Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease

(2020) Dagmara Mróz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor

(2020) Saskia B Wortmann et al.   BLOOD

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

(2020) Lisa G. Riley et al.   GENETICS IN MEDICINE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations

(2020) Ryan R Cupo et al.   eLife

Mitochondrial DNA mutation analysis from exome sequencing – a more holistic approach in diagnostics of suspected mitochondrial disease

(2019) Matias Wagner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Targeting mitochondrial structure sensitizes acute myeloid leukemia to Venetoclax treatment

(2019) Xufeng Chen et al.   Cancer Discovery

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

(2019) Rocio Rius et al.   GENETICS IN MEDICINE

Two-Step Activation Mechanism of the ClpB Disaggregase for Sequential Substrate Threading by the Main ATPase Motor

(2019) Célia Deville et al.   Cell Reports

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy—Report of 11 Patients

(2018) Gilles Morin et al.   NEUROPEDIATRICS

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

(2017) Ewa Pronicka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ratchet-like polypeptide translocation mechanism of the AAA+ disaggregase Hsp104

(2017) Stephanie N. Gates et al.   SCIENCE

Severe congenital neutropenias

(2017) Julia Skokowa et al.   Nature Reviews Disease Primers

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

(2016) Tamar Harel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

(2015) Saskia B. Wortmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption ofCLPBis associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

(2015) José-Mario Capo-Chichi et al.   JOURNAL OF MEDICAL GENETICS

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygousOPA1mutation

(2015) Ronen Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Inherited biallelic CSF3R mutations in severe congenital neutropenia

(2014) A. Triot et al.   BLOOD

Conserved Distal Loop Residues in the Hsp104 and ClpB Middle Domain Contact Nucleotide-binding Domain 2 and Enable Hsp70-dependent Protein Disaggregation

(2013) Morgan E. DeSantis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Operational Plasticity Enables Hsp104 to Disaggregate Diverse Amyloid and Nonamyloid Clients

(2012) Morgan E. DeSantis et al.   CELL

HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI

(2010) Kaan Boztug et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chaperones in control of protein disaggregation

(2008) Krzysztof Liberek et al.   EMBO JOURNAL