Articles with "lysosomal abnormalities" as a keyword



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SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction

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Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac063

Abstract: Abstract Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link between lysosomal aberrations and neuronal death is poorly… read more here.

Keywords: lysosomal abnormalities; spg15 protein; lipid metabolism; synaptic dysfunction ... See more keywords