PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction

Gene mutations, mostly segregating with a dominant mode of inheritance, are important causes of dilated cardiomyopathy (DCM), a disease characterized by enlarged ventricular dimensions, impaired cardiac function, heart failure and high risk of death. Another myocardial abnormality often linked to ge...

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Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: Muhammad, Emad, Levitas, Aviva, Singh, Sonia R., Braiman, Alex, Ofir, Rivka, Etzion, Sharon, Sheffield, Val C., Etzion, Yoram, Carrier, Lucie, Parvari, Ruti
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2015
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4664165/
https://ncbi.nlm.nih.gov/pubmed/26464484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv423
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