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Article

Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases.

Disease models & mechanisms - 1 Jun 2017

Sellin Julia, Schulze Heike, Paradis Marie, Gosejacob Dominic, Papan Cyrus, Shevchenko Andrej, Psathaki Olympia Ekaterina, Paululat Achim, Thielisch Melanie, Sandhoff Konrad, Hoch Michael

Abstract excerpt

Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs), which are characterized by the accumulation of indigestible material in the lysosome caused by specific defects in the lysosomal degradation machinery. While some LSDs can be efficiently treated by enzyme replacement therapy (ERT), this is not possible if the nervous system is affected due to the presence of the...

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Identifiers

PMID: 28389479
DOI: 10.1242/dmm.027953
PMCID: PMC5483003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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