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Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis

30 Nov 2023

Abstract excerpt

AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS). GM2A encodes a transport protein known as GM2 activator (GM2A) protein, which is essential for degrading GM2 into their GM3 form. ABGM2 presents in infantile-, juvenile-, and adult-onset forms; of...

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PMID: 38098938
DOI: 10.3389/fnmol.2023.1242814

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