Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

Abstract Protein import into mitochondria is facilitated by translocases within the outer and the inner mitochondrial membranes that are dedicated to a highly specific subset of client proteins. The mitochondrial carrier translocase (TIM22 complex) inserts multispanning proteins, such as mitochondri...

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Veröffentlicht in:	Human molecular genetics 2018-12, Vol.27 (23), p.4135-4144
Hauptverfasser:	Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E, Spencer, Emily G, McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W, Montoya, Julio, Rehling, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Carrier Proteins - genetics Child DNA, Mitochondrial - genetics Exome Sequencing Female Fibroblasts - metabolism Genetic Predisposition to Disease Humans Lactic Acid - cerebrospinal fluid Membrane Transport Proteins - genetics Mitochondria - genetics Mitochondria - pathology Mitochondrial Membrane Transport Proteins - genetics Mitochondrial Membranes - metabolism Mitochondrial Membranes - pathology Mitochondrial Myopathies - cerebrospinal fluid Mitochondrial Myopathies - genetics Mitochondrial Myopathies - pathology Mitochondrial Precursor Protein Import Complex Proteins Mutation Saccharomyces cerevisiae - genetics Saccharomyces cerevisiae Proteins - genetics
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