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Article

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.

Disease models & mechanisms - 1 Jan 2017

Liu Pingting, Jiang Baichun, Ma Jian, Lin Pengfei, Zhang Yinshuai, Shao Changshun, Sun Wenjie, Gong Yaoqin

Abstract excerpt

The S113R mutation (c.339T>G) (MIM #603690.0001) in SLC33A1 (MIM #603690), an ER membrane acetyl-CoA transporter, has been previously identified in individuals with hereditary spastic paraplegia type 42 (SPG42; MIM #612539). SLC33A1 has also been shown to inhibit the bone morphogenetic protein (BMP) signaling pathway in zebrafish. To better understand the function of SLC33A1, we generated and characterized...

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Identifiers

PMID: 27935820
DOI: 10.1242/dmm.026880
PMCID: PMC5278525

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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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