BSCL2

Summary

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
Species: human
Products:     BSCL2

Top Publications

  1. Fu M, Kazlauskaite R, Baracho M, Santos M, Brandao Neto J, Villares S, et al. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. J Clin Endocrinol Metab. 2004;89:2916-22 pubmed
    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. Szymanski K, Binns D, Bartz R, Grishin N, Li W, Agarwal A, et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A. 2007;104:20890-5 pubmed
    ..BSCL2 encodes seipin, the function of which has been entirely unknown...
  3. Chen B, Zheng R, Luan X, Zhang W, Wang Z, Yuan Y. Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2. Neuropathology. 2009;29:543-7 pubmed publisher
    ..is an autosomal dominant inherited distal motor neuropathy caused by Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene mutations...
  4. Brusse E, Majoor Krakauer D, de Graaf B, Visser G, Swagemakers S, Boon A, et al. A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?. Neurogenetics. 2009;10:289-97 pubmed publisher
    ..N88S) in BCLS2 (11q12-q14). All 12 affected relatives had the BSCL2 mutation and the chromosome 16p haplotype and showed features of motor neuron degeneration...
  5. Rakocevic Stojanovic V, Milic Rasic V, Peric S, Baets J, Timmerman V, Dierick I, et al. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. J Neurol Sci. 2010;296:107-9 pubmed publisher
    ..diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin. To report the first Serbian family with a BSCL2 mutation showing variable expression within the family...
  6. Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, et al. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. J Clin Endocrinol Metab. 2004;89:2360-4 pubmed
    ..Recently, seipin, encoding a 398-amino acid protein of unknown function, and AGPAT2, encoding 1-acyl-sn-glycerol-3-phosphate ..
  7. Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, et al. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci. 2008;29:189-91 pubmed publisher
    ..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...
  8. Yagi T, Ito D, Nihei Y, Ishihara T, Suzuki N. N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. Hum Mol Genet. 2011;20:3831-40 pubmed publisher
    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 '..
  9. Magre J, Delepine M, Khallouf E, Gedde Dahl T, Van Maldergem L, Sobel E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28:365-70 pubmed
    ..BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function...

More Information

Publications115 found, 100 shown here

  1. Auer Grumbach M, Schlotter Weigel B, Lochmuller H, Strobl Wildemann G, Auer Grumbach P, Fischer R, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005;57:415-24 pubmed
    ..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. ..
  2. Chen W, Yechoor V, Chang B, Li M, March K, Chan L. The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology. 2009;150:4552-61 pubmed publisher
    ..BSCL2 encodes a protein called seipin, whose function is largely unknown...
  3. Shirwalkar H, Patel Z, Magre J, Hilbert P, Van Maldergem L, Mukhopadhyay R, et al. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. J Inherit Metab Dis. 2008;31 Suppl 2:S317-22 pubmed publisher
    ..Mutations in BSCL2 are known to be associated with a severe form of CGL and mental retardation (MR)...
  4. Cartwright B, Goodman J. Seipin: from human disease to molecular mechanism. J Lipid Res. 2012;53:1042-55 pubmed publisher
    The 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 ..
  5. Cho H, Sung D, Ki C. Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. Muscle Nerve. 2007;36:384-6 pubmed
    ..BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome...
  6. Miranda D, Wajchenberg B, Calsolari M, Aguiar M, Silva J, Ribeiro M, et al. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clin Endocrinol (Oxf). 2009;71:512-7 pubmed publisher
    ..or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes...
  7. Windpassinger C, Auer Grumbach M, Irobi J, Patel H, Petek E, Hörl G, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004;36:271-6 pubmed
    ..Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #..
  8. van de Warrenburg B, Scheffer H, van Eijk J, Versteeg M, Kremer H, Zwarts M, et al. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord. 2006;16:122-5 pubmed
    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)...
  9. Fei W, Shui G, Gaeta B, Du X, Kuerschner L, Li P, et al. Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol. 2008;180:473-82 pubmed publisher
    ..Interestingly, the expression of human seipin, whose mutant forms are associated with Berardinelli-Seip congenital lipodystrophy and motoneuron disorders, ..
  10. Payne V, Grimsey N, Tuthill A, Virtue S, Gray S, Dalla Nora E, et al. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes. 2008;57:2055-60 pubmed publisher
    Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue...
  11. Boutet E, El Mourabit H, Prot M, Nemani M, Khallouf E, Colard O, et al. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie. 2009;91:796-803 pubmed publisher
    ..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 ..
  12. Fei W, Li H, Shui G, Kapterian T, Bielby C, Du X, et al. Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. J Lipid Res. 2011;52:2136-47 pubmed publisher
    The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin has been implicated in adipocyte differentiation, lipid droplet (LD) formation, and motor neuron development...
  13. Choi B, Park M, Chung K, Woo H, Koo H, Chung H, et al. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics. 2013;14:35-42 pubmed publisher
    ..S90W mutation in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene, after filtering 31 Korean control exomes. Our p...
  14. Patel H, Hart P, Warner T, Houlston R, Patton M, Jeffery S, et al. The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet. 2001;69:209-15 pubmed
    ..multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14...
  15. Simha V, Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab. 2003;88:5433-7 pubmed
    ..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)...
  16. Gomes K, Pardini V, Ferreira A, Fernandes A. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. J Inherit Metab Dis. 2005;28:1123-31 pubmed
    ..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 ..
  17. Nishiyama A, Yagi M, Awano H, Okizuka Y, Maeda T, Yoshida S, et al. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. Pediatr Int. 2009;51:775-9 pubmed publisher
    ..Recently, two genes, BSCL2 and AGPAT2, were identified as causative genes for CGL...
  18. Luigetti M, Fabrizi G, Madia F, Ferrarini M, Conte A, Delgrande A, et al. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. Muscle Nerve. 2010;42:448-51 pubmed publisher
    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 ..
  19. Ito D, Suzuki N. Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ann Neurol. 2007;61:237-50 pubmed
    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...
  20. Ito D, Fujisawa T, Iida H, Suzuki N. Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. Neurobiol Dis. 2008;31:266-77 pubmed publisher
    b>Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases...
  21. Cui X, Wang Y, Meng L, Fei W, Deng J, Xu G, et al. Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy. Am J Physiol Endocrinol Metab. 2012;302:E705-13 pubmed publisher
    ..BSCL2 is caused by loss-of-function mutations in the BSCL2/seipin gene, which encodes seipin...
  22. Garfield A, Chan W, Dennis R, Ito D, Heisler L, Rochford J. Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain. PLoS ONE. 2012;7:e45790 pubmed publisher
    The 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...
  23. Mori E, Fujikura J, Noguchi M, Nakao K, Matsubara M, Sone M, et al. Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations. Metabolism. 2016;65:543-56 pubmed publisher
    ..Mutation of the BSCL2/SEIPIN gene causes the most severe form of CGL...
  24. Romanauska A, Köhler A. The Inner Nuclear Membrane Is a Metabolically Active Territory that Generates Nuclear Lipid Droplets. Cell. 2018;174:700-715.e18 pubmed publisher
    ..involves the synthesis of nuclear lipid droplets from the INM and is characterized by lipid exchange through Seipin-dependent membrane bridges...
  25. Yan R, Qian H, Lukmantara I, Gao M, Du X, Yan N, et al. Human SEIPIN Binds Anionic Phospholipids. Dev Cell. 2018;47:248-256.e4 pubmed publisher
    ..b>SEIPIN, an integral membrane protein of the endoplasmic reticulum (ER), plays a critical role in both LD formation and ..
  26. Jelani M, Ahmed S, Almramhi M, Mohamoud H, Bakur K, Anshasi W, et al. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. Eur J Med Genet. 2015;58:216-21 pubmed publisher
    ..3, BSCL2 at 11q13, CAV1 at 7q31.1, and PTRF at 17q21.2...
  27. Wang S, Idrissi F, Hermansson M, Grippa A, Ejsing C, Carvalho P. Seipin and the membrane-shaping protein Pex30 cooperate in organelle budding from the endoplasmic reticulum. Nat Commun. 2018;9:2939 pubmed publisher
    ..unrelated organelles has remarkably similar requirements and involves cooperation between Pex30 and the seipin complex...
  28. Teboul Coré S, Rey Jouvin C, Miquel A, Vatier C, Capeau J, Robert J, et al. Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases. Skeletal Radiol. 2016;45:1495-506 pubmed publisher
    ..lipodystrophy (FPLD) and 10/22 congenital generalized lipodystrophy (CGL), 8 with AGPAT2-linked CGL1 and 2 with seipin-linked CGL2...
  29. Sánchez Iglesias S, Fernández Liste A, Guillín Amarelle C, Rabano A, Rodriguez Cañete L, González Méndez B, et al. Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies. Neuroscience. 2019;396:119-137 pubmed publisher
    b>Seipin is a widely expressed protein but with highest levels found in the brain and testes...
  30. Bhujel N, Clark H. Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. Eur Arch Paediatr Dent. 2016;17:137-40 pubmed publisher
    ..lipodystrophy (BSCL) is a very rare autosomal recessive condition caused by mutations of the AGPAT2 gene or the BSCL2 gene. BSCL is associated with a number of dental manifestations...
  31. McIlroy G, Suchacki K, Roelofs A, Yang W, Fu Y, Bai B, et al. Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease. Mol Metab. 2018;10:55-65 pubmed publisher
    Mutations to the BSCL2 gene disrupt the protein seipin and cause the most severe form of congenital generalised lipodystrophy (CGL)...
  32. Taurino M, Costantini S, De Domenico S, Stefanelli F, Ruano G, Delgadillo M, et al. SEIPIN Proteins Mediate Lipid Droplet Biogenesis to Promote Pollen Transmission and Reduce Seed Dormancy. Plant Physiol. 2018;176:1531-1546 pubmed publisher
    ..To gain insight into the function of LDs in plants, we have characterized the Arabidopsis homologs of SEIPIN proteins, which are crucial factors for LD biogenesis in yeast and animals...
  33. Gomes K, Pardini V, Ferreira A, Fonseca C, Fernandes A. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. Ann Hum Genet. 2007;71:729-34 pubmed
    ..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 ..
  34. Ding L, Yang X, Tian H, Liang J, Zhang F, Wang G, et al. Seipin regulates lipid homeostasis by ensuring calcium-dependent mitochondrial metabolism. EMBO J. 2018;37: pubmed publisher
    i>Seipin, the gene that causes Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), is important for adipocyte differentiation and lipid homeostasis...
  35. McIlroy G, Mitchell S, Han W, Delibegovic M, Rochford J. Female adipose tissue-specific Bscl2 knockout mice develop only moderate metabolic dysfunction when housed at thermoneutrality and fed a high-fat diet. Sci Rep. 2018;8:17863 pubmed publisher
    Mutations affecting the BSCL2 gene cause the most severe form of congenital generalised lipodystrophy. Affected individuals almost completely lack adipose tissue and suffer from severe diabetes and metabolic complications...
  36. Luigetti M, Fabrizi G, Bisogni G, Romano A, Taioli F, Ferrarini M, et al. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. Clin Neurol Neurosurg. 2016;144:67-71 pubmed publisher
    ..Extensive genetic evaluation showed 6 mutations in MFN2, 4 mutations in HSPB1, 2 mutations in BSCL2, 3 mutations in GJB1, 1 mutation in MPZ...
  37. Araujo Vilar D, Domingo Jimenez R, Ruibal A, Aguiar P, Ibáñez Micó S, Garrido Pumar M, et al. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy. Eur J Hum Genet. 2018;26:396-406 pubmed publisher
    ..It is caused by a c.985C>T variant in the BSCL2/seipin gene that results in an aberrant seipin protein...
  38. Musacchio T, Zaum A, Uceyler N, Sommer C, Pfeifroth N, Reiners K, et al. ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol. 2017;264:11-20 pubmed publisher
    Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP)...
  39. Liu Y, Li D, DING Y, Kang L, Jin Y, Song J, et al. Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. Eur J Med Genet. 2018;: pubmed publisher
    ..lipodystrophy (CGL) is a rare autosomal recessive disorder with two major subtypes, which are caused by AGPAT2 and BSCL2 mutations...
  40. Lima J, Nobrega L, Lima N, Dos Santos M, Baracho M, Bandeira F, et al. Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. J Clin Densitom. 2018;21:61-67 pubmed publisher
    ..90 SD, p = 0.022) and of bone mineral content (1.59 SD vs 3.3 SD, p = 0.032) than type 2 (seipin) patients...
  41. Rao K, Stone M, Weiner A, Gheres K, Zhou C, Deitcher D, et al. Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration. Mol Biol Cell. 2016;27:3245-3256 pubmed
    ..Axon regeneration was similarly impaired in neurons when HSP proteins atlastin, seipin, and spichthyin were reduced...
  42. Lu C, Li L, Dong H, Wei Q, Liu Z, Ni W, et al. Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. J Mol Med (Berl). 2018;96:701-712 pubmed publisher
    ..4%) are the most common in Chinese AD-HSP followed by ATL1 (4/39, 10.3%). Moreover, we identified the third BSCL2 mutation (c.1309G>C) related to HSP by further functional studies and first reported the KIF1A mutation (c...
  43. Buffet A, Lombes M, Caron P. [Genetics of congenital lipodystrophies]. Ann Endocrinol (Paris). 2015;76:S2-9 pubmed publisher
    ..Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms...
  44. Opri R, Fabrizi G, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, et al. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. Seizure. 2016;42:1-6 pubmed publisher
    A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported...
  45. Zhou H, Black S, Benson T, Weintraub N, Chen W. Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is Not Required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. Mol Cell Biol. 2016;36:2027-38 pubmed publisher
    ..Berardinelli-Seip congenital lipodystrophy (BSCL) type 2 (BSCL2; also known as seipin) is a lipodystrophy-associated endoplasmic reticulum membrane protein essential for white adipocyte ..
  46. Zhou L, Chen T, Li G, Wu C, Wang C, Li L, et al. Activation of PPARγ Ameliorates Spatial Cognitive Deficits through Restoring Expression of AMPA Receptors in Seipin Knock-Out Mice. J Neurosci. 2016;36:1242-53 pubmed publisher
    A characteristic phenotype of congenital generalized lipodystrophy 2 (CGL2) that is caused by loss-of-function of seipin gene is mental retardation...
  47. Wee K, Yang W, Sugii S, Han W. Towards a mechanistic understanding of lipodystrophy and seipin functions. Biosci Rep. 2014;34: pubmed publisher
    ..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...
  48. Ollivier Y, Magot A, Latour P, Perrier J, Mercier S, Maisonobe T, et al. Clinical and electrophysiological features in a French family presenting with seipinopathy. Neuromuscul Disord. 2015;25:161-4 pubmed publisher
    ..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...
  49. Li R, El Zowalaty A, Chen W, Dudley E, Ye X. Segregated responses of mammary gland development and vaginal opening to prepubertal genistein exposure in Bscl2(-/-) female mice with lipodystrophy. Reprod Toxicol. 2015;54:76-83 pubmed publisher
    ..Bscl2-encoded seipin is detected in adipocytes and epithelium of mammary gland...
  50. Wang M, Gao M, Liao J, Han Y, Wang Y, Liu G. Dysfunction of lipid metabolism in lipodystrophic Seipin-deficient mice. Biochem Biophys Res Commun. 2015;461:206-10 pubmed publisher
    ..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 ..
  51. de Lemos M, Peripolli E, Berton M, Feitosa F, Olivieri B, Stafuzza N, et al. Association study between copy number variation and beef fatty acid profile of Nellore cattle. J Appl Genet. 2018;59:203-223 pubmed publisher
    ..Olfactory receptor genes were associated with C12:0, C14:0, and C18:0 fatty acids. The SAMD8 and BSCL2 genes, both related to lipid metabolic process, were associated with C12:0...
  52. Zhou H, Lei X, Benson T, MINTZ J, Xu X, HARRIS R, et al. Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. J Lipid Res. 2015;56:1912-25 pubmed publisher
    Mutations in BSCL2/SEIPIN cause Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), but the mechanisms whereby Bscl2 regulates adipose tissue function are unclear...
  53. Liu X, Xie B, Qi Y, Du X, Wang S, Zhang Y, et al. The expression of SEIPIN in the mouse central nervous system. Brain Struct Funct. 2016;221:4111-4127 pubmed
    Immunohistochemical staining was used to investigate the expression pattern of SEIPIN in the mouse central nervous system...
  54. Han S, Binns D, Chang Y, Goodman J. Dissecting seipin function: the localized accumulation of phosphatidic acid at ER/LD junctions in the absence of seipin is suppressed by Sei1p(ΔNterm) only in combination with Ldb16p. BMC Cell Biol. 2015;16:29 pubmed publisher
    b>Seipin is required for the correct assembly of cytoplasmic lipid droplets...
  55. Qian Y, Yin J, Hong J, Li G, Zhang B, Liu G, et al. Neuronal seipin knockout facilitates Aβ-induced neuroinflammation and neurotoxicity via reduction of PPARγ in hippocampus of mouse. J Neuroinflammation. 2016;13:145 pubmed publisher
    A characteristic phenotype of congenital generalized lipodystrophy 2 (CGL2) that is caused by loss-of-function of seipin gene is mental retardation. Seipin is highly expressed in hippocampal pyramidal cells and astrocytes...
  56. Dollet L, Levrel C, Coskun T, Le Lay S, Le May C, Ayer A, et al. FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency. Diabetes. 2016;65:3410-3417 pubmed
    ..its effect on adipocyte dysfunction in the context of Berardinelli-Seip congenital lipodystrophy (BSCL) linked to seipin deficiency...
  57. Joubert M, Jagu B, Montaigne D, Marechal X, Tesse A, Ayer A, et al. The Sodium-Glucose Cotransporter 2 Inhibitor Dapagliflozin Prevents Cardiomyopathy in a Diabetic Lipodystrophic Mouse Model. Diabetes. 2017;66:1030-1040 pubmed publisher
    ..of diabetic cardiomyopathy, we studied a unique model of T2DM: lipodystrophic Bscl2-/- (seipin knockout [SKO]) mice...
  58. Rahman O, Khawar N, Khan M, Ahmed J, Khattak K, Al Aama J, et al. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. Diagn Pathol. 2013;8:78 pubmed publisher
    ..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...
  59. Jiang M, Gao M, Wu C, He H, Guo X, Zhou Z, et al. Lack of testicular seipin causes teratozoospermia syndrome in men. Proc Natl Acad Sci U S A. 2014;111:7054-9 pubmed publisher
    ..of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and ..
  60. Cai Y, Goodman J, Pyc M, Mullen R, Dyer J, Chapman K. Arabidopsis SEIPIN Proteins Modulate Triacylglycerol Accumulation and Influence Lipid Droplet Proliferation. Plant Cell. 2015;27:2616-36 pubmed publisher
    The lipodystrophy protein SEIPIN is important for lipid droplet (LD) biogenesis in human and yeast cells...
  61. Wang M, Gao M, Liao J, Qi Y, Du X, Wang Y, et al. Adipose tissue deficiency results in severe hyperlipidemia and atherosclerosis in the low-density lipoprotein receptor knockout mice. Biochim Biophys Acta. 2016;1861:410-8 pubmed publisher
    ..Here, we examined lipoprotein metabolism and atherogenesis in a unique mouse model of severe lipodystrophy: the Seipin(-/-) mice, and also in mice deficient in both low-density lipoprotein receptor (Ldlr) and Seipin: the Ldlr(-/-)..
  62. Kociucka B, Flisikowska T, Mróz D, Szczerbal I. Expression of genes involved in lipid droplet formation (BSCL2, SNAP23 and COPA) during porcine in vitro adipogenesis. J Appl Genet. 2016;57:505-510 pubmed
    ..In the present study, expression of three genes involved in lipid droplet formation (SNAP23, BSCL2 and COPA) was evaluated during porcine adipogenesis...
  63. Sun B, Chen Z, Ling L, Yang F, Huang X. Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. J Peripher Nerv Syst. 2017;22:13-18 pubmed publisher
    ..27%, p < 0.05). Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c...
  64. Liao J, Liu X, Gao M, Wang M, Wang Y, Wang F, et al. Dyslipidemia, steatohepatitis and atherogenesis in lipodystrophic apoE deficient mice with Seipin deletion. Gene. 2018;648:82-88 pubmed publisher
    b>SEIPIN is an integral membrane protein located in the endoplasmic reticulum, regulating adipocytes differentiation and lipolysis...
  65. Kochanski A, Dierick I, Timmerman V, Hausmanowa Petrusewicz I. [Silver syndrome--case report]. Neurol Neurochir Pol. 2007;41:562-6 pubmed
    ..The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families...
  66. Li G, Zhou L, Zhu Y, Wang C, Sha S, Xian X, et al. Seipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPARγ. Dis Model Mech. 2015;8:1615-24 pubmed publisher
    The seipin gene (BSCL2) was originally identified in humans as a loss-of-function gene associated with congenital generalized lipodystrophy type 2 (CGL2)...
  67. Grippa A, Buxó L, Mora G, Funaya C, Idrissi F, Mancuso F, et al. The seipin complex Fld1/Ldb16 stabilizes ER-lipid droplet contact sites. J Cell Biol. 2015;211:829-44 pubmed publisher
    ..Here, we show that the yeast seipin Fld1, in complex with the ER membrane protein Ldb16, prevents equilibration of ER and LD surface components by ..
  68. Hsiao C, Tsai P, Lin C, Liu Y, Huang Y, Liao Y, et al. Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. PLoS ONE. 2016;11:e0147677 pubmed publisher
    ..In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability...
  69. Chen R, Yuan X, Wang J, Zhang Y. Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. Gene. 2017;637:57-62 pubmed publisher
    ..Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2...
  70. Wolinski H, Hofbauer H, Hellauer K, Cristobal Sarramian A, Kolb D, Radulovic M, et al. Seipin is involved in the regulation of phosphatidic acid metabolism at a subdomain of the nuclear envelope in yeast. Biochim Biophys Acta. 2015;1851:1450-64 pubmed publisher
    Yeast Fld1 and Ldb16 resemble mammalian seipin, implicated in neutral lipid storage. Both proteins form a complex at the endoplasmic reticulum-lipid droplet (LD) interface...
  71. Rohkamm B, Reilly M, Lochmuller H, Schlotter Weigel B, Barisic N, Schols L, et al. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci. 2007;263:100-6 pubmed
    ..overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes...
  72. Guo J, Qiu W, Soh S, Wei S, Radda G, Ong W, et al. Motor neuron degeneration in a mouse model of seipinopathy. Cell Death Dis. 2013;4:e535 pubmed publisher
    Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip congenital lipodystrophy type 2)/Seipin is associated with a broad spectrum of motoneuron diseases...
  73. Renvoisé B, Malone B, Falgairolle M, Munasinghe J, Stadler J, Sibilla C, et al. Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. Hum Mol Genet. 2016;25:5111-5125 pubmed publisher
    ..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)...
  74. Wu Y, Hung S, Chang Y, Chen S, Lin Y, Chung W. Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene. J Neurol Neurosurg Psychiatry. 2009;80:1180-1 pubmed publisher
  75. Schuster J, Khan T, Tariq M, Shaiq P, Mäbert K, Baig S, et al. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet. 2014;15:71 pubmed publisher
    ..sequencing identified a previously unreported homozygous mutation in the acceptor splice site of intron 5 in the BSCL2 gene (c.574-2A?>?G). Expression analysis revealed that the mutation was associated with skipping of exon 6...
  76. Monteiro A, Real R, Nadais G, Silveira F, Leão M. BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. Muscle Nerve. 2015;51:456-8 pubmed publisher
  77. Pagac M, Cooper D, Qi Y, Lukmantara I, Mak H, Wu Z, et al. SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase. Cell Rep. 2016;17:1546-1559 pubmed publisher
    Berardinelli-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...
  78. Qi Y, Sun L, Yang H. Lipid droplet growth and adipocyte development: mechanistically distinct processes connected by phospholipids. Biochim Biophys Acta Mol Cell Biol Lipids. 2017;1862:1273-1283 pubmed publisher
    ..studies have uncovered a number of proteins that are able to regulate both LD dynamics and adipogenesis, such as SEIPIN, LIPIN and CDP-Diacylglycerol Synthases...
  79. Brugman F, Scheffer H, Schelhaas H, Nillesen W, Wokke J, van de Warrenburg B, et al. Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes. J Neurol. 2009;256:824-6 pubmed publisher
  80. Zhang Y, Long H, Zhou F, Zhu W, Ruan J, Zhao Y, et al. Echinacoside's nigrostriatal dopaminergic protection against 6-OHDA-Induced endoplasmic reticulum stress through reducing the accumulation of Seipin. J Cell Mol Med. 2017;21:3761-3775 pubmed publisher
    ..The validated mechanism of ECH activity was the reduction in the 6-OHDA-induced accumulation of seipin (Berardinelli-Seip congenital lipodystrophy 2)...
  81. Zowalaty A, Ye X. Seipin deficiency leads to defective parturition in mice. Biol Reprod. 2017;97:378-386 pubmed publisher
    b>Seipin is an integral endoplasmic reticulum membrane protein encoded by Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2/Bscl2) gene...
  82. Eisenberg Bord M, Mari M, Weill U, Rosenfeld Gur E, Moldavski O, Castro I, et al. Identification of seipin-linked factors that act as determinants of a lipid droplet subpopulation. J Cell Biol. 2018;217:269-282 pubmed publisher
    ..We show that Ldo proteins cooperate with the LD biogenesis component seipin and establish LD identity by defining positioning and surface-protein composition...
  83. Pennisi M, Raggi A, Barone R, Muglia M, Citrigno L, Cantone M, et al. Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series. Acta Neurol Belg. 2012;112:57-64 pubmed publisher
    ..This broad phenotypic and genotypic spectrum calls the clinician attention to this rare and still insufficiently known disease. ..
  84. Fan H, Chen S, Sun Y, Xu S, Wu L. Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation. Acta Pharmacol Sin. 2015;36:497-506 pubmed publisher
    b>Seipin is a protein that resides in endoplasmic reticulum, and involved in both lipid metabolic disorders and motor neuropathy...
  85. Sánchez Iglesias S, Unruh Pinheiro A, Guillín Amarelle C, González Méndez B, Ruiz Riquelme A, Rodríguez Cañete B, et al. Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis. PLoS ONE. 2016;11:e0158874 pubmed publisher
    ..985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin)...
  86. Kornke J, Maniak M. Fat-containing cells are eliminated during Dictyostelium development. Biol Open. 2017;6:1294-1304 pubmed publisher
    ..i>Dictyostelium seipin, an orthologue of a human protein that in patients causes the complete loss of adipose tissue when mutated, does ..
  87. Ohsaki Y, Sołtysik K, Fujimoto T. The Lipid Droplet and the Endoplasmic Reticulum. Adv Exp Med Biol. 2017;997:111-120 pubmed publisher
    ..Lipin, seipin, and FIT proteins, which are located at the ER-LD interface, may be involved in the lipid ester transport and ..
  88. Chaudhry R, Kidambi A, Brewer M, Antonellis A, Mathews K, Nicholson G, et al. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve. 2013;47:922-4 pubmed publisher
    ..However, exome sequencing identified a known BSCL2 mutation (N88S)...
  89. Guillen Navarro E, Sánchez Iglesias S, Domingo Jimenez R, Victoria B, Ruiz Riquelme A, Rabano A, et al. A new seipin-associated neurodegenerative syndrome. J Med Genet. 2013;50:401-9 pubmed publisher
    b>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...