Genomes and Genes
Gene Symbol: BSCL2
Description: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Alias: GNG3LG, HMN5, PELD, SPG17, Bernardinelli-Seip congenital lipodystrophy type 2 protein
Publications119 found, 100 shown here
- Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effectsMao Fu
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 89:2916-22. 2004Congenital 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...
- The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphologyKimberly 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...
- 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...
- N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndromeV 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. 2010Distal 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.
- Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2B 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...
- Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndromeDebora 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...
- Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 geneH 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)...
- The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiationWeiqin 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. 2009Mutations 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...
- Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin geneKen 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...
- Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17Daisuke Ito
Department of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
Neurobiol Dis 31:266-77. 2008Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases...
- Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genesVinaya 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...
- Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesisWeihua 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...
- Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophyEmilie 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...
- Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeastWeihua 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...
- The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiationVictoria A Payne
University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
Diabetes 57:2055-60. 2008Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue...
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian 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...
- N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stressTakuya Yagi
Department of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
Hum Mol Genet 20:3831-40. 2011Heterozygosity 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 ..
- Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutationMichaela 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...
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J 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...
- Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutationsAtsushi 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...
- Molecular pathogenesis of seipin/BSCL2-related motor neuron diseasesDaisuke Ito
Department of Neurology, School of Medicine, Keio University, Shinjuku ku, Tokyo, Japan
Ann Neurol 61:237-50. 2007Heterozygous 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...
- Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patientsK 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 ..
- Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signsM Luigetti
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
Muscle Nerve 42:448-51. 2010Heterozygous 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 ..
- Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathyHyun 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. 2007Mutations 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...
- The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeH 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...
- BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathyBart 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. 2006Mutations 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)...
- The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutationGianfranco Cafforio
Department of Neuroscience O U of Neurology, S Chiara Hospital, University of Pisa, Pisa, Italy
Neurol Sci 29:189-91. 2008Silver syndrome (SPG17) is a rare form of hereditary spastic paraparesis...
- Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophyVinaya 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...
- Human lipodystrophies: genetic and acquired diseases of adipose tissueJacqueline 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...
- A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegiaGuo 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...
- [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....
- Seipin: from human disease to molecular mechanismBethany R Cartwright
Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9041, USA
J Lipid Res 53:1042-55. 2012The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations in BSCL2/seipin...
- Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generationHua 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...
- Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animalsHongyi Zhou
Department of Physiology, Georgia Regents University, Augusta, GA 30912
J Lipid Res 56:1912-25. 2015Mutations in BSCL2/SEIPIN cause Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), but the mechanisms whereby Bscl2 regulates adipose tissue function are unclear...
- Analyzing the functions and structure of the human lipodystrophy protein seipinM F Michelle Sim
Institute of Metabolic Science, Addenbrooke s Hospital, University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom
Methods Enzymol 537:161-75. 2014Disruption of the gene BSCL2, which encodes the protein seipin, causes severe generalized lipodystrophy in humans with a near complete absence of adipose tissue...
- Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesisChihiro Ebihara
Department of Medicine and Clinical Science
Hum Mol Genet 24:4238-49. 2015Seipin, 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)...
- Control of lipid droplet size in budding yeast requires the collaboration between Fld1 and Ldb16Chao 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...
- Seipin is involved in the regulation of phosphatidic acid metabolism at a subdomain of the nuclear envelope in yeastHeimo 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. ..
- [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...
- [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...
- Role of seipin in lipid droplet morphology and hepatitis C virus life cycleSophie 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. ..
- Genetic disorders of adipose tissue development, differentiation, and deathAnil 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)...
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophyJens Schuster
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala, Sweden
BMC Med Genet 15:71. 2014....
- Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutationsSavitha 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...
- Motor neuropathy-associated mutation impairs Seipin functions in neurotransmissionShunhui 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...
- A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegiaThomas 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...
- BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literatureZhidong 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. ..
- Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiationWeiqin Chen
Address correspondence to Lawrence Chan
Mol Cell Biol 32:1099-111. 2012Mutations 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...
- Seipin: a mysterious proteinAnil 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
- A new seipin-associated neurodegenerative syndromeEncarna 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. 2013Seipin/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...
- Segregated responses of mammary gland development and vaginal opening to prepubertal genistein exposure in Bscl2(-/-) female mice with lipodystrophyRong 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. 2015Berardinelli-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...
- How to diagnose a lipodystrophy syndromeMarie 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...
- Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiencyBarbara 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...
- Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literatureBeate 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)...
- [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. 2007In 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)...
- Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndromeCaterina 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...
- Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanismsM F Michelle Sim
University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
Diabetologia 56:2498-506. 2013In humans, disruption of the gene BSCL2, encoding the protein seipin, causes congenital generalised lipodystrophy (CGL) with severe insulin resistance and dyslipidaemia...
- BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodellingWulin 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...
- Alleviation of seipinopathy-related ER stress by triglyceride storageMaarit Hölttä-Vuori
Institute of Biomedicine, Anatomy, University of Helsinki, 00014 Helsinki, Finland
Hum Mol Genet 22:1157-66. 2013Mutations affecting the N-glycosylation site in Berardinelli-Seip lipodystrophy (BSCL)-associated gene BSCL2/seipin lead to a dominantly inherited spastic paraplegia termed seipinopathy...
- Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient miceWeiqin Chen
Department of Physiology, Medical College of Georgia at Georgia Regents University, Augusta, Georgia, United States of America
PLoS ONE 8:e82526. 2013Mutations 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...
- A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesClaudia 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...
- The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy 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)...
- Clinical review#: Lipodystrophies: genetic and acquired body fat disordersAbhimanyu 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...
- Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndromeMaria 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...
- Seipin ablation in mice results in severe generalized lipodystrophyXin 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. 2011Berardinelli-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...
- Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report seriesManuela 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...
- [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...
- Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophyXin Cui
School of Biotechnology and Biomolecular Sciences, Univ of New South Wales, Sydney, Australia
Am J Physiol Endocrinol Metab 302:E705-13. 2012Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder characterized by an almost complete loss of adipose tissue, insulin resistance, and fatty liver...
- Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani familyObaid 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.
- Motor neuron degeneration in a mouse model of seipinopathyJ Guo
Laboratory of Metabolic Medicine, Singapore Bioimaging Consortium, Agency for Science, Technology and Research A STAR, Singapore, Singapore
Cell Death Dis 4:e535. 2013Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip congenital lipodystrophy type 2)/Seipin is associated with a broad spectrum of motoneuron diseases...
- A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial DysfunctionEllen 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 ..
- 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 spectroscopyXin 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 ..
- Seipin regulates excitatory synaptic transmission in cortical neuronsShunhui 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...
- A role for phosphatidic acid in the formation of "supersized" lipid dropletsWeihua 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...
- Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studiesA 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...
- Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lgG 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)...
- The ToxTracker assay: novel GFP reporter systems that provide mechanistic insight into the genotoxic properties of chemicalsGiel 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 ..
- A role for seipin in lipid droplet dynamics and inheritance in yeastHeimo 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 ..
- The distal hereditary motor neuropathiesAlexander 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 (..
- Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formationYuan 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...
- Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndromeMishthu 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...
- Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitusJing 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...
- Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from BrazilK 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 ..
- Phenotype of Charcot-Marie-Tooth disease Type 2H 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...
- The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcomeG 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 ..
- Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolismRobert 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....
- [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...
- [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...
- Berardinelli-Seip congenital lipodystrophyKausik 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...
- Diseases of adipose tissue: genetic and acquired lipodystrophiesJ 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...
- Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblingsM 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)...
- Mice with deficiency of G protein gamma3 are lean and have seizuresWilliam 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...
- Genetic basis of congenital generalized lipodystrophyA 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...
- Monogenic forms of insulin resistance: apertures that expose the common metabolic syndromeRobert 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...
- Prevalence of mutations in AGPAT2 among human lipodystrophiesJocelyne 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...
- Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitusP 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 ..
- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL 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 ..
- Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophyC 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...
- [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...
- A Simple Cellular Model for LipodystrophyJoel 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. ..
- Novel Therapies for Metabolic Complications in Patients with LipodystrophiesAbhimanyu Garg; Fiscal Year: 2010..Additionally, the findings may be applicable to treating metabolic complications in patients with obesity and type 2 diabetes. ..
- MECHANISMS OF LIPODYSTROPHY IN HIV INFECTED PATIENTSAbhimanyu Garg; Fiscal Year: 2002..Additionally, the study may prove effectiveness and reduced toxicity of alternative antiretroviral regimens without a PI. ..
- Therapeutic Approaches to HAART-Induced LipodystrophyAbhimanyu Garg; Fiscal Year: 2006..Additionally, the study may help prevent these problems in HIV-infected patients being initiated on PI-containing HAART. ..
- Lipoprotein Metabolism 2008 Gordon Research ConferenceRobert Hegele; Fiscal Year: 2008..End of Abstract) [unreadable] [unreadable] [unreadable]..
- 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]..
- Hereditary Spastic Paraplegia due to SPG3A/atlastin mutationJohn Fink; Fiscal Year: 2009....
- International Symposium for Hereditary Spastic ParaplegiaJohn Fink; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,John Fink; Fiscal Year: 2001..abstract_text> ..