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PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Muhammad, Emad; Levitas, Aviva; Singh, Sonia R; Braiman, Alex; Ofir, Rivka; Etzion, Sharon; Sheffield, Val C; Etzion, Yoram; Carrier, Lucie; Parvari, Ruti.
Afiliação
  • Muhammad E; Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.
  • Levitas A; Department of Pediatric Cardiology, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84101, Israel.
  • Singh SR; Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany, DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Germany.
  • Braiman A; Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.
  • Ofir R; Regenerative Medicine and Stem Cell Research Center, Beer-Sheva 84105, Israel.
  • Etzion S; Regenerative Medicine and Stem Cell Research Center, Beer-Sheva 84105, Israel.
  • Sheffield VC; Department of Pediatrics, Division of Medical Genetics and Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.
  • Etzion Y; Regenerative Medicine and Stem Cell Research Center, Beer-Sheva 84105, Israel, Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel and.
  • Carrier L; Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany, DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Germany.
  • Parvari R; Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel ruthi@bgu.ac.il.
Hum Mol Genet ; 24(25): 7227-40, 2015 Dec 20.
Article em En | MEDLINE | ID: mdl-26464484
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Cardiomiopatia Dilatada / Lisossomos Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Cardiomiopatia Dilatada / Lisossomos Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Ano de publicação: 2015 Tipo de documento: Article