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A Saposin deficiency model in <i>Drosophila</i> : lysosomal storage, progressive neurodegeneration, sensory physiological decline and defective calcium homeostasis

2016-10-06

Abstract excerpt

Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life. Saposins are activator proteins that promote the function of lysosomal hydrolases in the degradation of sphingolipids. There are four saposin proteins in humans, which are encoded by the prosaposin gene. Mutations causing an absence of individual saposins or the whole pr...

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Literature Corpus work
f06f20c9-ade2-57db-9859-ed2f173fef86
DOI
10.1101/078725
Open publication

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A Saposin deficiency model in <i>Drosophila</i> : lysosomal storage, progressive neurodegeneration, sensory physiological decline and defective calcium homeostasisDOI 10.1101/078725
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