IndraLab

Statements

Mutated UCHL1 activates Parkinson Disease. 3 / 3
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"UCHL1 mutations have been known to induce PD, which defines UCHL1 as a PD-susceptible gene."
34244144
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"Also, a mutant of UCH-L1, I93M (Ile93 to Met), was shown to cause a type of autosomal dominant PD in one German family XREF_BIBR."
24959670
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"Our findings may provide novel insights into the molecular links between alpha-synuclein and UCH-L1 and suggest that aberrant interaction of mutant UCH-L1 with CMA machinery, at least partly, underlies the pathogenesis of PD associated with I93M UCH-L1."
18550537