Article
A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.
PloS one - 1 Jan 2014
Ioakeimidis Fotis, Ott Christine, Kozjak-Pavlovic Vera, Violitzi Foteini, Rinotas Vagelis, Makrinou Eleni, Eliopoulos Elias, Fasseas Costas, Kollias George, Douni Eleni
Abstract excerpt
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 mutagenesis, we identified a novel mouse model of autosomal recessive neuromuscular disease caused by a splice-site...
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