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

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About: Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy Goto Sponge NotDistinct Permalink

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scientific article published on 24 October 2008

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 2008 (uk) scientific article published on 24 October 2008 (en) գիտական հոդված հրատարակված 2008 թվականի հոկտեմբերի 24-ին (hy) artículu científicu espublizáu n'ochobre de 2008 (ast)
publication date	wds:Q79705358-76CF36A1-FEF0-4897-ACC5-8A62E7BF48B1
publication date	2008-10-24 00:00:00Z (xsd:dateTime)
author name string	wds:Q79705358-44B65446-2D6E-4C2B-9AE8-FE3D5B177CE8 wds:Q79705358-4F5388DE-8C1E-49A1-926F-D000F4BA719B wds:Q79705358-825708CD-3996-4F52-A2D2-18AC3F1FDB5E wds:Q79705358-9C446488-1704-43B6-80D9-DB5F437D94A8 wds:Q79705358-9EC04C15-8955-4649-8D4F-1410C3C843B6 wds:Q79705358-A9A607F1-D361-478B-A049-EE730F37CC09 wds:Q79705358-D527B90D-912F-4B18-9F59-7628A01E6955 wds:Q79705358-ED7F5CE6-F758-4F1F-B830-CF60E6657242 wds:Q79705358-FD647A97-A056-4399-8749-2E3844A82601
author name string	Salvatore DiMauro Marcello Arca Claudio Bruno Francesco Pierelli Carlo Casali Elena Pennisi Filomena Campagna Luisa Nanni Constantine Michailidis
rdfs:label	Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (en) Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (nl)
skos:prefLabel	Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (en) Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (nl)
name	Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (en) Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (nl)
author	wds:Q79705358-34511F16-AF49-4F8E-AF05-15F22FFC7E58
author	Fabiana Quagliarini
title	wds:Q79705358-24505FD3-7D47-4AFC-8601-2226BD2F6128
title	Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy (en)
page(s)	wds:Q79705358-39E30082-A172-4223-AEB6-45B737B5F7CE
page(s)	843-846
instance of	wds:Q79705358-7BED33D9-8550-4557-95B2-4784AA97E9E4
instance of	scholarly article
main subject	wds:Q79705358-59234204-B710-488E-A4DE-E012769DA2CB
main subject	neutral lipid storage disease
PubMed ID	wds:Q79705358-D967FA5A-0111-4394-B44A-F83DF8868A26
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/18952067
PubMed ID	18952067
published in	wds:Q79705358-F2227565-AD47-4B54-951F-BCD63BC3A701
published in	Biochemical and Biophysical Research Communications
issue	wds:Q79705358-46583AE2-4712-4790-9BA1-B68203CF1DCA
volume	wds:Q79705358-D547EAA4-6E77-42EA-B3C8-FBC5DACE2439
issue	3
volume	377
DOI	wds:Q79705358-35039C45-B124-4DFE-AD4A-4709A5227ACE
DOI	http://dx.doi.org/10.1016/J.BBRC.2008.10.081
DOI	10.1016/J.BBRC.2008.10.081
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q79705358
is cites work of	Mammalian triacylglycerol metabolism: synthesis, lipolysis, and signaling Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. Myopathy with statin-fibrate combination therapy: clinical considerations The G0/G1 switch gene 2 (G0S2): regulating metabolism and beyond Adipose triglyceride lipase regulates eicosanoid production in activated human mast cells. Symptomatic lipid storage in carriers for the PNPLA2 gene Identification of diverse lipid droplet targeting motifs in the PNPLA family of triglyceride lipases Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement. Metabolic lipid muscle disorders: biomarkers and treatment Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function Cardiac dysfunction in adipose triglyceride lipase deficiency: treatment with a PPARα agonist Lipolysis and lipophagy in lipid storage myopathies. Muscle MRI in neutral lipid storage disease (NLSD). Exciting perspectives for Translational Myology in the Abstracts of the 2018Spring PaduaMuscleDays: Giovanni Salviati Memorial - Chapter II - Abstracts of March 15, 2018 Of mice and men: The physiological role of adipose triglyceride lipase (ATGL) Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM What Can be Learned from the Time Course of Changes in Low-Frequency Stimulated Muscle?
is cites work of	wds:Q33667982-0C8CA2B9-0E77-4FE5-84B3-C82AB89640C0 wds:Q42591143-C6A2C11F-6274-49D6-BFB9-1583F0AFD319 wds:Q37043794-C9C4B8BA-2FDD-46F0-B80D-8C82141B0A94 wds:Q43863876-DB49DCCD-444D-43B5-A940-4E51BC4AF149 wds:Q64099753-298D632B-D25A-4FF2-81B8-AC49D76E9432 wds:Q35235426-68BF5614-D06E-4B98-B046-75FF3C8116D1 wds:Q36972427-452551E7-84CE-46D1-8890-B8A588AF2EAA wds:Q54592206-1E5CE29B-485F-4007-AD6B-A0B033486687 wds:Q90600489-3864726B-4885-433A-9EF1-E7754AD338FA wds:Q35708138-733177B3-199D-470C-8846-F713E39E8569 wds:Q37563958-2122C2B4-133B-45B1-A1B9-4A0C22803F16 wds:Q58118029-F8F1A19D-BC1F-4395-BEA9-3516AC293066 wds:Q58733415-6C09943D-9ABB-4DC6-9E49-CF389AC2F110 wds:Q34418229-B406B23C-45A3-473F-BC2A-0AE2CAA43209 wds:Q33695645-946802CF-8FDD-40DC-95A3-37797952DF52 wds:Q51346060-3516D779-320B-4361-A857-247EC598CDBF wds:Q36934756-AAA39C6A-5FF7-4B9B-9192-8824C70C2001 wds:Q38786572-49456C49-1358-4C94-B26B-F3C36935B4D4 wds:Q64118342-4DFED0F7-28E6-44A5-B725-BD5B47668E2E wds:Q37892924-C37AC62B-7CC0-4355-8243-D75A7499FF55

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