Associated Papers
A novel likely pathogenic variant in the mitochondrial ribosomal protein L44 (MRPL44) associated with hypertrophic cardiomyopathy in Tunisian patients.
Gargouri R et al.
Molecular Biology Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Importance of conserved hydrophobic pocket region in yeast mitoribosomal mL44 protein for mitotranslation and transcript preference.
Box JM et al.
The Journal of Biological Chemistry, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Friederich MW et al.
Molecular Genetics and Metabolism, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Horga A et al.
Molecular Biology Reports, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB et al.
Human Molecular Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation.
Li S et al.
Stem Cell Reports, 2018
Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease.
Cao X et al.
Free Radical Biology & Medicine, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
Distelmaier F et al.
Neurogenetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS Capacity.
Yeo JH et al.
Plos One, 2015
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ et al.
Journal of Medical Genetics, 2013