Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the <i>GLA</i> gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-G...

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Bibliographic Details
Main Authors: Elisenda Cortés-Saladelafont, Julián Fernández-Martín, Saida Ortolano
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
Fabry disease
synapse
neurotransmitter
neurotransmission
lysosome
metabolism
Online Access:https://www.mdpi.com/1422-0067/24/6/5246

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