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8 p, 2.2 MB Loss of mitochondrial Ndufs4 in striatal medium spiny neurons mediates progressive motor impairment in a mouse model of leigh syndrome / Chen, Byron (University of Washington. Howard Hughes Medical Institute) ; Hui, Jessica (Seattle Children's Research Institute (Seattle, Estats Units d'Amèrica)) ; Montgomery, Kelsey S. (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Gella, Alejandro (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Bolea Tomás, Irene (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Sanz Iglesias, Elisenda (Universitat Autònoma de Barcelona. Institut de Neurociències) ; Palmiter, Richard D. (Howard Hughes Medical Institute (Maryland, Estats Units d'Amèrica)) ; Quintana Romero, Albert (Universitat Autònoma de Barcelona. Institut de Neurociències)
Inability of mitochondria to generate energy leads to severe and often fatal myoencephalopathies. Among these, Leigh syndrome (LS) is one of the most common childhood mitochondrial diseases; it is characterized by hypotonia, failure to thrive, respiratory insufficiency and progressive mental and motor dysfunction, leading to early death. [...]
2017 - 10.3389/fnmol.2017.00265
Frontiers in molecular neuroscience, Vol. 10 (August 2017) , article 265  

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