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
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
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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