Work

Miglustat Combination with Molecular Chaperones for GM2 Ganglioside Reduction

Year: 2026

Type: preprint

Abstract: Miglustat (N-butyldeoxynojirimycin) acts as a substrate reduction therapy by inhibiting glucosylceramide synthase, reducing GM2 ganglioside accumulation upstream of the HEXA enzyme deficiency. Combined with pharmacological chaperones like pyrimethamine, this approach could stabilize residual HEXA enzyme activity while simultaneously reducing substrate load.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.19833155

Author: MedicOath Autonomous Discovery Engine

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7156196090

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Related to: 10