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Article

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Human molecular genetics - 15 May 2018

Peter Bradley, Waddington Christie L, Oláhová Monika, Sommerville Ewen W, Hopton Sila, Pyle Angela, Champion Michael, Ohlson Monica, Siibak Triinu, Chrzanowska-Lightowlers Zofia M A, Taylor Robert W, Falkenberg Maria, Lightowlers Robert N

Abstract excerpt

LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease...

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Source

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Identifiers

PMID: 29518248
DOI: 10.1093/hmg/ddy080
PMCID: PMC5932559

Genes

LONP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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