(Q34418229)

English

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1 reference

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author name string

Daniela Tavian

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Sara Missaglia

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Chiara Redaelli

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Elena M Pennisi

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Gloria Invernici

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Ruediger Wessalowski

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Robert Maiwald

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Marcello Arca

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Rosalind A Coleman

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

17 September 2012

1 reference

Europe PubMed Central

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2 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

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2 August 2017

21

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

24

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

5318-5328

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510752/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

New insights into therapeutic options for Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Cardiac dysfunction in adipose triglyceride lipase deficiency: treatment with a PPARα agonist

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Differential control of ATGL-mediated lipid droplet degradation by CGI-58 and G0S2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Adipose triglyceride lipase plays a key role in the supply of the working muscle with fatty acids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Adipose triglyceride lipase: function, regulation by insulin, and comparison with adiponutrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Stable expression of antisense urokinase mRNA inhibits the proliferation and invasion of human hepatocellular carcinoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

6 July 2018

Triglyceride deposit cardiomyovasculopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS388

21 January 2018

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS388

21 January 2018

Adipose triacylglycerol lipase deletion alters whole body energy metabolism and impairs exercise performance in mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS388

21 January 2018

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS388

21 January 2018

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510752

27 October 2018

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

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Successful long-term enzyme replacement therapy in a young adult with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optimisation of oil red O staining permits combination with immunofluorescence and automated quantification of lipids

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multisystem triglyceride storage disorder without ichthyosis in two siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets

1 reference

https://pubmed.ncbi.nlm.nih.gov/22990388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS388

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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