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ProteomicsIdentification of novel substrates of the human mitochondrial ClpXP protease: Implications to Perrault syndrome type 3
The ClpXP ATP-dependent unfoldase-protease complex plays important roles in maintaining protein homeostasis in the mitochondria. Pathogenic variants of CLPP have been identified in patients with Perrault syndrome type 3 (PRLTS3), a rare recessive mitochondrial disease characterized by sensorineural ...
ORGANISM(S): Homo sapiens (Human) 
2026-08-13 | PXD070104 | Pride
Human Timstof ht 
UnknownNew insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Not available
S-EPMC11330641 | biostudies-literature
UnknownBroadening the phenotype of the TWNK gene associated Perrault syndrome.
Not available
S-EPMC6921552 | biostudies-literature
UnknownDelayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.
Not available
S-EPMC10798831 | biostudies-literature
UnknownLARS2-Perrault syndrome: a new case report and literature review.
Not available
S-EPMC7236518 | biostudies-literature
UnknownMutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Not available
S-EPMC4248451 | biostudies-literature
UnknownTwo Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Not available
S-EPMC7564844 | biostudies-literature
UnknownMutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
Not available
S-EPMC2917704 | biostudies-literature
UnknownCLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.
Not available
S-EPMC12102955 | biostudies-literature
UnknownA homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
Not available
S-EPMC5568266 | biostudies-literature
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