Homozygous novel truncating variant of <i>CLPP</i> associated with severe Perrault syndrome-Reference-Cited by-同舟云学术

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

Published:2024-03-07 Issue:5 Volume:105 Page:584-586
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Faridi Rabia¹^ORCID,Stratton Pamela²,Salmeri Noemi³,Morell Robert J.⁴,Khan Asma Ali⁵,Usmani Muhammad A.⁶,Newman William G.⁷^ORCID,Riazuddin Sheikh⁶^ORCID,Friedman Thomas B.¹^ORCID

Affiliation:

1. Laboratory of Molecular Genetics NIDCD, NIH Bethesda Maryland USA

2. Office of the Clinical Director, Intramural Research Program NINDS, NIH Bethesda Maryland USA

3. Rehabilitation Medicine Department, Clinical Center NIH Bethesda Maryland USA

4. Genomics and Computational Biology Core NIDCD, NIH Bethesda Maryland USA

5. National Centre of Excellence in Molecular Biology University of the Punjab Lahore Pakistan

6. Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center University of Health Sciences Lahore Pakistan

7. Evolution, Infection and Genomics University of Manchester Manchester UK

Funder

Higher Education Commision, Pakistan

Medical Research Council

Manchester Biomedical Research Centre

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14514

Reference5 articles.

1. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

2. Mutations ofSGO2andCLDN14collectively cause coincidental Perrault syndrome

3. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

4. Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

5. Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

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1. Knockout Mouse Studies Show That Mitochondrial CLPP Peptidase and CLPX Unfoldase Act in Matrix Condensates near IMM, as Fast Stress Response in Protein Assemblies for Transcript Processing, Translation, and Heme Production;Genes;2024-05-27

2. Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis;Frontiers in Cell and Developmental Biology;2024-05-24