BSCL2

Summary

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

Top Publications

  1. ncbi 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. ncbi 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. ncbi Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
    Bin Chen
    Department of Neurology and Laboratory of Neuropathology, First Hospital of Peking University, Beijing, China
    Neuropathology 29:543-7. 2009
  4. ncbi 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
  5. ncbi Efficacy of leptin therapy in the different forms of human lipodystrophy
    A Y Chong
    Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Diabetologia 53:27-35. 2010
  6. 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
  7. 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
  8. 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
  9. ncbi 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
  10. 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

Research Grants

  1. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2010
  2. A Simple Cellular Model for Lipodystrophy
    Joel M Goodman; Fiscal Year: 2010
  3. A Simple Cellular Model for Lipodystrophy
    Joel M Goodman; Fiscal Year: 2010
  4. A Simple Cellular Model for Lipodystrophy
    Joel Goodman; Fiscal Year: 2009
  5. Phase II study of cholic acid for hepatic steatosis in *
    Abhimanyu Garg; Fiscal Year: 2007
  6. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2007
  7. Novel Therapies for Metabolic Complications in Patients with Lipodystrophies
    Abhimanyu Garg; Fiscal Year: 2007
  8. Therapeutic Approaches to HAART-Induced Lipodystrophy
    Abhimanyu Garg; Fiscal Year: 2006
  9. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2009
  10. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2010

Scientific Experts

Detail Information

Publications76

  1. ncbi 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. ncbi 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. ncbi Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
    Bin Chen
    Department of Neurology and Laboratory of Neuropathology, First Hospital of Peking University, Beijing, China
    Neuropathology 29:543-7. 2009
    ..is an autosomal dominant inherited distal motor neuropathy caused by Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene mutations...
  4. ncbi 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...
  5. ncbi Efficacy of leptin therapy in the different forms of human lipodystrophy
    A Y Chong
    Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Diabetologia 53:27-35. 2010
    ....
  6. 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)...
  7. 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...
  8. 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...
  9. ncbi 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...
  10. 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...
  11. 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 #..
  12. 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 ..
  13. ncbi 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
    ..harboring mutations in the genes encoding either 1-acylglycerol-3-phosphate-O-acyltransferase-2 (AGPAT2) or BSCL2/seipin, in comparison with patients with other forms of inherited or acquired lipodystrophies or insulin receptor ..
  14. 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...
  15. ncbi 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...
  16. 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)...
  17. ncbi 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)...
  18. ncbi 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.
  19. 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...
  20. 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)...
  21. ncbi [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...
  22. 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...
  23. ncbi Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family
    Elisabeth Andreadou
    Department of Neurology, Athens National University, Aeginition Hospital, Athens, Greece
    Neurologist 15:156-60. 2009
    ..Despite being a sporadic disorder, familial forms have been occasionally described, with either autosomal recessive or dominant inheritance...
  24. ncbi 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. ncbi 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...
  26. ncbi Lipodystrophies: disorders of adipose tissue biology
    Abhimanyu Garg
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA
    Biochim Biophys Acta 1791:507-13. 2009
    ..Another protein, seipin (encoded by BSCL2 gene), has been found to induce lipid droplet fusion...
  27. ncbi Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation
    B Friguls
    Department of Paediatrics, Germans Trias i Pujol Hospital, Badalona, Autonomous University of Barcelona, Spain
    Eur J Med Genet 52:14-6. 2009
    ..Disease-causing mutations have been described in AGPAT2 and BSCL2 genes...
  28. ncbi Seipinopathy: a novel endoplasmic reticulum stress-associated disease
    Daisuke Ito
    Department of Neurology, School of Medicine, Keio University, Tokyo, Japan
    Brain 132:8-15. 2009
    The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2 (CGL2), a condition characterized by severe lipoatrophy, insulin resistance, hypertriglyceridaemia and mental ..
  29. ncbi 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...
  30. ncbi The distal hereditary motor neuropathies
    Alexander M Rossor
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 83:6-14. 2012
    ..The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (..
  31. ncbi Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies
    A P Drew
    University of Sydney, Sydney, NSW, Australia
    Curr Mol Med 11:650-65. 2011
    ..The mutated genes identified to-date in dHMN include HSPB1, HSPB8, HSPB3, DCTN1, GARS, PLEKHG5, BSCL2, SETX, IGHMBP2, ATP7A and TRPV4...
  32. ncbi A role for phosphatidic acid in the formation of "supersized" lipid droplets
    Weihua Fei
    School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia
    PLoS Genet 7:e1002201. 2011
    ..The mutated genes include: FLD1, which encodes a homologue of mammalian seipin; five genes (CDS1, INO2, INO4, CHO2, and OPI3) that are known to regulate phospholipid metabolism; two genes (CKB1 ..
  33. ncbi Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation
    Yuan Tian
    Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
    PLoS Genet 7:e1001364. 2011
    ..of human lipodystrophy, Berardinelli-Seip Congenital Lipodystrophy 2, which is caused by mutations in the BSCL2/Seipin gene...
  34. ncbi Seipin, adipogenesis and lipid droplets
    Weihua Fei
    School of Biotechnology and Biomolecular Sciences, The University of New South Wales, Sydney, NSW 2052, Australia
    Trends Endocrinol Metab 22:204-10. 2011
    b>Seipin, the human Berardinelli-Seip congenital lipodystrophy 2 gene product, regulates adipocyte differentiation and lipid droplet (LD) formation. The molecular function of seipin, however, remains to be elucidated...
  35. ncbi A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene
    Hsiu Hui Huang
    Department of Family Medicine, Kaohsiung Medical University Hospital, Taiwan
    Kaohsiung J Med Sci 26:615-20. 2010
    ..Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extensive fat loss ..
  36. ncbi Seipin is a discrete homooligomer
    Derk Binns
    Department of Pharmacology, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, United States
    Biochemistry 49:10747-55. 2010
    b>Seipin is a transmembrane protein that resides in the endoplasmic reticulum and concentrates at junctions between the ER and cytosolic lipid droplets...
  37. ncbi Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene
    Luitgard M Graul-Neumann
    Institut fur Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 152:2749-55. 2010
    ..We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C)...
  38. ncbi Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy
    B Victoria
    Thyroid and Metabolic Diseases Unit UETeM, Department of Medicine, University of Santiago de Compostela, Spain
    Diabet Med 27:1178-87. 2010
    ..The aim of this study was to investigate the in vitro effects of pioglitazone on the expression of genes involved in adipogenesis in fibroblasts from a patient with this condition due to a seipin mutation.
  39. ncbi 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 ..
  40. ncbi Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment
    Beatrice C Lupsa
    Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Medicine (Baltimore) 89:245-50. 2010
    ..Hypertrophic cardiomyopathy was more frequent in patients with seipin mutation, a finding consistent with the literature...
  41. ncbi The ToxTracker assay: novel GFP reporter systems that provide mechanistic insight into the genotoxic properties of chemicals
    Giel Hendriks
    Department of Toxicogenetics, Leiden University Medical Center, 2300RC Leiden, The Netherlands
    Toxicol Sci 125:285-98. 2012
    ..The Bscl2-GFP reporter is selectively activated after exposure to genotoxic agents and its induction is associated with ..
  42. ncbi Clinical classification and treatment of congenital and acquired lipodystrophy
    Jean L Chan
    Amylin Pharmaceuticals, Inc, San Diego, California, USA
    Endocr Pract 16:310-23. 2010
    ....
  43. ncbi A role for seipin in lipid droplet dynamics and inheritance in yeast
    Heimo Wolinski
    Institute of Molecular Biosciences, University of Graz, Humboldtstr 50 II, 8010 Graz, Austria
    J Cell Sci 124:3894-904. 2011
    ..Deletion of FLD1, the functional orthologue of the human BSCL2 gene encoding seipin, leads to impaired dynamics of yeast lipid droplets and defective lipolysis, which might be due to aberrant ER ..
  44. ncbi Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability
    Vinaya Simha
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    Am J Med Genet A 146:2318-26. 2008
    ..genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2), and Caveolin-1 (CAV1) are associated with the three subtypes of this disorder, CGL1, CGL2 and CGL3, respectively...
  45. ncbi 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...
  46. ncbi Berardinelli-Seip congenital lipodystrophy
    Kausik Mandal
    Department of Pediatrics and Dermato logy, Kalawati Saran Childrens Hospital, New Delhi 110 001, India
    Indian Pediatr 43:440-5. 2006
    ..On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX...
  47. ncbi Diseases of adipose tissue: genetic and acquired lipodystrophies
    J Capeau
    INSERM U680, Saint Antoine Faculty of Medicine, Université Pierre et Marie Curie UPMC, Paris, France
    Biochem Soc Trans 33:1073-7. 2005
    ..complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylglycerol synthesis...
  48. 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)...
  49. ncbi Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings
    M Raygada
    Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 4429, USA
    Clin Genet 67:98-101. 2005
    ..been identified to harbor the mutations causing this disorder: BSCL1 mapped to human chromosome 9q34 (1, 2) and BSCL2 mapped to human chromosome 11q13 (1, 3)...
  50. ncbi Mice with deficiency of G protein gamma3 are lean and have seizures
    William F Schwindinger
    Geisinger Clinic, Weis Center for Research, 100 North Academy Ave, Danville, PA 17822, USA
    Mol Cell Biol 24:7758-68. 2004
    ..Gng3-/- mice show no detectable expression of the Gng3 gene, but expression of the divergently transcribed Bscl2 gene is not affected...
  51. 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)...
  52. ncbi Genetic basis of congenital generalized lipodystrophy
    A K Agarwal
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, 75390, USA
    Int J Obes Relat Metab Disord 28:336-9. 2004
    ..1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2 or Seipin) genes in affected subjects from pedigrees linked to chromosomes 9q34 and 11q13, respectively...
  53. ncbi Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, N6A5K8, Canada
    Trends Endocrinol Metab 14:371-7. 2003
    ..results from mutations in either AGPAT2 (encoding 1-acylglycerol-3-phosphate O-acyltransferase) or BSCL2 (encoding seipin), can display features seen in the common metabolic syndrome...
  54. ncbi Prevalence of mutations in AGPAT2 among human lipodystrophies
    Jocelyne Magré
    INSERM U 402, Saint Antoine Faculty of Medicine, University of Pierre and Marie Curie, 27 rue Chaligny, 75571 Paris Cedex, France
    Diabetes 52:1573-8. 2003
    ..We have previously identified mutations in the seipin gene in a subset of our patients' cohort...
  55. ncbi Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus
    P J Kaisaki
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, United Kingdom
    Cytogenet Genome Res 98:71-4. 2002
    Mutations in the gene encoding seipin cause Berardinelli-Seip congenital lipodystrophy 2, with symptoms including near-absence of adipose tissue and altered glucose tolerance...
  56. ncbi 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...
  57. 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...
  58. ncbi [Lipodystrophic syndromes: congenital or acquired diseases of adipose tissue]
    Jacqueline Capeau
    INSERM, U680, Universite Pierre et Marie Curie, site Saint Antoine, Faculte de Medecine, 27, rue Chaligny, 75571 Paris Cedex 12, France
    C R Biol 329:639-52; discussion 653-5. 2006
    ..Genetic forms, rare, can be generalized and recessive resulting from mutations in the seipin or AGPAT2 gene...
  59. ncbi [Primary lipodystrophies]
    J Capeau
    INSERM, U680, 75012 Paris, France
    Ann Endocrinol (Paris) 68:10-20. 2007
    ..syndrome) result, in most cases, from recessive mutations in one of two genes: either BSCL2 coding seipin or BSCL1 coding AGPAT2, an acyl-transferase involved in triglyceride synthesis...
  60. ncbi Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
    Ines Dierick
    Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1217-27. 2008
    ..27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Seip congenital lipodystrophy (BSCL2) and senataxin (SETX)...
  61. ncbi 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, ..
  62. ncbi [Silver syndrome--case report]
    Andrzej Kochanski
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Dooewiadczalnej i Klinicznej Polskiej Akademii Nauk im M Mossakowskiego w Warszawie
    Neurol Neurochir Pol 41:562-6. 2007
    ..The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families...
  63. ncbi Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
    C A Kim
    Department of Pediatrics, Instituto da Criança, University of Sao Paulo, 05403 900 Sao Paulo, Brazil
    J Clin Endocrinol Metab 93:1129-34. 2008
    ..In most reported cases, BSCL is due to alterations in either seipin, of unknown function, or 1-acylglycerol-3-phosphate acyltransferase-beta (AGPAT2), which catalyzes the formation ..
  64. ncbi Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome
    Mishthu Solanki
    Department of Pediatric and Preventive Dentistry, P M N M Dental College and Hospital, Karnataka, India
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 105:e41-7. 2008
    ..It is well documented in medicine and skin. It is a rare disorder caused by mutations of AGPAT2 gene or BSCL2 gene...
  65. ncbi Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus
    Jing Jin
    Department of Endocrinology and Metabolism, Children s Hospital of Fudan University, Shanghai 200032, China
    Eur J Endocrinol 157:783-7. 2007
    ..Congenital generalized lipodystrophy (CGL) is a rare and heterogeneous disease of autosomal recessive inheritance. Until now, no genetic findings had been reported in Chinese patients with CGL...
  66. ncbi Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil
    K B Gomes
    Faculdade de Farmacia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
    Ann Hum Genet 71:729-34. 2007
    ..The 669insA mutation in exon 4 of the BSCL2 gene was identified as the major genetic alteration leading to BSCL in a group of 22 patients from the ..
  67. ncbi Phenotype of Charcot-Marie-Tooth disease Type 2
    H M E Bienfait
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 68:1658-67. 2007
    ..To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families...
  68. 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...
  69. ncbi The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome
    G C DeLuca
    University Dept of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Woodstock Rd, Oxford, OX2 6LE, UK
    J Neurol 254:1221-6. 2007
    ..the pathogenesis of HSP (Paraplegin, NIPA1, KIF5A, HSPD1, Atlastin, Spartin, Spastin, PLP1, L1CAM, Maspardin and BSCL2) play a role in susceptibility to, or modifying the course of, MS, although small effects of these genes cannot be ..
  70. ncbi Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism
    Robert A Hegele
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    J Lipid Res 48:1433-44. 2007
    ..1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B...
  71. ncbi Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
    Barbara Rohkamm
    Institute of Human Genetics, Medical University Graz, Austria
    J Neurol Sci 263:100-6. 2007
    ..overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes...
  72. 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 ..
  73. ncbi 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...
  74. ncbi 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
    ..multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14...

Research Grants36

  1. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2010
    ..Furthermore, the biological function of BSCL2-encoded protein, seipin, still remains unknown and thus how BSCL2 mutations cause lipodystrophy remains puzzling...
  2. A Simple Cellular Model for Lipodystrophy
    Joel M Goodman; Fiscal Year: 2010
    ..We will study the function of the genes involved in lipodystrophy, particularly seipin, mutations in which cause severe human disease...
  3. A Simple Cellular Model for Lipodystrophy
    Joel M Goodman; Fiscal Year: 2010
    ..We will study the function of the genes involved in lipodystrophy, particularly seipin, mutations in which cause severe human disease...
  4. A Simple Cellular Model for Lipodystrophy
    Joel Goodman; Fiscal Year: 2009
    ..We will study the function of the genes involved in lipodystrophy, particularly seipin, mutations in which cause severe human disease...
  5. Phase II study of cholic acid for hepatic steatosis in *
    Abhimanyu Garg; Fiscal Year: 2007
    ..The effectiveness of cholic acid in reducing hepatic steatosis in humans remains unknown. ..
  6. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2007
    ..Furthermore, the biological function of BSCL2-encoded protein, seipin, still remains unknown and thus how BSCL2 mutations cause lipodystrophy remains puzzling...
  7. Novel Therapies for Metabolic Complications in Patients with Lipodystrophies
    Abhimanyu Garg; Fiscal Year: 2007
    ..Additionally, the findings may be applicable to treating metabolic complications in patients with obesity and type 2 diabetes. ..
  8. 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. ..
  9. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2009
    ..Furthermore, the biological function of BSCL2-encoded protein, seipin, still remains unknown and thus how BSCL2 mutations cause lipodystrophy remains puzzling...
  10. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2010
    ..Furthermore, the biological function of BSCL2-encoded protein, seipin, still remains unknown and thus how BSCL2 mutations cause lipodystrophy remains puzzling...
  11. 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. ..
  12. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2002
    ..abstract_text> ..
  13. 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. ..
  14. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2006
    ..receptor-g (PPARG) genes and CGL due to mutations in 1- acylglycerol-3-phosphate O-acyltransferase 2 (AGPA T2) or Seipin genes on chromosome 9q34 and 11q13, respectively...