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ALS1/familial ALS with SOD1 gene mutation

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

Database Correlations

OMIM correlations MORBIDMAP 147450

References

  1. Rosen et al Nature 362:59 1993
  2. OMIM :accession 105400
  3. UniProt :accession P00441