DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

J Med Genet. 2004 Mar;41(3):e22. doi: 10.1136/jmg.2003.011106.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetylcysteine / analogs & derivatives*
  • Acetylcysteine / pharmacology
  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Animals
  • Cell Line
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Oncogene Proteins / chemistry
  • Oncogene Proteins / genetics*
  • Oncogene Proteins / metabolism*
  • Parkinsonian Disorders / genetics*
  • Protein Deglycase DJ-1
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • RNA, Messenger
  • lactacystin
  • PARK7 protein, human
  • Protein Deglycase DJ-1
  • Acetylcysteine