Molecular basis of partial lipodystrophy and prospects for therapy (Q34207689)

31 July 2017

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title

Molecular basis of partial lipodystrophy and prospects for therapy (English)

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31 July 2017

main subject

partial lipodystrophy

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Hegele RA

1

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31 July 2017

publication date

1 March 2001

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Trends in Molecular Medicine

31 July 2017

published in

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31 July 2017

volume

7

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31 July 2017

issue

3

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31 July 2017

page(s)

121-126

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Pathophysiology of insulin resistance in human disease.

31 July 2017

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Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state

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Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

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A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

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Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

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cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins

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Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

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The envelope, please: nuclear lamins and disease

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Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy.

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Pushing the envelope on lipodystrophy.

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Identification of a novel retinoic acid-responsive element within the lamin A/C promoter

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Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes

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LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.

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Regulation of fatty acid homeostasis in cells: novel role of leptin

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Surgical implantation of adipose tissue reverses diabetes in lipoatrophic mice

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Abdominal obesity and its metabolic complications: implications for the risk of ischaemic heart disease.

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Regulation of adipocyte gene expression and differentiation by peroxisome proliferator activated receptor gamma

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7 January 2021

Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes.

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Pathogenesis of HIV-1-protease inhibitor-associated peripheral lipodystrophy, hyperlipidaemia, and insulin resistance

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Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy

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Acinus is a caspase-3-activated protein required for apoptotic chromatin condensation

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Identifiers

DOI

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31 July 2017

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