Article
Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2000
Martin Isabelle, Vourc'h Patrick, Mahé Marie, Thépault Rose-Anne, Antar Catherine, Védrine Sylviane, Praline Julien, Camu William, Andres Christian R, Corcia Philippe
Abstract excerpt
Ubiquitin inclusions represent a cytopathological hallmark of ALS. The ubiquitin-dependent protein degradation pathway may also be involved in the pathophysiology of SOD1 mutated ALS cases as demonstrated in transgenic animals. UBE2H is an ubiquitin conjugating enzyme known to act on histones and cytoskeletal proteins, both involved in the degenerative pathway of the motor neuron. We screened the whole coding...
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