A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.

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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Bibliographic Details
Main Authors: Fotis Ioakeimidis, Christine Ott, Vera Kozjak-Pavlovic, Foteini Violitzi, Vagelis Rinotas, Eleni Makrinou, Elias Eliopoulos, Costas Fasseas, George Kollias, Eleni Douni
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4128653?pdf=render

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