| 1 | BSCL2
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| Seipin is a discrete homooligomer.
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| Binns D, Lee S, Hilton CL, Jiang QX, Goodman JM.
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| Biochemistry 49(50):10747-55. Epub 2010 Nov 18.
2010
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| 2 | AGPAT2, BSCL1, BSCL2, BSCL3, CAV1
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| Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
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| Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.
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| Am J Med Genet A 146A(18):2318-26.
2008
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| 3 | BSCL2
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| The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.
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| Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Dalla Nora E, Semple RK, O'Rahilly S, Rochford JJ.
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| Diabetes 57(8):2055-60. Epub 2008 May 5.PMID: 18458148 2008
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| 4 | BSCL2, SPG17
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| The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.
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| Szymanski KM, Binns D, Bartz R, Grishin NV, Li WP, Agarwal AK, Garg A, Anderson RG, Goodman JM.
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| Proc Natl Acad Sci U S A 104(52):20890-5. Epub 2007 Dec 18. 2007
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| 5 | BSCL2, SPG17
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| Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
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| Ito D, Suzuki N.
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| Ann Neurol 61(3):237-50.
2007
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| 6 | BSCL2, SPG17
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| Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
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| Cho HJ, Sung DH, Ki CS.
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| Muscle Nerve 36(3):384-6.
2007
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| 7 | BSCL2, SPG17
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| BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
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| van de Warrenburg BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG.
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| Neuromuscul Disord 16(2):122-5. Epub 2006 Jan 19. 2006
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| 8 | BSCL2, SPG17
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| Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
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| Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group.
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| Ann Neurol 57(3):415-24. 2005
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| 9 | BSCL1, BSCL2, AGPAT2
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| Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.
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| Gomes KB, Pardini VC, Ferreira AC, Fernandes AP.
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| J Inherit Metab Dis 28(6):1123-31. 2005
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| 10 | SPG17, BSCL2
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| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
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| Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K.
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| Nat Genet 36(3):271-6. Epub 2004 Feb 22. 2004
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| 11 | BSCL1, BSCL2, AGPAT2
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| Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
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| Gomes KB, Fernandes AP, Ferreira AC, Pardini H, Garg A, Magre J, Pardini VC.
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| J Clin Endocrinol Metab 89(1):357-61. 2004
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| 12 | BSCL2, BSCL1, AGPAT2
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| Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
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| Fu M, Kazlauskaite R, Baracho Mde F, Santos MG, Brandao-Neto J, Villares S, Celi FS, Wajchenberg BL, Shuldiner AR.
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| J Clin Endocrinol Metab 89(6):2916-22. 2004
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| 13 | BSCL2
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| Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
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| Van Maldergem L, Magre J, Khallouf TE, Gedde-Dahl T Jr, Delepine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Megarbane A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S.
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| J Med Genet 39(10):722-33. 2002
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| 14 | BSCL2
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| Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
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| Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J.
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| Nat Genet 28(4):365-70. 2001
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| 15 | GNG3, BSCL2
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| Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, Gng3lg.
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| Downes GB, et al.
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| Genomics 53 : 220-230. 1998
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| 16 | BSCL2,GNG3,KRT13,WHSN2
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| Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus.structure and mapping of the G protein gamma 3 subunit gene and a divergently transcribed novel gene,Gng3lg
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| Richard G, et al.Downes GB et al.
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| Nat Genet 11 : 453-455. 1995
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