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Items: 1 to 20 of 206

1.

Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction.

Bidault G, Garcia M, Vantyghem MC, Ducluzeau PH, Morichon R, Thiyagarajah K, Moritz S, Capeau J, Vigouroux C, Béréziat V.

Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2162-71. doi: 10.1161/ATVBAHA.113.301933.

2.

Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence.

Caron M, Auclair M, Donadille B, Béréziat V, Guerci B, Laville M, Narbonne H, Bodemer C, Lascols O, Capeau J, Vigouroux C.

Cell Death Differ. 2007 Oct;14(10):1759-67.

3.

LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.

Afonso P, Auclair M, Boccara F, Vantyghem MC, Katlama C, Capeau J, Vigouroux C, Caron-Debarle M.

Atherosclerosis. 2016 Feb;245:200-11. doi: 10.1016/j.atherosclerosis.2015.12.012.

PMID:
26724531
4.

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.

Verstraeten VL, Caputo S, van Steensel MA, Duband-Goulet I, Zinn-Justin S, Kamps M, Kuijpers HJ, Ostlund C, Worman HJ, Briedé JJ, Le Dour C, Marcelis CL, van Geel M, Steijlen PM, van den Wijngaard A, Ramaekers FC, Broers JL.

J Cell Mol Med. 2009 May;13(5):959-71. doi: 10.1111/j.1582-4934.2009.00690.x.

5.

Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.

Araújo-Vilar D, Lattanzi G, González-Méndez B, Costa-Freitas AT, Prieto D, Columbaro M, Mattioli E, Victoria B, Martínez-Sánchez N, Ramazanova A, Fraga M, Beiras A, Forteza J, Domínguez-Gerpe L, Calvo C, Lado-Abeal J.

J Med Genet. 2009 Jan;46(1):40-8. doi: 10.1136/jmg.2008.059485.

PMID:
18805829
6.

Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes.

Oldenburg AR, Delbarre E, Thiede B, Vigouroux C, Collas P.

Hum Mol Genet. 2014 Mar 1;23(5):1151-62. doi: 10.1093/hmg/ddt509.

7.

A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.

Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C.

J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234.

PMID:
21346069
8.

The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.

Vadrot N, Duband-Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendia B.

Hum Mol Genet. 2015 Apr 1;24(7):2096-109. doi: 10.1093/hmg/ddu728.

9.

Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A.

Andre P, Schneebeli S, Vigouroux C, Lascols O, Schaaf M, Chevalier P.

Am Heart J. 2015 Apr;169(4):587-93. doi: 10.1016/j.ahj.2014.12.021.

PMID:
25819867
10.

Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.

Ragnauth CD, Warren DT, Liu Y, McNair R, Tajsic T, Figg N, Shroff R, Skepper J, Shanahan CM.

Circulation. 2010 May 25;121(20):2200-10. doi: 10.1161/CIRCULATIONAHA.109.902056.

11.

The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

Wojtanik KM, Edgemon K, Viswanadha S, Lindsey B, Haluzik M, Chen W, Poy G, Reitman M, Londos C.

J Lipid Res. 2009 Jun;50(6):1068-79. doi: 10.1194/jlr.M800491-JLR200.

12.

LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations.

Bidault G, Vatier C, Capeau J, Vigouroux C, Béréziat V.

Biochem Soc Trans. 2011 Dec;39(6):1752-7. doi: 10.1042/BST20110675. Review.

PMID:
22103520
13.

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B.

J Cell Sci. 2001 Dec;114(Pt 24):4459-68.

14.
15.

Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.

Vantyghem MC, Faivre-Defrance F, Marcelli-Tourvieille S, Fermon C, Evrard A, Bourdelle-Hego MF, Vigouroux C, Defebvre L, Delemer B, Wemeau JL.

Clin Endocrinol (Oxf). 2007 Aug;67(2):247-9.

PMID:
17524034
16.

Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins.

Duband-Goulet I, Woerner S, Gasparini S, Attanda W, Kondé E, Tellier-Lebègue C, Craescu CT, Gombault A, Roussel P, Vadrot N, Vicart P, Ostlund C, Worman HJ, Zinn-Justin S, Buendia B.

Exp Cell Res. 2011 Dec 10;317(20):2800-13. doi: 10.1016/j.yexcr.2011.09.012.

17.

Nuclear envelope-related lipodystrophies.

Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, Vatier C, Lascols O, Caron-Debarle M, Capeau J, Vigouroux C.

Semin Cell Dev Biol. 2014 May;29:148-57. doi: 10.1016/j.semcdb.2013.12.015. Review.

PMID:
24384368
18.

Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system.

Auclair M, Vigouroux C, Boccara F, Capel E, Vigeral C, Guerci B, Lascols O, Capeau J, Caron-Debarle M.

Arterioscler Thromb Vasc Biol. 2013 Apr;33(4):829-38. doi: 10.1161/ATVBAHA.112.300962.

19.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.

Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256.

20.

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.

Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.

Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8.

PMID:
18031308
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