Article

Patient-Specific Midbrain Organoids with CRISPR Correction Recapitulate Neuronopathic Gaucher Disease Phenotypes and Enable Evaluation of Novel Therapies

2025-11-08

Abstract excerpt

Neuronopathic Gaucher disease (nGD) is a lysosomal storage disorder caused by GBA1 mutations, leading to defective acid β-glucosidase (GCase) and accumulation of glycosphingolipid substrates, causing inflammation and neurodegeneration. Patients with nGD manifest severe neurological symptoms, but current animal models fail to fully recapitulate human condition, posing a major barrier to the development of effectiv...

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Literature Corpus work: 39992dc6-443c-5281-8c09-458516884613
DOI: 10.1101/2025.11.06.686937

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