Associated Papers
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Heath O et al.
Molecular Genetics and Metabolism, 2026
CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.
Mróz D et al.
Journal of Inherited Metabolic Disease, 2025
Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization.
Wu D et al.
Plos Biology, 2023
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Pronicka E et al.
Journal of Inherited Metabolic Disease, 2017
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Saunders C et al.
American Journal of Human Genetics, 2015
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