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Literature summary for 3.2.1.45 extracted from

  • Aharon-Peretz, J.; Badarny, S.; Rosenbaum, H.; Gershoni-Baruch, R.
    Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation (2005), Neurology, 65, 1460-1461.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information mutations in the glucocerebrosidase are contributory to Parkinson disease in Ashkenazi Jews. The majoriry of glucocerebrosidase mutation carriers who do not develop Parkinson disease are equipped with an efficient genetic mechanism that either prevents the deposition of glucocerebroside or adequately degrades deposited glucocerebroside or excessive alpha-synuclein Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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