Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 23, Issue 9, Pages 1705-1714
Publisher
Springer Science and Business Media LLC
Online
2021-06-18
DOI
10.1038/s41436-021-01194-x
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started