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Article

Inhibition of sphingolipid synthesis improves outcomes and survival in GARP mutant wobbler mice, a model of motor neuron degeneration.

Proceedings of the National Academy of Sciences of the United States of America - 12 May 2020

Petit Constance S, Lee Jane J, Boland Sebastian, Swarup Sharan, Christiano Romain, Lai Zon Weng, Mejhert Niklas, Elliott Shane D, McFall David, Haque Sara, Huang Eric J, Bronson Roderick T, Harper J Wade, Farese Robert V, Walther Tobias C

Abstract excerpt

Numerous mutations that impair retrograde membrane trafficking between endosomes and the Golgi apparatus lead to neurodegenerative diseases. For example, mutations in the endosomal retromer complex are implicated in Alzheimer's and Parkinson's diseases, and mutations of the Golgi-associated retrograde protein (GARP) complex cause progressive cerebello-cerebral atrophy type 2 (PCCA2). However, how these mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32345721
DOI: 10.1073/pnas.1913956117
PMCID: PMC7229683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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