The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy (Q34594323)

3 August 2017

title

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

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neutral lipid storage disease

3 August 2017

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Mark Lathrop

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3 August 2017

Eva Morava

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3 August 2017

Judith Fischer

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3 August 2017

Caroline Lefèvre

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3 August 2017

Jean-Marie Mussini

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3 August 2017

Pascal Laforêt

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3 August 2017

Anne Negre-Salvayre

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3 August 2017

Robert Salvayre

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3 August 2017

language of work or name

English

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publication date

24 December 2006

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

28-30

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

3 August 2017

cites work

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Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy

21 January 2018

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

21 January 2018

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Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase

21 January 2018

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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

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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

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ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells

21 January 2018

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Lipolysis: pathway under construction

21 January 2018

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Brummer lipase is an evolutionary conserved fat storage regulator in Drosophila

21 January 2018

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Obese yeast: triglyceride lipolysis is functionally conserved from mammals to yeast

21 January 2018

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

21 January 2018

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

21 January 2018

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The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Neutral-lipid storage disease: a new disorder of lipid metabolism

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1951

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Dimensions Publication ID

3 August 2017

1041154068

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