Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human G_M1-Gangliosidosis.

ABSTRACT: G_M1-gangliosidosis is caused by a reduced activity of β-galactosidase (Glb1), resulting in intralysosomal accumulations of G_M1. The aim of this study was to reveal the pathogenic mechanisms of G_M1-gangliosidosis in a new Glb1 knockout mouse model. Glb1^-/- mice were analyzed clinically, histologically, immunohistochemically, electrophysiologically and biochemically. Morphological lesions in the central nervous system were already observed in two-month-old mice, whereas functional deficits, including ataxia and tremor, did not start before 3.5-months of age. This was most likely due to a reduced membrane resistance as a compensatory mechanism. Swollen neurons exhibited intralysosomal storage of lipids extending into axons and a

SUBMITTER: Eikelberg D 

PROVIDER: S-EPMC7230899 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature