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November 13, 2025Human Molecular GeneticsOpen Access

Inhibition or genetic reduction of ASAH1 /acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from Parkinson’s patients

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Authors

MKManoj KumarRFRicardo A. Feldman

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Overview

Study finds α-synuclein accumulation is reduced in GBA1 mutant dopamine neurons, indicating autophagy may be targeted for Parkinson's disease treatment.

Key Points

  • This research investigates the role of acid ceramidase in α-synuclein clearance in GBA1-related Parkinson's disease.
  • Used induced pluripotent stem cells from Parkinson's patients with GBA1 mutations.
  • Examined α-synuclein levels and autophagy in dopamine neurons.
  • Tested ACDase inhibitors and CRISPR/Cas9 knockdown of ASAH1.
  • Elevated α-synuclein levels were found in mutant dopamine neurons.
  • Impaired autophagy and decreased cathepsin D levels were noted.
  • Inhibition of ACDase reversed phenotypic abnormalities in the mutant neurons.

Cite This Study

Kumar et al. (2025) studied this question.

synapsesocial.com/papers/692523b2c0ce034ddc3546dchttps://doi.org/10.1093/hmg/ddaf166
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1AAV delivery of GBA1 suppresses alpha-synuclein accumulation in Parkinson's disease models and restores motor dysfunction in a Gaucher's disease model2024 · 1 citations
  2. 2GBA1 mutations as a role model for precision medicine in Parkinson’s disease2026
  3. 3Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic <i>GBA1</i> Mutation Carriers2024 · 1 citations
  4. 4Inhibition of cysteine protease cathepsin L increases the level and activity of lysosomal glucocerebrosidase2024 · 5 citations
  5. 5Targeting Lysosomal pH Restores Mitochondrial Quality Control in GBA1-Mutant Parkinsons Disease2025