PubMed

Prevalence of mutations in AGPAT2 among human lipodystrophies.

Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M.

Diabetes. 2003 Jun;52(6):1573-8.PMID: 12765973 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.

Gomes KB, Fernandes AP, Ferreira AC, Pardini H, Garg A, Magré J, Pardini VC.

J Clin Endocrinol Metab. 2004 Jan;89(1):357-61.PMID: 14715872 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7.PMID: 14557463 [PubMed - indexed for MEDLINE]Related articlesFree article

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.

Boutet E, El Mourabit H, Prot M, Nemani M, Khallouf E, Colard O, Maurice M, Durand-Schneider AM, Chrétien Y, Grès S, Wolf C, Saulnier-Blache JS, Capeau J, Magré J.

Biochimie. 2009 Jun;91(6):796-803. Epub 2009 Feb 6.PMID: 19278620 [PubMed - indexed for MEDLINE]Related articles

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané 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; BSCL Working Group.

Nat Genet. 2001 Aug;28(4):365-70.PMID: 11479539 [PubMed - indexed for MEDLINE]Related articles

Genetic basis of congenital generalized lipodystrophy.

Agarwal AK, Barnes RI, Garg A.

Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. Review.PMID: 14557833 [PubMed - indexed for MEDLINE]Related articles

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, Miyanaga F, Miyazawa T, Hayashi T, Hosoda K, Ogawa Y, Nakao K.

J Clin Endocrinol Metab. 2004 May;89(5):2360-4.PMID: 15126564 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

Fu M, Kazlauskaite R, Baracho Mde F, Santos MG, Brandão-Neto J, Villares S, Celi FS, Wajchenberg BL, Shuldiner AR.

J Clin Endocrinol Metab. 2004 Jun;89(6):2916-22.PMID: 15181077 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.

Simha V, Garg A.

J Clin Endocrinol Metab. 2003 Nov;88(11):5433-7.PMID: 14602785 [PubMed - indexed for MEDLINE]Related articlesFree article

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A.

Nat Genet. 2002 May;31(1):21-3. Epub 2002 Apr 22.PMID: 11967537 [PubMed - indexed for MEDLINE]Related articles

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J.

J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. Epub 2008 Jan 22.PMID: 18211975 [PubMed - indexed for MEDLINE]Related articlesFree article

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.

Szymanski KM, Binns D, Bartz R, Grishin NV, Li WP, Agarwal AK, Garg A, Anderson RG, Goodman JM.

Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20890-5. Epub 2007 Dec 18.PMID: 18093937 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.

Gomes KB, Pardini VC, Ferreira AC, Fernandes AP.

J Inherit Metab Dis. 2005;28(6):1123-31.PMID: 16435205 [PubMed - indexed for MEDLINE]Related articles

Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.

Haque W, Garg A, Agarwal AK.

Biochem Biophys Res Commun. 2005 Feb 11;327(2):446-53.PMID: 15629135 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine 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, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S.

J Med Genet. 2002 Oct;39(10):722-33. Erratum in: J Med Genet. 2003 Feb;40(2):150.. PMID: 12362029 [PubMed - indexed for MEDLINE]Related articlesFree article

[Primary lipodystrophies]

Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C.

Ann Endocrinol (Paris). 2007 Feb;68(1):10-20. Epub 2007 Feb 21. French. PMID: 17320032 [PubMed - indexed for MEDLINE]Related articles

Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.

Jin J, Cao L, Zhao Z, Shen S, Kiess W, Zhi D, Ye R, Cheng R, Chen L, Yang Y, Luo F.

Eur J Endocrinol. 2007 Dec;157(6):783-7.PMID: 18057387 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G.

Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. Epub 2008 Nov 12.PMID: 19041432 [PubMed - indexed for MEDLINE]Related articles

Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.

Gomes KB, Pardini VC, Ferreira AC, Fonseca CG, Fernandes AP.

Ann Hum Genet. 2007 Nov;71(Pt 6):729-34. Epub 2007 May 29.PMID: 17535271 [PubMed - indexed for MEDLINE]Related articles

Diseases of adipose tissue: genetic and acquired lipodystrophies.

Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C, Bastard JP.

Biochem Soc Trans. 2005 Nov;33(Pt 5):1073-7. Review.PMID: 16246048 [PubMed - indexed for MEDLINE]Related articles