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. 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. doi 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. 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
  5. doi 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 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
  7. 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
  8. 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
  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. 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

Scientific Experts

Detail Information

Publications98

  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. doi 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. 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...
  5. doi 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 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 #..
  7. 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 '..
  8. 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...
  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. 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...
  11. 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...
  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 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)...
  14. 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...
  15. 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...
  16. 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...
  17. doi 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. 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.
  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. 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...
  21. 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...
  22. 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)...
  23. 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...
  24. 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...
  25. 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
    ..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 ..
  26. 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)...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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.
  32. 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...
  33. 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 ..
  34. 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...
  35. 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...
  36. 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 ..
  37. 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)...
  38. 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...
  39. 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 ..
  40. 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...
  41. 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...
  42. 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...
  43. 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...
  44. 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...
  45. doi 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.
  46. 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 ..
  47. doi 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
    ....
  48. doi 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 ..
  49. pmc 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...
  50. doi 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 ..
  51. doi 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 ..
  52. doi 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)...
  53. doi 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 (..
  54. 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...
  55. 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)...
  56. pmc 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 ..
  57. doi 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 ..
  58. pmc 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...
  59. doi 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...
  60. pmc 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...
  61. 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...
  62. 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...
  63. 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 ..
  64. 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...
  65. 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...
  66. 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...
  67. 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...
  68. 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...
  69. 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)...
  70. pmc 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...
  71. 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)...
  72. 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...
  73. 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...
  74. 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...
  75. 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...
  76. 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...
  77. 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 ..
  78. 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...
  79. pmc 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...
  80. 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...
  81. doi 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...
  82. 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...
  83. 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...
  84. doi 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...
  85. doi 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 ..
  86. 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, ..
  87. pmc 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...
  88. 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...
  89. 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...
  90. doi 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)...
  91. 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...
  92. 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...
  93. 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 ..
  94. 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...
  95. pmc 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...

Research Grants57

  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. 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...
  6. 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. ..
  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. 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. ..
  10. GENETIC AND METABOLIC BASIS OF FAMILIAL LIPODYSTROPHIES
    Abhimanyu Garg; Fiscal Year: 2002
    ..abstract_text> ..
  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: 2010
    ..Furthermore, the biological function of BSCL2-encoded protein, seipin, still remains unknown and thus how BSCL2 mutations cause lipodystrophy remains puzzling...
  13. 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...
  14. 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...
  15. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2007
    ....
  16. International Symposium for Hereditary Spastic Paraplegia
    John Fink; Fiscal Year: 2007
    ....
  17. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009
    ....
  18. Paroxysmal dystonic choreoathetosis
    John Fink; Fiscal Year: 2003
    ..abstract_text> ..
  19. HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,
    John Fink; Fiscal Year: 2001
    ..abstract_text> ..