Andrea Martinuzzi

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 506 citations

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 · 495 citations · Full text

Genetics, Molecular Biology, Mtdna Binding Site +17

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

Genny Orso, Diana Pendin, Song Liu et al. · Nature · 2009 · 469 citations

Membrane Fusion, Signal Transduction, Homotypic Fusion +11

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 · 308 citations · Full text

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 · Full text

Mutant Genotype, Genetics, Genomic Mechanism +19