Genomes and Genes
Gene Symbol: BSCL2
Description: BSCL2, seipin lipid droplet biogenesis associated
Alias: GNG3LG, HMN5, PELD, SPG17, seipin, Berardinelli-Seip congenital lipodystrophy 2 (seipin), Bernardinelli-Seip congenital lipodystrophy type 2 protein
Publications143 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..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.
- 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..BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function...
- 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..O-acyltransferase 2 (AGPAT2) gene in CGL pedigrees linked to chromosome 9q34 (CGL1 subtype), and mutations in the Seipin gene were reported in pedigrees linked to chromosome 11q13 (CGL2 subtype)...
- 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..Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #..
- 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..Recently, seipin, encoding a 398-amino acid protein of unknown function, and AGPAT2, encoding 1-acyl-sn-glycerol-3-phosphate ..
- 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...
- 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..Interestingly, the expression of human seipin, whose mutant forms are associated with Berardinelli-Seip congenital lipodystrophy and motoneuron disorders, ..
- 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...
- 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. 2008b>Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases...
- 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)...
- 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...
- 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..In most cases, BSCL is due to loss-of-function mutations in the genes encoding either seipin of unknown function or 1-acyl-glycerol-3-phosphate O-acyltransferase 2 (AGPAT2) which catalyses the formation of ..
- 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. 2009..BSCL2 encodes a protein called seipin, whose function is largely unknown...
- 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 '..
- 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. 2011The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin has been implicated in adipocyte differentiation, lipid droplet (LD) formation, and motor neuron development...
- 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...
- 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...
- 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..16 consanguineous pedigrees living in the northeastern region of Brazil had a homozygous 669insA mutation in the Seipin gene (BSCL2 locus), while all of the 10 investigated subjects from the southeastern region were homozygous for a ..
- 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...
- 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. 2007..BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome...
- 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...
- 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 ..
- 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. 2008..type V is underlined by the recent discovery of causative mutation in BSCL2 gene coding for a protein termed seipin, an integral membrane protein of endoplasmic reticulum, with unknown function...
- 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..In these four subjects, sequencing of other known genes implicated in lipodystrophies, i.e. AGPAT2, Seipin, and PPARG also revealed no substantial alterations...
- Human lipodystrophies: genetic and acquired diseases of adipose tissueJacqueline Capeau
INSERM, U938, CdR Saint Antoine, Paris, France
Endocr Dev 19:1-20. 2010..recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2(AGPAT2)...
- 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..of the lamin A/C gene, and the congenital generalized lipodystrophy, linked to alterations in the protein seipin. However, their physiopathology remains mysterious...
- Phenotypic and genetic heterogeneity in congenital generalized lipodystrophyAnil K Agarwal
Department of Internal Medicine, Division of Nutrition and Metabolic Diseases and Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
J Clin Endocrinol Metab 88:4840-7. 2003..in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were reported in pedigrees linked to chromosomes 9q34 and 11q13, respectively...
- Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of BrazilKarina Braga Gomes
Department of Human Genetics, Instituto de Patologia Clinica Hermes Pardini, Belo Horizonte, Minas Gerais, 30140 070 Brazil
J Clin Endocrinol Metab 89:357-61. 2004..In this study, we investigated the presence of mutations in the Seipin and 1-acylglycerol phosphate acyltransferase 2 (AGPAT2) genes in 32 affected subjects with BSCL from 17 ..
- Membrane topology of the human seipin proteinCarolina Lundin
Department of Biochemistry and Biophysics, Stockholm University, SE 10691 Stockholm, Sweden
FEBS Lett 580:2281-4. 2006The Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene encodes an integral membrane protein, called seipin, of unknown function localized to the endoplasmic reticulum of eukaryotic cells...
- The molecular genetics of non-ALS motor neuron diseasesPaul A James
Department of Physiology, Anatomy and Genetics, Oxford University, Oxford, UK
Biochim Biophys Acta 1762:986-1000. 2006..Neuron (Spastin, Atlastin, Paraplegin, HSP60, KIF5A, NIPA1) or mixed ALS-like phenotypes (Alsin, Senataxin, VAPB, BSCL2)...
- Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicityCorinne Vigouroux
INSERM UMR_S938, Centre de Recherche Saint Antoine, Paris, France
Int J Biochem Cell Biol 43:862-76. 2011..synthesis towards the lipid droplet (1-acylglycerol-3-phosphate-O-acyltransferase 2), or its functions (seipin, cell death-inducing DFF45-like effector C, perilipin, caveolin-1, cavin-1)...
- Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generationsMarios Panas
Neurogenetics Unit, Department of Neurology, Eginition Hospital, University of Athens, Athens, Greece
Neurologist 17:211-2. 2011..In addition to the previously identified locus SPG17 on chromosome 11q12-q14, a new locus (SPG38) on chromosome 4p16-p15 has been recently identified, a region that ..
- Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brainAlastair S Garfield
Department of Pharmacology, University of Cambridge, Cambridge, United Kingdom
PLoS ONE 7:e45790. 2012The endoplasmic reticulum localised protein seipin, encoded by the gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), serves a critical but poorly defined function in the physiology of both adipose and neural tissue...
- Seipin promotes adipose tissue fat storage through the ER Ca²⁺-ATPase SERCAJunfeng Bi
State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China University of Chinese Academy of Sciences, Beijing 100049, China
Cell Metab 19:861-71. 2014..lipodystrophy type 2 (BSCL2), one of the most severe lipodystrophy diseases, is caused by mutation of the Seipin gene...
- Towards a mechanistic understanding of lipodystrophy and seipin functionsKenneth Wee
Singapore Bioimaging Consortium, Agency for Science, Technology and Research A STAR, Singapore
Biosci Rep 34:. 2014..four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss of both metabolic and mechanical adipose depots...
- Clinical and electrophysiological features in a French family presenting with seipinopathyYolaine Ollivier
Centre de référence Maladies Neuromusculaires Nantes Angers, CHU de Nantes, Nantes, France
Neuromuscul Disord 25:161-4. 2015..affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene...
- Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphologyBethany R Cartwright
Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX 75235 9041
Mol Biol Cell 26:726-39. 2015b>Seipin is necessary for both adipogenesis and lipid droplet (LD) organization in nonadipose tissues; however, its molecular function is incompletely understood...
- Expression of seipin in adipose tissue rescues lipodystrophy, hepatic steatosis and insulin resistance in seipin null miceMingming Gao
Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Peking University Health Science Center, Beijing, 100191, China
Biochem Biophys Res Commun 460:143-50. 2015Gene mutations in an ER protein seipin result in congenital generalized lipodystrophy (CGL) in humans, accompanied with hepatic steatosis and insulin resistance. Seipin gene is highly expressed in the brain, testis and adipose tissue...
- Dysfunction of lipid metabolism in lipodystrophic Seipin-deficient miceMengyu Wang
Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Peking University Health Science Center, Beijing 100191, China
Biochem Biophys Res Commun 461:206-10. 2015..However, the mechanisms of dyslipidemia and hepatic steatosis are unclear. Here using the lipodystrophic Seipin-deficient mouse (Seipin(-/-)) model, we found Seipin(-/-) mice were unable to respond appropriately to a long time ..
- Arabidopsis SEIPIN Proteins Modulate Triacylglycerol Accumulation and Influence Lipid Droplet ProliferationYingqi Cai
Department of Biological Sciences, Center for Plant Lipid Research, University of North Texas, Denton, Texas 76203
Plant Cell 27:2616-36. 2015The lipodystrophy protein SEIPIN is important for lipid droplet (LD) biogenesis in human and yeast cells...
- Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathyCheng Tsung Hsiao
Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
PLoS ONE 11:e0147677. 2016A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan.
- Expression of genes involved in lipid droplet formation (BSCL2, SNAP23 and COPA) during porcine in vitro adipogenesisBeata Kociucka
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60 637, Poznan, Poland
J Appl Genet 57:505-510. 2016..In the present study, expression of three genes involved in lipid droplet formation (SNAP23, BSCL2 and COPA) was evaluated during porcine adipogenesis...
- Seinpin knockout exacerbates cerebral ischemia/reperfusion damage in miceYong Chen
Department of Neurology, People s Hospital of Deyang City, Taishian North Road 173, Deyang City, 618000, China
Biochem Biophys Res Commun 474:377-83. 2016b>Seipin, which regulates adipocyte differentiation and lipolysis, inducing severe lipodystrophy and metabolic syndromes, is also highly expressed in the nervous system and affects some neurological diseases...
- Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regenerationKavitha Rao
Biochemistry and Molecular Biology and Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA 16802
Mol Biol Cell 27:3245-3256. 2016..Axon regeneration was similarly impaired in neurons when HSP proteins atlastin, seipin, and spichthyin were reduced...
- Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature reviewRoberta Opri
University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, Piazzale L A Scuro 10, 37134 Verona, Italy Electronic address
Seizure 42:1-6. 2016A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported...
- Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulationBenoît Renvoisé
Cell Biology Section, Neurogenetics Branch
Hum Mol Genet . 2016..lipodystrophy is caused by autosomal recessive mutations in the BSCL2 gene that encodes an ER protein, seipin, that is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome)...
- ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegiaThomas Musacchio
Department of Neurology, University Hospital Wurzburg, Wurzburg, Germany
J Neurol 264:11-20. 2017Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP)...
- SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate AcyltransferaseMartin Pagac
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia
Cell Rep 17:1546-1559. 2016Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) is caused by loss-of-function mutations in SEIPIN, a protein implicated in both adipogenesis and lipid droplet expansion but whose molecular function remains obscure...
- [Hereditary distal motor neuropathy due to mutation of BSCL2]M Rafael
Centro Hospitalar Barreiro Montijo, Barreiro, Portugal
Rev Neurol 64:45-47. 2017Neuropatia hereditaria motora distal por mutacion en BSCL2.
- 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 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...
- 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..and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear)...
- [Congenital generalized lipodystrophy: a case report with neurological involvement]H Ben Turkia
Service de Pediatrie, Hopital La Rabta, Jebbari, Tunis, Tunisie
Arch Pediatr 16:27-31. 2009..At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance...
- 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...
- 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: 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 is a homo-oligomeric integral membrane protein in the endoplasmic reticulum that concentrates at junctions with cytoplasmic ..
- 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..The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome ..
- 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. 2013b>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...
- 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..We analysed the relationship between HCV and seipin, a protein involved in lipid droplet maturation...
- 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. 2014Gain-of-toxic-function mutations in Seipin (Asparagine 88 to Serine (N88S) and Serine 90 to Leucine (S90L) mutations, both of which disrupt the N-glycosylation) cause autosomal dominant motor neuron diseases...
- 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. 2014The human congenital generalized lipodystrophy type 2 protein seipin (Fld1 in budding yeast) controls lipid droplet (LD) size through an unknown mechanism...
- 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...
- 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....
- 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. 2015..Bscl2-encoded seipin is detected in adipocytes and epithelium of mammary gland...
- 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. ..
- 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. 2015b>Seipin is a protein that resides in endoplasmic reticulum, and involved in both lipid metabolic disorders and motor neuropathy...
- 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. 2015b>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)...
- 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...
- 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. 2015Yeast Fld1 and Ldb16 resemble mammalian seipin, implicated in neutral lipid storage. Both proteins form a complex at the endoplasmic reticulum-lipid droplet (LD) interface...
- [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...
- 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)...
- 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...
- 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..the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed...
- 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)...
- 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. 2011..Here, we create the first murine model of BSCL2 by targeted disruption of seipin, the causative gene for BSCL2...
- 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...
- 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. 2012..BSCL2 is caused by loss-of-function mutations in the BSCL2/seipin gene, which encodes seipin...
- 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...
- 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...
- 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...
- [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...
- 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..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. 2013Heterozygosity for missense mutations in Seipin, namely N88S and S90L, leads to a broad spectrum of motor neuropathy, while a number of loss-of-function mutations in Seipin are associated with the Berardinelli-Seip congenital generalized ..
- 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...
- 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..mutations in AGPAT2, encoding 1-acyl-glycerol-3-phosphate-acyltransferase 2 (CGL1; MIM 608594), BSCL2, encoding seipin (CGL2; MIM 269700), CAV1, encoding caveolin1 (CGL3; MIM 612526) or PTRF, encoding polymerase I and transcript ..
- 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...
- 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.
- 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. 2014b>Seipin regulates lipid homeostasis by preventing lipid droplet (LD) formation in non-adipocytes but promoting it in developing adipocytes. Here, we report that seipin interacts with 14-3-3β through its N- and C-termini...
- 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...
- 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)...
- Heterogeneity for congenital generalized lipodystrophy in seventeen patients from OmanAnna Rajab
Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
Am J Med Genet 110:219-25. 2002..Molecular analysis of these cases showed homozygosity at the BSCL2 locus on chromosome 11q13 in four of the seven cases...
- 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 Middle Eastern families...
- Joel M Goodman; Fiscal Year: 2016..The most severe form of lipodystrophy is the fault of mutations in the gene that encodes seipin. Considering the negative outcomes and the costs associated with poor fat storage, it is surprising that there are ..
- 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. ..
- 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]..
- Lipoprotein Metabolism 2008 Gordon Research ConferenceRobert Hegele; Fiscal Year: 2008..End of Abstract) [unreadable] [unreadable] [unreadable]..
- 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. ..
- International Symposium for Hereditary Spastic ParaplegiaJohn Fink; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Hereditary Spastic Paraplegia due to SPG3A/atlastin mutationJohn Fink; Fiscal Year: 2009....
- HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,John Fink; Fiscal Year: 2001..abstract_text> ..
- Primers for synthesizing full length cDNA clones and their usePatent Number: EP1396543-A2; Date:2004-03-10