TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah E. Calvo, Mohit Jain, Xiaohui Xie et al. · Nature Genetics · 2006 · 344 citations

Life Sciences, Genetics, Molecular Genetics +12

Respiratory chain complex V deficiency due to a mutation in the assembly gene <i>ATP12</i>

Sara Seneca, Willy Lissens, Inge De Clercq et al. · Journal of Medical Genetics · 2004 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

An I. Jonckheere, Marije Hogeveen, Leo Nijtmans et al. · Journal of Medical Genetics · 2007 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Metalloprotease Encoded by<i>ATP23</i>Has a Dual Function in Processing and Assembly of Subunit 6 of Mitochondrial ATPase

Xiaomei Zeng, Walter Neupert, Alexander Tzagoloff · Molecular Biology of the Cell · 2006 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +13

Atp11p and Atp12p Are Assembly Factors for the F1-ATPase in Human Mitochondria

Zhen Guo Wang, Peter S. White, Sharon H. Ackerman · Journal of Biological Chemistry · 2001 · 92 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11