Akira Ohtake

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita et al. · PLoS Genetics · 2016 · 293 citations · Full text

Mitochondrial Dysfunction, Genetics, Genetic Epidemiology +18

Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

Michael Lazarou, Matthew McKenzie, Akira Ohtake et al. · Molecular and Cellular Biology · 2007 · 262 citations · Full text

Mitochondrial Inner Membrane, Dna, Genetics +18

Constitutively Activated ALK2 and Increased SMAD1/5 Cooperatively Induce Bone Morphogenetic Protein Signaling in Fibrodysplasia Ossificans Progressiva

Toru Fukuda, Masakazu Kohda, Kazuhiro Kanomata et al. · Journal of Biological Chemistry · 2008 · 203 citations · Full text

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Denise M. Kirby, Renato Salemi, Canny Sugiana et al. · Journal of Clinical Investigation · 2004 · 186 citations · Full text

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text