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Article

Perrault syndrome type 3 caused by diverse molecular defects in CLPP.

Scientific reports - 27 Aug 2018

Brodie Erica J, Zhan Hanmiao, Saiyed Tamanna, Truscott Kaye N, Dougan David A

Abstract excerpt

The maintenance of mitochondrial protein homeostasis (proteostasis) is crucial for correct cellular function. Recently, several mutations in the mitochondrial protease CLPP have been identified in patients with Perrault syndrome 3 (PRLTS3). These mutations can be arranged into two groups, those that cluster near the docking site (hydrophobic pocket, Hp) for the cognate unfoldase CLPX (i.e. T145P and C147S) and...

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Share to Endopeptidase Clp
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hearing Loss, Sensorineural

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Source

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Identifiers

PMID: 30150665
DOI: 10.1038/s41598-018-30311-1
PMCID: PMC6110781

Genes

CLPP
CLPX

Variants

Provenance

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.

Related research

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