Andrea Martinuzzi

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 509 citations

Life Sciences, Genetics, Molecular Genetics +17

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

Anne Chomyn, Andrea Martinuzzi, Makoto Yoneda et al. · Proceedings of the National Academy of Sciences · 1992 · 497 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

Genny Orso, Diana Pendin, Song Liu et al. · Nature · 2009 · 471 citations

Life Sciences, Cell Biology, Molecular Biology +14

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

Céline Perier, Kim Tieu, Christelle Guégan et al. · Proceedings of the National Academy of Sciences · 2005 · 310 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

Makoto Yoneda, Anne Chomyn, Andrea Martinuzzi et al. · Proceedings of the National Academy of Sciences · 1992 · 292 citations

Life Sciences, Genetics, Molecular Biology +16