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Article

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies.

eLife - 23 Jun 2026

Lin Yi, Liou Benjamin, Fannin Venette, Adler Stuart, Mayhew Christopher N, Hammonds Jason E, Hu Yueh-Chiang, Tchieu Jason, Zhang Wujuan, Zhao Xueheng, Beres Rebecca L, Setchell Kenneth D R, Kaynak Ahmet, Qi Xiaoyang, Feldman Ricardo A, Sun Ying

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 the human condition, posing a major barrier to the development of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42334452
DOI: 10.7554/eLife.109518
PMCID: PMC13290227

Genes

GBA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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