Associated Papers
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
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
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A et al.
Human Molecular Genetics, 2018
Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation.
Li S et al.
Stem Cell Reports, 2018
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M et al.
Metabolic Brain Disease, 2017
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
28334938 (PubMed )
Supplement: awx045_Supp.zip › brain-2016-01749-File006.pdf
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
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Baertling F et al.
Neurogenetics, 2015
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P et al.
European Journal of Human Genetics : Ejhg, 2011
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