ALS1/familial ALS with SOD1 gene mutation
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Pathology
- unlike wild-type protein, the pathogenics variants ALS1 Arg- 38, Arg-47, Arg-86 & Ala-94 are polyubiquitinated by RNF19A which leads to their proteasomal degradation
Genetics
- associated with point mutations in SOD1 gene
More general terms
Additional terms
References
- ↑ Rosen et al Nature 362:59 1993
- ↑ OMIM https://mirror.omim.org/entry/105400
- ↑ UniProt http://www.uniprot.org/uniprot/P00441.html