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
Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.
Marti S et al.
Hemasphere, 2025
40510848 (PubMed )
Supplement: HEM3-9-e70150-s002.xlsx › S1
CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.
Mróz D et al.
Journal of Inherited Metabolic Disease, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1
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
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB et al.
American Journal of Human Genetics, 2015
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