A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice

Mitochondrial structure and function is emerging as a major contributor to neuromuscular disease, highlighting the need for the complete elucidation of the underlying molecular and pathophysiological mechanisms. Following a forward genetics approach with N-ethyl-N-nitrosourea (ENU)-mediated random m...

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Hauptverfasser: Ioakeimidis, Fotis, Ott, Christine, Kozjak-Pavlovic, Vera, Violitzi, Foteini, Rinotas, Vagelis, Makrinou, Eleni, Eliopoulos, Elias, Fasseas, Costas, Kollias, George, Douni, Eleni
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2014
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4128653/
https://ncbi.nlm.nih.gov/pubmed/25111180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104237
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