Clinical review#: Lipodystrophies: genetic and acquired body fat disorders (Q28246346)

9 April 2017

author name string

Abhimanyu Garg

series ordinal

1

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9 April 2017

language of work or name

English

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publication date

November 2011

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The Journal of Clinical Endocrinology and Metabolism

9 April 2017

published in

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9 April 2017

volume

96

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9 April 2017

issue

11

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9 April 2017

page(s)

3313-25

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3313-3325

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Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome

9 April 2017

cites work

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Lipodystrophy: lessons in lipid and energy metabolism

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

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Acquired and inherited lipodystrophies

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

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

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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report

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A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors

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

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Atypical progeroid syndrome due to heterozygous missense LMNA mutations

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Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene

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12 December 2020

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.

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12 December 2020

Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety

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12 December 2020

Genetic disorders of adipose tissue development, differentiation, and death

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12 December 2020

Triglyceride containing lipid droplets and lipid droplet-associated proteins

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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

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12 December 2020

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

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12 December 2020

FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets

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12 December 2020

Effects of tesamorelin (TH9507), a growth hormone-releasing factor analog, in human immunodeficiency virus-infected patients with excess abdominal fat: a pooled analysis of two multicenter, double-blind placebo-controlled phase 3 trials with safety e

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12 December 2020

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

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12 December 2020

Complement-mediated adipocyte lysis by nephritic factor sera

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12 December 2020

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

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12 December 2020

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

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12 December 2020

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

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12 December 2020

Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast

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12 December 2020

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

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12 December 2020

Perilipin deficiency and autosomal dominant partial lipodystrophy

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12 December 2020

Prevalence of mutations in AGPAT2 among human lipodystrophies

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12 December 2020

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

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Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

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

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12 December 2020

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

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12 December 2020

Phenotype and course of Hutchinson-Gilford progeria syndrome

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy

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12 December 2020

Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome.

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12 December 2020

Lipodystrophies: rare disorders causing metabolic syndrome

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12 December 2020

An undiagnosed endocrinometabolic syndrome: report of 2 cases

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12 December 2020

Fatty acid metabolism in patients with PPARgamma mutations

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12 December 2020

Leptin-replacement therapy for lipodystrophy.

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12 December 2020

Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?

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12 December 2020

Lipodystrophies: disorders of adipose tissue biology

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12 December 2020

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

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12 December 2020

Cardiovascular risk and body-fat abnormalities in HIV-infected adults

1 reference

12 December 2020

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

1 reference

12 December 2020

Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Caveolin-1: a new locus for human lipodystrophy

1 reference

12 December 2020

Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Complement abnormalities in acquired lipodystrophy revisited

1 reference

12 December 2020

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

1 reference

12 December 2020

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

1 reference

12 December 2020

Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

1 reference

12 December 2020

Enzymatic activity of the human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 11: upregulated in breast and cervical cancers

1 reference

12 December 2020

[A case of partial lipodystrophy with erythema, dactylic deformities, calcification of the basal ganglia, immunological disorders and low IQ level (author's transl)]

1 reference

12 December 2020

A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism

1 reference

12 December 2020

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

1 reference

12 December 2020

HIV protease inhibitor-related lipodystrophy syndrome

1 reference

12 December 2020

Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

1 reference

12 December 2020

Proteasome function in antigen presentation: immunoproteasome complexes, Peptide production, and interactions with viral proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial DNA mutations in multiple symmetric lipomatosis.

1 reference

12 December 2020

New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys

1 reference

12 December 2020

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

1 reference

12 December 2020

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

1 reference

12 December 2020

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020