Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (Q37463574)

20 August 2017

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title

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (English)

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neutral lipid storage disease

20 August 2017

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1 reference

Martina Schweiger

1

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Thomas O Eichmann

Thomas O Eichmann

4

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Achim Lass

Achim Lass

2

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Robert Zimmermann

Robert Zimmermann

3

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Rudolf Zechner

Rudolf Zechner

5

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publication date

28 April 2009

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American Journal of Physiology - Endocrinology and Metabolism

20 August 2017

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20 August 2017

297

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20 August 2017

2

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20 August 2017

E289-96

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Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

20 August 2017

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Dynamic activity of lipid droplets: protein phosphorylation and GTP-mediated protein translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

CGI-58 facilitates the mobilization of cytoplasmic triglyceride for lipoprotein secretion in hepatoma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Crystal structure of human cytosolic phospholipase A2 reveals a novel topology and catalytic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Identification of a novel keratinocyte retinyl ester hydrolase as a transacylase and lipase

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Brummer lipase is an evolutionary conserved fat storage regulator in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Triglyceride deposit cardiomyovasculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Neutral lipid storage disease with fatty liver and cholestasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Adipose triglyceride lipase (ATGL) expression in human skeletal muscle is type I (oxidative) fiber specific.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Function of hormone-sensitive lipase in diacylglycerol-protein kinase C pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Adipocyte lipases and defect of lipolysis in human obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

The alpha/beta hydrolase fold

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Metabolism of pyrenedecanoic acid in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and from a patient with multisystemic lipid storage myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Hepatic overexpression of hormone-sensitive lipase and adipose triglyceride lipase promotes fatty acid oxidation, stimulates direct release of free fatty acids, and ameliorates steatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

The crystal structure, mutagenesis, and activity studies reveal that patatin is a lipid acyl hydrolase with a Ser-Asp catalytic dyad

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Comparative studies of the role of hormone-sensitive lipase and adipose triglyceride lipase in human fat cell lipolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Lipases and alpha/beta hydrolase fold

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Adipose triglyceride lipase and hormone-sensitive lipase are the major enzymes in adipose tissue triacylglycerol catabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Adipocyte triglyceride lipase expression in human obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Desnutrin, an adipocyte gene encoding a novel patatin domain-containing protein, is induced by fasting and glucocorticoids: ectopic expression of desnutrin increases triglyceride hydrolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Adipose triglyceride lipase regulation of skeletal muscle lipid metabolism and insulin responsiveness

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Ichthyosis: mechanisms of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Characterization of the human patatin-like phospholipase family

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Lipolysis: pathway under construction

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPENDO.00099.2009

10.1152/AJPENDO.00099.2009

21 January 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference

PubMed ID

19401457