Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Biallelic pathogenic variants in <i>CLPP</i>, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing loss, often associated with prog...

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Bibliographic Details
Main Authors: Jana Key, Sylvia Torres-Odio, Nina C. Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A. Phillip West, Holger Prokisch, Peter Freisinger, William G. Newman, Stavit Shalev, Stephan A. Sieber, Ilka Wittig, Georg Auburger
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Cells
Subjects:
leukodystrophy
ataxia
Parkinson’s disease
HARS2
LARS2
TWNK
Online Access:https://www.mdpi.com/2073-4409/10/12/3354

Internet

https://www.mdpi.com/2073-4409/10/12/3354

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