BSCL2

Summary

Gene Symbol: BSCL2
Description: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Alias: GNG3LG, HMN5, PELD, SPG17, 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. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Scientific Experts

Detail Information

Publications119 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
    ..most severe inherited form is Berardinelli-Seip Congenital Lipodystrophy Type 2, associated with mutations in the BSCL2 gene. 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. 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...
  6. 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...
  7. 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)...
  8. 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
    Mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2) are the underlying defect in patients with congenital generalized lipodystrophy type 2. BSCL2 encodes a protein called seipin, whose function is largely unknown...
  9. 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
    ..We did not find any AGPAT2 mutations in our Japanese patients, suggesting that AGPAT2 is a minor causative gene, if any, for CGL in Japanese. This is the first report on gene and phenotype analysis of CGL in Japanese...
  10. 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
    Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases...
  11. 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
    ..We conclude that CGL patients with Seipin mutations have a more severe lack of body fat, which affects both metabolically active and mechanical adipose tissue, compared with patients with mutations in the AGPAT2 gene...
  12. 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
    ..Our results provide important insights into the biochemical characteristics of seipin and its mis-sense mutants, and suggest that seipin may function to inhibit lipogenesis...
  13. 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
    ..These findings provide new insights into how seipin deficiency causes severe lipodystrophy...
  14. 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
    ..These results suggest that an evolutionally conserved function of seipin in phospholipid metabolism and LD formation may be functionally important in human adipogenesis...
  15. 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...
  16. 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
    ..After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L...
  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. 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...
  19. 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
    ..mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families...
  20. 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...
  21. 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...
  22. 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
    ..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 1036 bp ..
  23. 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 ..
  24. 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
    Mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome...
  25. 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...
  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
    Silver syndrome (SPG17) is a rare form of hereditary spastic paraparesis...
  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
    ..e. AGPAT2, Seipin, and PPARG also revealed no substantial alterations. We conclude that MAD is a genetically and phenotypically heterogeneous disorder. Besides LMNA gene, other as yet unmapped loci could be linked to MAD...
  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
    ..Treatment of fat redistribution can sometimes benefit from plastic surgery. Lipid and glucose alterations are difficult to control leading to early occurrence of diabetic, cardiovascular and hepatic complications...
  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
    ....
  32. 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...
  33. 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
    ..The aim of this study was to investigate the effects of mutant seipin on autophagy system and the morphology of lipid droplets in vitro...
  34. 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...
  35. 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...
  36. 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
    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)...
  37. 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
    ..We propose that human seipin might adopt the architecture of the yeast Fld1-Ldb16 complex in order to properly maintain the size of LDs...
  38. 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
    ..We suggest that the formation of SLD is a consequence of locally altered PL metabolism at this site. ..
  39. 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
    ..Peripheral hypertonia and reflex excitability revealed signal abnormalities in white matter on magnetic resonance imagery, which has not been described previously in the literature...
  40. 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...
  41. 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
    ..These results suggest that the available outer surface of lipid droplets is a critical factor for HCV release, independent of the neutral lipid content of the cell. ..
  42. 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
    ..of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear)...
  43. 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
    ....
  44. 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...
  45. 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
    ..These data demonstrate that Seipin-N88S mutation impairs synaptic neurotransmission, possibly by regulating the priming and docking of synaptic vesicles at the synapse...
  46. 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...
  47. 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. ..
  48. 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...
  49. 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
  50. 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
    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...
  51. 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
    Berardinelli-Seip congenital lipodystrophy 2-deficient (Bscl2(-/-)) mice recapitulate human BSCL2 disease with lipodystrophy. Bscl2-encoded seipin is detected in adipocytes and epithelium of mammary gland...
  52. 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
    ..Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders...
  53. 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...
  54. 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)...
  55. 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)...
  56. 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
    ..syndrome, the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed...
  57. 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...
  58. doi BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling
    Wulin Yang
    Singapore Bioimaging Consortium
    Hum Mol Genet 23:502-13. 2014
    ..Finally, 3T3-L1 cells expressing a severing-resistant actin mutant exhibited impaired adipogenesis. We propose that seipin regulates adipogenesis by recruiting cofilin-1 to remodel actin cytoskeleton through the 14-3-3β protein...
  59. 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...
  60. 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...
  61. 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...
  62. 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)...
  63. 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...
  64. 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...
  65. 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
    Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is an autosomal recessive disorder characterized by an almost complete loss of adipose tissue, insulin resistance and fatty liver...
  66. 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...
  67. 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...
  68. 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
    Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder characterized by an almost complete loss of adipose tissue, insulin resistance, and fatty liver...
  69. 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.
  70. 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...
  71. 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
    ..CGL) results from 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 ..
  72. 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
    ..regulation 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 ..
  73. 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
    ..mutations in Seipin are associated with the Berardinelli-Seip congenital generalized lipodystrophy type 2 (CGL2, BSCL2), a condition that is characterized by severe lipoatrophy, insulin resistance, and intellectual impairment...
  74. 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
    ..In summary, our results provide important insights into how the size of LDs is determined and identify novel gene products that regulate phospholipid metabolism...
  75. 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...
  76. 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)...
  77. 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 ..
  78. 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 ..
  79. 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 (..
  80. 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
    ..form of human lipodystrophy, Berardinelli-Seip Congenital Lipodystrophy 2, which is caused by mutations in the BSCL2/Seipin gene...
  81. 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...
  82. 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...
  83. 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 ..
  84. 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...
  85. 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 ..
  86. 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
    ....
  87. ncbi [Primary lipodystrophies]
    J Capeau
    INSERM, U680, 75012 Paris, France
    Ann Endocrinol (Paris) 68:10-20. 2007
    ..or Berardinelli-Seip 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...
  88. 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
    ..Acquired forms are common and regroup the highly prevalent Metabolic Syndrome, hypercorticism together with lipodystrophy related to antiretroviral treatment of HIV-infected patients...
  89. 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...
  90. 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
    ..Such syndromes help to understand the mechanisms involved in insulin resistance resulting from altered fat repartition and could benefit from insulin-sensitizing effects of lifestyle modifications or of specific medications...
  91. 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)...
  92. 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...
  93. 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
    ..in 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...
  94. 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
    ..which 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...
  95. 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
    ..Because we found mutations in 92 of the 94 BSCL patients studied, the seipin gene and AGPAT2 are the two major genes involved in the etiology of BSCL...
  96. 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
    ..Radiation hybrid analysis localized the seipin gene (Bscl2) in rat to a major quantitative trait locus in rat chromosome 1 linked to glucose intolerance in the Goto-Kakizaki ..
  97. 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 ..
  98. 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 of phosphatidic acid...
  99. 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...

Research Grants11

  1. A Simple Cellular Model for Lipodystrophy
    Joel M Goodman; Fiscal Year: 2013
    ..Overall, our proposed work will increase our understanding of droplet assembly, the basis of obesity and lipodystrophy, at its most basic level. ..
  2. 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. ..
  3. 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. ..
  4. 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. ..
  5. Lipoprotein Metabolism 2008 Gordon Research Conference
    Robert Hegele; Fiscal Year: 2008
    ..End of Abstract) [unreadable] [unreadable] [unreadable]..
  6. 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]..
  7. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009
    ....
  8. International Symposium for Hereditary Spastic Paraplegia
    John Fink; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  9. HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,
    John Fink; Fiscal Year: 2001
    ..abstract_text> ..