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Molecular & Cellular Proteomics : MCP|February 28, 2021
Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS SubunitsFlorian A Rosenberger, Ilian Atanassov, David Moore, et al.
Plos Genetics|May 14, 2016
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA MaturationAna Bratic, Paula Clemente, Javier Calvo-Garrido, et al.
Neurology. Genetics|November 30, 2023
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|June 11, 2023
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseasesDirenis Erdinc, Bertil Macao, Sebastian Valenzuela, et al.
Biomedicines|December 23, 2022
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and EpilepsyRaquel Vaz, Josephine Wincent, Najla Elfissi, et al.
Frontiers in Neurology|April 12, 2021
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)Martin Engvall, Aki Kawasaki, Valerio Carelli, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2002
Increased mitochondrial mass in mitochondrial myopathy miceAnna Wredenberg, Rolf Wibom, Hans Wilhelmsson, et al.
Human Mutation|April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex DeficiencyHelene Bruhn, Karin Naess, Sofia Ygberg, et al.
Cell Metabolism|August 7, 2009
Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator miceDaniel Edgar, Irina Shabalina, Yolanda Camara, et al.
Human Molecular Genetics|October 24, 2008
Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathyJan Aydin, Daniel C Andersson, Sandra L Hänninen, et al.
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