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Mutations in the gene encoding for glucocerebrosidase are the greatest known genetic risk factor for developing Parkinson's disease. Glucocerebrosidase is a lysosomal enzyme involved in sphingolipid metabolism. Impairment of the autophagy-lysosomal pathway is implicated in the accumulation/aggregation of alpha-synuclein and the mitochondrial dysfunction observed in Parkinson's disease. I am investigating the mechanisms by which glucocerebrosidase deficiency contributes to aberrant function of the autophagy-lysosome pathway.
Mutations in the gene encoding for glucocerebrosidase are the greatest known genetic risk factor for developing Parkinson's disease. Glucocerebrosidase is a lysosomal enzyme involved in sphingolipid metabolism. Impairment of the autophagy-lysosomal pathway is implicated in the accumulation/aggregation of alpha-synuclein and the mitochondrial dysfunction observed in Parkinson's disease. I am investigating the mechanisms by which glucocerebrosidase deficiency contributes to aberrant function of the autophagy-lysosome pathway.
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Uxoa Fernadez-Pelayo, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Amaia Lopez de Arbina, Irati Aiestaran- Zelaia,Maria Jesus Sánchez-Guisado,Boris Pantic, Amaia Elicegui, Monica Zufiria,Pablo Iruzubieta,Maialen Sagartzazu-Aizpurua, Jesús M Aizpurua,
biorxiv(2024)
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Brain communicationsno. 6 (2023)
Disease models & mechanismsno. 6 (2023)
crossref(2020)
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