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Article

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Human molecular genetics - 15 Jan 2015

Sasarman Florin, Nishimura Tamiko, Antonicka Hana, Weraarpachai Woranontee, Shoubridge Eric A

Abstract excerpt

French Canadian Leigh Syndrome (LSFC) is an early-onset, progressive neurodegenerative disorder with a distinct pattern of tissue involvement. Most cases are caused by a founder missense mutation in LRPPRC. LRPPRC forms a ribonucleoprotein complex with SLIRP, another RNA-binding protein, and this stabilizes polyadenylated mitochondrial mRNAs. LSFC fibroblasts have reduced levels of LRPPRC and a specific complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25214534
DOI: 10.1093/hmg/ddu468
PMCID: PMC4275074

Genes

SLIRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.PMID 25214534Read ↗

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