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

The lack of adipose triglyceride lipase (ATGL), a patatin-like phospholipase domain-containing enzyme that hydrolyzes fatty acids from triacylglycerol (TAG) stored in multiple tissues, causes the autosomal recessive disorder neutral lipid storage disease with myopathy (NLSD-M). In two families of Le...

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Autores principales: Tavian, Daniela, Missaglia, Sara, Redaelli, Chiara, Pennisi, Elena M., Invernici, Gloria, Wessalowski, Ruediger, Maiwald, Robert, Arca, Marcello, Coleman, Rosalind A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510752/
https://ncbi.nlm.nih.gov/pubmed/22990388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds388
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