcine adipogenesis...
  48. doi Seinpin knockout exacerbates cerebral ischemia/reperfusion damage in mice
    Yong Chen
    Department of Neurology, People s Hospital of Deyang City, Taishian North Road 173, Deyang City, 618000, China
    Biochem Biophys Res Commun 474:377-83. 2016
    b>Seipin, which regulates adipocyte differentiation and lipolysis, inducing severe lipodystrophy and metabolic syndromes, is also highly expressed in the nervous system and affects some neurological diseases...
  49. pmc Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration
    Kavitha Rao
    Biochemistry and Molecular Biology and Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA 16802
    Mol Biol Cell 27:3245-3256. 2016
    ..Axon regeneration was similarly impaired in neurons when HSP proteins atlastin, seipin, and spichthyin were reduced...
  50. doi Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review
    Roberta Opri
    University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, Piazzale L A Scuro 10, 37134 Verona, Italy Electronic address
    Seizure 42:1-6. 2016
    A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported...
  51. doi Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation
    Benoît Renvoisé
    Cell Biology Section, Neurogenetics Branch
    Hum Mol Genet . 2016
    ..lipodystrophy is caused by autosomal recessive mutations in the BSCL2 gene that encodes an ER protein, seipin, that is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome)...
  52. doi ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia
    Thomas Musacchio
    Department of Neurology, University Hospital Wurzburg, Wurzburg, Germany
    J Neurol 264:11-20. 2017
    Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP)...
  53. doi SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase
    Martin Pagac
    School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia
    Cell Rep 17:1546-1559. 2016
    Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) is caused by loss-of-function mutations in SEIPIN, a protein implicated in both adipogenesis and lipid droplet expansion but whose molecular function remains obscure...
  54. ncbi [Hereditary distal motor neuropathy due to mutation of BSCL2]
    M Rafael
    Centro Hospitalar Barreiro Montijo, Barreiro, Portugal
    Rev Neurol 64:45-47. 2017
    Neuropatia hereditaria motora distal por mutacion en BSCL2.
  55. ncbi Seipin: a mysterious protein
    Anil K Agarwal
    Division of Nutrition and Metabolic Diseases, the Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Trends Mol Med 10:440-4. 2004
  56. ncbi A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia
    Thomas T Warner
    Dept of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
    J Neurol 251:1068-74. 2004
    ..We have previously described a large kindred with SS and mapped a genetic locus (SPG17) to chromosome 11q12-q14...
  57. ncbi Genetic disorders of adipose tissue development, differentiation, and death
    Anil K Agarwal
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 9052, USA
    Annu Rev Genomics Hum Genet 7:175-99. 2006
    ..and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear)...
  58. doi [Congenital generalized lipodystrophy: a case report with neurological involvement]
    H Ben Turkia
    Service de Pediatrie, Hopital La Rabta, Jebbari, Tunis, Tunisie
    Arch Pediatr 16:27-31. 2009
    ..At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance...
  59. pmc Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations
    Savitha Shastry
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA
    Am J Med Genet A 152:2245-53. 2010
    ..Three CGL loci, AGPAT2, BSCL2, and CAV1, have been identified previously...
  60. pmc Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation
    Weiqin Chen
    Address correspondence to Lawrence Chan
    Mol Cell Biol 32:1099-111. 2012
    Mutations in BSCL2 underlie human congenital generalized lipodystrophy. We inactivated Bscl2 in mice to examine the mechanisms whereby absence of Bscl2 leads to adipose tissue loss and metabolic disorders...
  61. pmc Seipin: from human disease to molecular mechanism
    Bethany R Cartwright
    Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9041, USA
    J Lipid Res 53:1042-55. 2012
    The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations in BSCL2/seipin. Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum that concentrates at junctions with cytoplasmic ..
  62. doi How to diagnose a lipodystrophy syndrome
    Marie Christine Vantyghem
    INSERM U859, Service d Endocrinologie et Maladies Métaboliques, Hopital Huriez, CHRU de Lille, 1, rue Polonovski, 59000 Lille, France
    Ann Endocrinol (Paris) 73:170-89. 2012
    ..The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome ..
  63. doi A new seipin-associated neurodegenerative syndrome
    Encarna Guillen-Navarro
    Unit of Medical Genetics and Dysmorphology, Division of Pediatrics, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
    J Med Genet 50:401-9. 2013
    b>Seipin/BSCL2 mutations can cause type 2 congenital generalised lipodystrophy (BSCL) or dominant motor neurone diseases. Type 2 BSCL is frequently associated with some degree of intellectual impairment, but not to fatal neurodegeneration...
  64. doi Role of seipin in lipid droplet morphology and hepatitis C virus life cycle
    Sophie Clement
    Division of Clinical Pathology, University Hospital, University of Geneva School of Medicine, Geneva, Switzerland
    J Gen Virol 94:2208-14. 2013
    ..We analysed the relationship between HCV and seipin, a protein involved in lipid droplet maturation...
  65. doi Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission
    Shunhui Wei
    Laboratory of Metabolic Medicine, Singapore Bioimaging Consortium, A STAR, Singapore
    J Neurochem 129:328-38. 2014
    Gain-of-toxic-function mutations in Seipin (Asparagine 88 to Serine (N88S) and Serine 90 to Leucine (S90L) mutations, both of which disrupt the N-glycosylation) cause autosomal dominant motor neuron diseases...
  66. doi Control of lipid droplet size in budding yeast requires the collaboration between Fld1 and Ldb16
    Chao Wen Wang
    Institute of Plant and Microbial Biology, Academia Sinica, Nankang, Taipei 11529, Taiwan
    J Cell Sci 127:1214-28. 2014
    The human congenital generalized lipodystrophy type 2 protein seipin (Fld1 in budding yeast) controls lipid droplet (LD) size through an unknown mechanism...
  67. doi Analyzing the functions and structure of the human lipodystrophy protein seipin
    M F Michelle Sim
    Institute of Metabolic Science, Addenbrooke s Hospital, University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom
    Methods Enzymol 537:161-75. 2014
    Disruption of the gene BSCL2, which encodes the protein seipin, causes severe generalized lipodystrophy in humans with a near complete absence of adipose tissue...
  68. pmc Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
    Jens Schuster
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala, Sweden
    BMC Med Genet 15:71. 2014
    ....
  69. pmc Segregated responses of mammary gland development and vaginal opening to prepubertal genistein exposure in Bscl2(-/-) female mice with lipodystrophy
    Rong Li
    Department of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, Athens, GA 30602, USA Interdisciplinary Toxicology Program, University of Georgia, Athens, GA 30602, USA Electronic address
    Reprod Toxicol 54:76-83. 2015
    ..Bscl2-encoded seipin is detected in adipocytes and epithelium of mammary gland...
  70. doi BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature
    Zhidong Cen
    Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China
    J Clin Neurosci 22:429-30. 2015
    ..Most reported patients (21 of 26) with this mutation showed a phenotype of Silver syndrome. The S90L mutation is predominantly associated with Silver syndrome. ..
  71. pmc Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation
    Hua Dong Fan
    1 School of Nuclear Science and Technology, University of Science and Technology of China, Hefei 230026, China 2 Key Laboratory of Ion Beam Bioengineering, Chinese Academy of Sciences and Anhui Province, Hefei 230031, China
    Acta Pharmacol Sin 36:497-506. 2015
    b>Seipin is a protein that resides in endoplasmic reticulum, and involved in both lipid metabolic disorders and motor neuropathy...
  72. doi Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis
    Chihiro Ebihara
    Department of Medicine and Clinical Science
    Hum Mol Genet 24:4238-49. 2015
    b>Seipin, encoded by BSCL2 gene, is a protein whose physiological functions remain unclear. Mutations of BSCL2 cause the most-severe form of congenital generalized lipodystrophy (CGL)...
  73. pmc Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals
    Hongyi Zhou
    Department of Physiology, Georgia Regents University, Augusta, GA 30912
    J Lipid Res 56:1912-25. 2015
    Mutations in BSCL2/SEIPIN cause Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), but the mechanisms whereby Bscl2 regulates adipose tissue function are unclear...
  74. doi Seipin is involved in the regulation of phosphatidic acid metabolism at a subdomain of the nuclear envelope in yeast
    Heimo Wolinski
    Institute of Molecular Biosciences, BioTechMed Graz, University of Graz, Austria Electronic address
    Biochim Biophys Acta 1851:1450-64. 2015
    Yeast Fld1 and Ldb16 resemble mammalian seipin, implicated in neutral lipid storage. Both proteins form a complex at the endoplasmic reticulum-lipid droplet (LD) interface...
  75. doi [Genetics of congenital lipodystrophies]
    A Buffet
    Service d endocrinologie, Nutrition et Maladies Metaboliques, CHU Larrey, 24 chemin de Pouvourville, TSA 30030, 31059 Toulouse, France Electronic address
    Ann Endocrinol (Paris) 76:S2-9. 2015
    ..Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms...
  76. ncbi Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature
    Beate Winner
    Department of Neurology, University of Regensburg, Regensburg, Germany
    Clin Neurol Neurosurg 108:692-8. 2006
    ..Sequence analysis did not reveal disease causing mutations in the genes SLC12A6 (Andermann), Spastin (SPG 4), BSCL2 (SPG 17) and Spartin (SPG 20)...
  77. ncbi [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]
    Daisuke Ito
    Department of Neurology, School of Medicine, Keio University
    Rinsho Shinkeigaku 47:329-35. 2007
    In 2004, heterozygous mutations (N88S, S90L) in the Seipin/BSCL2 gene were identified in two autosomal dominant motor neuron diseases, distal hereditary motor neuropathy type V (OMIM #182960) and Silver syndrome (OMIM #270685)...
  78. doi Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency
    Barbara Antuna-Puente
    Institut National de la Sante et de la Recherche Medicale, Unité 938, University Pierre and Marie Curie, Faculte de Medecine Pierre et Marie Curie, site Saint Antoine, 27 rue Chaligny, 75012 Paris France
    J Clin Endocrinol Metab 95:1463-8. 2010
    ..The mechanisms linking fat loss to severe insulin resistance remain unclear. Adipokines may have important roles as intermediary players in metabolism...
  79. doi Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome
    Caterina Pelosini
    Department of Endocrinology and Kidney, University Hospital of Pisa, Italy
    Acta Diabetol 48:243-6. 2011
    ..the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed...
  80. ncbi The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Brain 127:2124-30. 2004
    ..We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, seipin) gene causing SPG17 and distal hereditary motor neuropathy type V (distal HMN V)...
  81. doi Seipin ablation in mice results in severe generalized lipodystrophy
    Xin Cui
    Institute of Cardiovascular Sciences, Ministry of Education, Peking University Health Science Center, Beijing 100191, People s Republic of China
    Hum Mol Genet 20:3022-30. 2011
    ..Here, we create the first murine model of BSCL2 by targeted disruption of seipin, the causative gene for BSCL2...
  82. doi Clinical review#: Lipodystrophies: genetic and acquired body fat disorders
    Abhimanyu Garg
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 8537, USA
    J Clin Endocrinol Metab 96:3313-25. 2011
    ..The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, and hepatic steatosis...
  83. doi Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy
    Xin Cui
    School of Biotechnology and Biomolecular Sciences, Univ of New South Wales, Sydney, Australia
    Am J Physiol Endocrinol Metab 302:E705-13. 2012
    ..BSCL2 is caused by loss-of-function mutations in the BSCL2/seipin gene, which encodes seipin...
  84. doi Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome
    Maria Goretti Do Nascimento Santos
    Postgraduate Program in Health Sciences, Federal University of Rio Grande do Norte UFRN, Natal, Brazil
    J Trace Elem Med Biol 26:7-12. 2012
    ..It is caused by mutations in AGPAT2 or Gng3lg. We evaluated 10 BSS patients and 10 healthy subjects. A single dose of 382...
  85. doi Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series
    Manuela Pennisi
    Biochemistry and Molecular Biology Section, Department of Chemistry, University of Catania, Catania, Italy
    Acta Neurol Belg 112:57-64. 2012
    ..This broad phenotypic and genotypic spectrum calls the clinician attention to this rare and still insufficiently known disease...
  86. doi A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
    Claudia Dufke
    Department of Medical Genetics, Eberhard Karls University, Tubingen, Germany
    Neurogenetics 13:215-27. 2012
    ..with autosomal dominant HSP and 40 positive controls with known mutations in ATL1, SPAST, NIPA1, KIF5A, and BSCL2 (32 base exchanges, eight small indels) were resequenced on this array...
  87. doi [Lipoatrophic diabetes. A therapeutic challenge]
    L Martins Ribeiro
    Unidade de Endocrinologia Pediátrica, Servico de Pediatria, Centro Hospitalar do Porto, Porto, Portugal
    An Pediatr (Barc) 78:54-8. 2013
    ..The established diagnosis was then confirmed by identifying a mutation in the BSCL2 gene...
  88. doi Comparison of brown and white adipose tissue fat fractions in ob, seipin, and Fsp27 gene knockout mice by chemical shift-selective imaging and (1)H-MR spectroscopy
    Xin Gui Peng
    Jiangsu Key Laboratory of Molecular and Functional Imaging, Department of Radiology, Zhongda Hospital, Medical School, Southeast University, Nanjing, China
    Am J Physiol Endocrinol Metab 304:E160-7. 2013
    ..of WAT and BAT, we investigated the fat fraction (FF) in two types of adipose tissues in ob/ob, human BSCL2/seipin gene knockout (SKO), Fsp27 gene knockout (Fsp27(-/-)), and wild-type (WT) mice in vivo using chemical shift ..
  89. doi Seipin regulates excitatory synaptic transmission in cortical neurons
    Shunhui Wei
    Laboratory of Metabolic Medicine, Singapore Bioimaging Consortium, A STAR, Singapore
    J Neurochem 124:478-89. 2013
    Heterozygosity for missense mutations in Seipin, namely N88S and S90L, leads to a broad spectrum of motor neuropathy, while a number of loss-of-function mutations in Seipin are associated with the Berardinelli-Seip congenital generalized ..
  90. doi Alleviation of seipinopathy-related ER stress by triglyceride storage
    Maarit Hölttä-Vuori
    Institute of Biomedicine, Anatomy, University of Helsinki, 00014 Helsinki, Finland
    Hum Mol Genet 22:1157-66. 2013
    Mutations affecting the N-glycosylation site in Berardinelli-Seip lipodystrophy (BSCL)-associated gene BSCL2/seipin lead to a dominantly inherited spastic paraplegia termed seipinopathy...
  91. pmc A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction
    Ellen H Jeninga
    Department of Metabolic Diseases, UMC Utrecht, Room KE 03 139 2, Lundlaan 6, 3584 EA, Utrecht, The Netherlands
    JIMD Rep 4:47-54. 2012
    ..mutations in AGPAT2, encoding 1-acyl-glycerol-3-phosphate-acyltransferase 2 (CGL1; MIM 608594), BSCL2, encoding seipin (CGL2; MIM 269700), CAV1, encoding caveolin1 (CGL3; MIM 612526) or PTRF, encoding polymerase I and transcript ..
  92. pmc Motor neuron degeneration in a mouse model of seipinopathy
    J Guo
    Laboratory of Metabolic Medicine, Singapore Bioimaging Consortium, Agency for Science, Technology and Research A STAR, Singapore, Singapore
    Cell Death Dis 4:e535. 2013
    Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip congenital lipodystrophy type 2)/Seipin is associated with a broad spectrum of motoneuron diseases...
  93. pmc Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
    Obaid Ur Rahman
    Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25000, Pakistan
    Diagn Pathol 8:78. 2013
    ..There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.
  94. pmc Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms
    M F Michelle Sim
    University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Diabetologia 56:2498-506. 2013
    In humans, disruption of the gene BSCL2, encoding the protein seipin, causes congenital generalised lipodystrophy (CGL) with severe insulin resistance and dyslipidaemia...
  95. doi BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling
    Wulin Yang
    Singapore Bioimaging Consortium
    Hum Mol Genet 23:502-13. 2014
    b>Seipin regulates lipid homeostasis by preventing lipid droplet (LD) formation in non-adipocytes but promoting it in developing adipocytes. Here, we report that seipin interacts with 14-3-3β through its N- and C-termini...
  96. pmc Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient mice
    Weiqin Chen
    Department of Physiology, Medical College of Georgia at Georgia Regents University, Augusta, Georgia, United States of America
    PLoS ONE 8:e82526. 2013
    Mutations in BSCL2 underlie human congenital generalized lipodystrophy type 2 disease. We previously reported that Bscl2 (-/-) mice develop lipodystrophy of white adipose tissue (WAT) due to unbridled lipolysis...
  97. ncbi Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg
    G B Downes
    Department of Anesthesiology, Washington University School of Medicine, St Louis, Missouri, 63110, USA
    Genomics 53:220-30. 1998
    ..Sequence analysis of the 5' flanking region of Gng3 revealed the presence of a novel gene, the gamma3 linked gene (Gng3lg)...
  98. ncbi Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet 110:219-25. 2002
    ..Molecular analysis of these cases showed homozygosity at the BSCL2 locus on chromosome 11q13 in four of the seven cases...
  99. pmc Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
    L Van Maldergem
    Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
    J Med Genet 39:722-33. 2002
    ..More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families...

Research Grants11

  1. Joel M Goodman; Fiscal Year: 2016
    ..The most severe form of lipodystrophy is the fault of mutations in the gene that encodes seipin. Considering the negative outcomes and the costs associated with poor fat storage, it is surprising that there are ..
  2. MECHANISMS OF LIPODYSTROPHY IN HIV INFECTED PATIENTS
    Abhimanyu Garg; Fiscal Year: 2002
    ..Additionally, the study may prove effectiveness and reduced toxicity of alternative antiretroviral regimens without a PI. ..
  3. Therapeutic Approaches to HAART-Induced Lipodystrophy
    Abhimanyu Garg; Fiscal Year: 2006
    ..Additionally, the study may help prevent these problems in HIV-infected patients being initiated on PI-containing HAART. ..
  4. Phase II study of cholic acid for hepatic steatosis in *
    Abhimanyu Garg; Fiscal Year: 2008
    ..The effectiveness of cholic acid in reducing hepatic steatosis in humans remains unknown. [unreadable] [unreadable]..
  5. Lipoprotein Metabolism 2008 Gordon Research Conference
    Robert Hegele; Fiscal Year: 2008
    ..End of Abstract) [unreadable] [unreadable] [unreadable]..
  6. Novel Therapies for Metabolic Complications in Patients with Lipodystrophies
    Abhimanyu Garg; Fiscal Year: 2010
    ..Additionally, the findings may be applicable to treating metabolic complications in patients with obesity and type 2 diabetes. ..
  7. International Symposium for Hereditary Spastic Paraplegia
    John Fink; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  8. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009
    ....
  9. HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,
    John Fink; Fiscal Year: 2001
    ..abstract_text> ..

Patents1

  1. Primers for synthesizing full length cDNA clones and their use
    Patent Number: EP1396543-A2; Date:2004-03-10