Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies (Q38155007)

29 August 2017

Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies (English)

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29 August 2017

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Tom Nolis

1

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29 August 2017

24 October 2013

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Journal of Human Genetics

29 August 2017

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29 August 2017

59

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29 August 2017

1

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29 August 2017

16-23

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https://scigraph.springernature.com/pub.10.1038/jhg.2013.107

29 August 2017

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Lipodystrophies: rare disorders causing metabolic syndrome

21 January 2018

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HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options

21 January 2018

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Human immunodeficiency virus type 1-related lipoatrophy and lipohypertrophy are associated with serum concentrations of leptin

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Adipose tissue as an endocrine organ

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Genetic disorders of adipose tissue development, differentiation, and death

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Adipocyte maturation arrest: a determinant of systemic insulin resistance to glucose disposal

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Adipocyte differentiation from the inside out

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Krüppel-like factor KLF9 regulates PPARγ transactivation at the middle stage of adipogenesis

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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

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Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

21 January 2018

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Prevalence of mutations in AGPAT2 among human lipodystrophies

21 January 2018

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A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

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

21 January 2018

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Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations

21 January 2018

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Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

21 January 2018

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Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

21 January 2018

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Seipin: from human disease to molecular mechanism

21 January 2018

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The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

21 January 2018

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Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders

21 January 2018

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Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

21 January 2018

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

21 January 2018

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Clinical review#: Lipodystrophies: genetic and acquired body fat disorders

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Childhood acquired lipodystrophy: a retrospective study

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Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature

21 January 2018

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Complement abnormalities in acquired lipodystrophy revisited

21 January 2018

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Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature

21 January 2018

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Lipodystrophy: pathophysiology and advances in treatment

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Complement-mediated adipocyte lysis by nephritic factor sera

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Acquired partial lipodystrophy in an 11-year-old girl.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

Acquired and inherited lipodystrophies

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Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy

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Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

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.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Perilipin deficiency and autosomal dominant partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Triglyceride containing lipid droplets and lipid droplet-associated proteins

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy

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https://api.crossref.org/works/10.1038%2FJHG.2013.107

PPAR gamma and human metabolic disease

21 January 2018

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The Werner syndrome protein: linking the replication checkpoint response to genome stability

21 January 2018

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Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Clinical review 153: Lipodystrophy in human immunodeficiency virus-infected patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

The effect of individual antiretroviral drugs on body composition in HIV-infected persons initiating highly active antiretroviral therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Zidovudine/lamivudine contributes to insulin resistance within 3 months of starting combination antiretroviral therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Microarray analysis during adipogenesis identifies new genes altered by antiretroviral drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Association between altered expression of adipogenic factor SREBP1 in lipoatrophic adipose tissue from HIV-1-infected patients and abnormal adipocyte differentiation and insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

The mechanism of insulin resistance caused by HIV protease inhibitor therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Gene expression and immunohistochemistry in adipose tissue of HIV type 1-infected patients with nucleoside analogue reverse-transcriptase inhibitor-associated lipoatrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Increased systemic and adipose tissue cytokines in patients with HIV-associated lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

HIV-protease inhibitors block the enzymatic activity of purified Ste24p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

The protease inhibitor atazanavir triggers autophagy and mitophagy in human preadipocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

HIV protease inhibitors disrupt lipid metabolism by activating endoplasmic reticulum stress and inhibiting autophagy activity in adipocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Toxicity of nucleoside analogues used to treat AIDS and the selectivity of the mitochondrial DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Long term adverse effects related to nucleoside reverse transcriptase inhibitors: clinical impact of mitochondrial toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Metabolic outcomes in a randomized trial of nucleoside, nonnucleoside and protease inhibitor-sparing regimens for initial HIV treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

In vitro suppression of the lipogenic pathway by the nonnucleoside reverse transcriptase inhibitor efavirenz in 3T3 and human preadipocytes or adipocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Inhibition of mitochondrial function by efavirenz increases lipid content in hepatic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Genetic analysis implicates resistin in HIV lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Tumour necrosis factor-alpha in human adipose tissue -- from signalling mechanisms to clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Increased rates of lipolysis among human immunodeficiency virus-infected men receiving highly active antiretroviral therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Drug-induced lipotoxicity: lipodystrophy associated with HIV-1 infection and antiretroviral treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Human immunodeficiency virus (HIV)-1 viral protein R suppresses transcriptional activity of peroxisome proliferator-activated receptor {gamma} and inhibits adipocyte differentiation: implications for HIV-associated lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Adipose tissue inflammation and liver fat in patients with highly active antiretroviral therapy-associated lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.107

Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

21 January 2018

1 reference

12 December 2020

Fat redistribution syndromes associated with HIV-1 infection and combination antiretroviral therapy.

1 reference

12 December 2020

Morphological and molecular course of mitochondrial pathology in cultured human cells exposed long-term to Zidovudine

1 reference

12 December 2020

Laminopathies : un seul gène, de nombreuses pathologies

1 reference

12 December 2020

A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34

1 reference

12 December 2020

Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

1 reference

12 December 2020

RECQL5 plays co-operative and complementary roles with WRN syndrome helicase

1 reference

12 December 2020

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

1 reference

12 December 2020

The Werner's Syndrome RecQ helicase/exonuclease at the nexus of cancer and aging

1 reference

12 December 2020

Leptin levels, beta-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatropic diabetes

1 reference

12 December 2020

Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)

1 reference

12 December 2020

Some HIV antiretrovirals increase oxidative stress and alter chemokine, cytokine or adiponectin production in human adipocytes and macrophages.

1 reference

12 December 2020

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

1 reference

12 December 2020

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

2 references

12 December 2020

https://api.crossref.org/works/10.1038%2FJHG.2013.107

7 January 2021

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Identifiers

DOI

10.1038/JHG.2013.107

1 reference

29 August 2017

1 reference

PubMed ID

24152769