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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/ana.20282openalex-snapshot

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

inferredcites →https://doi.org/10.1016/0009-8981(94)90055-8openalex-snapshot

Biochemical and molecular investigations in respiratory chain deficiencies

inferredcites →https://doi.org/10.1016/j.ajhg.2009.08.004openalex-snapshot

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

inferredcites →https://doi.org/10.1016/j.ajhg.2010.06.001openalex-snapshot

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

inferredcites →https://doi.org/10.1016/j.ajhg.2010.06.004openalex-snapshot

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

inferredcites →https://doi.org/10.1016/j.ajhg.2010.09.013openalex-snapshot

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

inferredcites →https://doi.org/10.1016/j.ajhg.2010.12.010openalex-snapshot

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

inferredcites →https://doi.org/10.1016/j.cell.2005.08.003openalex-snapshot

The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria

inferredcites →https://doi.org/10.1016/s1046-2023(02)00038-5openalex-snapshot

Blue Native electrophoresis to study mitochondrial and other protein complexes

inferredcites →https://doi.org/10.1038/15513openalex-snapshot

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

inferredcites →https://doi.org/10.1038/ejhg.2010.214openalex-snapshot

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

inferredcites →https://doi.org/10.1038/ng0496-385openalex-snapshot

A novel X-linked gene, G4.5. is responsible for Barth syndrome

inferredcites →https://doi.org/10.1038/ng1776openalex-snapshot

Systematic identification of human mitochondrial disease genes through integrative genomics

inferredcites →https://doi.org/10.1038/ng2013openalex-snapshot

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

inferredcites →https://doi.org/10.1038/nsmb1271openalex-snapshot

Structural basis for aminoglycoside inhibition of bacterial ribosome recycling

inferredcites →https://doi.org/10.1056/nejmoa041878openalex-snapshot

Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

inferredcites →https://doi.org/10.1073/pnas.1103471108openalex-snapshot

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

inferredcites →https://doi.org/10.1086/421530openalex-snapshot

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

inferredcites →https://doi.org/10.1086/508434openalex-snapshot

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

inferredcites →https://doi.org/10.1086/510559openalex-snapshot

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

inferredcites →https://doi.org/10.1086/521227openalex-snapshot

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

inferredcites →https://doi.org/10.1093/hmg/ddl106openalex-snapshot

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

inferredcites →https://doi.org/10.1093/nar/gkn642openalex-snapshot

Ribosomal protein L3 functions as a ‘rocker switch’ to aid in coordinating of large subunit-associated functions in eukaryotes and Archaea

inferredcites →https://doi.org/10.1111/j.1742-4658.2005.04651.xopenalex-snapshot

The social life of ribosomal proteins

inferredcites →https://doi.org/10.1126/science.271.5254.1423openalex-snapshot

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

inferredcites →https://doi.org/10.1136/jmg.2007.053116openalex-snapshot

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4647442openalex-extracted

Mrpl42 Attenuates Myocardial Ischemia/Reperfusion Injury by Regulating Mitochondrial Translation Function

inferred← citeshttps://doi.org/10.1002/1873-3468.14024openalex-snapshot

The Diseased Mitoribosome

inferred← citeshttps://doi.org/10.1002/ajmg.a.62344openalex-snapshot

COXPD9 in an individual from Puerto Rico and literature review

inferred← citeshttps://doi.org/10.1002/humu.22098openalex-snapshot

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

inferred← citeshttps://doi.org/10.1002/jimd.12104openalex-snapshot

Recent advances in understanding the molecular genetic basis of mitochondrial disease

inferred← citeshttps://doi.org/10.1002/path.4809openalex-snapshot

The genetics and pathology of mitochondrial disease

inferred← citeshttps://doi.org/10.1007/8904_2016_13openalex-snapshot

COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis

inferred← citeshttps://doi.org/10.1007/978-1-4614-7001-4_12openalex-snapshot

Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders

inferred← citeshttps://doi.org/10.1007/978-1-4939-1221-6_1openalex-snapshot

Evolutionary Conservation and Expression of Human RNA-Binding Proteins and Their Role in Human Genetic Disease

inferred← citeshttps://doi.org/10.1007/978-3-030-27371-2_3openalex-snapshot

Genetic Basis of Mitochondrial Cardiomyopathy

inferred← citeshttps://doi.org/10.1007/978-3-030-70147-5_4openalex-snapshot

Mitochondrial Translation Deficiencies

inferred← citeshttps://doi.org/10.1007/978-3-319-19674-9_10openalex-snapshot

Mitochondrial Disorders

inferred← citeshttps://doi.org/10.1007/s00395-021-00889-1openalex-snapshot

Mitochondrial nucleoid in cardiac homeostasis: bidirectional signaling of mitochondria and nucleus in cardiac diseases

inferred← citeshttps://doi.org/10.1007/s00439-023-02563-zopenalex-snapshot

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

inferred← citeshttps://doi.org/10.1007/s00441-016-2456-0openalex-snapshot

The process of mammalian mitochondrial protein synthesis

inferred← citeshttps://doi.org/10.1007/s10048-015-0444-2openalex-snapshot

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

inferred← citeshttps://doi.org/10.1007/s10048-017-0526-4openalex-snapshot

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

inferred← citeshttps://doi.org/10.1007/s10545-015-9823-yopenalex-snapshot

Whole exome sequencing of suspected mitochondrial patients in clinical practice

inferred← citeshttps://doi.org/10.1007/s10545-015-9831-yopenalex-snapshot

Spectrum of combined respiratory chain defects

inferred← citeshttps://doi.org/10.1007/s10741-020-10009-1openalex-snapshot

Cardiac complications in inherited mitochondrial diseases

inferred← citeshttps://doi.org/10.1007/s11033-021-06188-1openalex-snapshot

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

inferred← citeshttps://doi.org/10.1007/s11684-014-0303-9openalex-snapshot

Exome sequencing greatly expedites the progressive research of Mendelian diseases

inferred← citeshttps://doi.org/10.1007/s11825-012-0348-6openalex-snapshot

Exomdiagnostik verändert die Sicht auf Mitochondriopathien

inferred← citeshttps://doi.org/10.1007/s12672-025-03770-yopenalex-snapshot

Expressions, immune associations, and prognostic values of mitochondrial ribosomal protein MRPL3 in the pan cancer landscape

inferred← citeshttps://doi.org/10.1007/s13311-012-0170-5openalex-snapshot

Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories

inferred← citeshttps://doi.org/10.1007/s40142-012-0002-2openalex-snapshot

Recent Developments in the Genetics of Cardiomyopathies

inferred← citeshttps://doi.org/10.1016/b978-0-12-394287-6.00002-1openalex-snapshot

Next Generation Sequencing in the Clinical Domain: Clinical Advantages, Practical, and Ethical Challenges

inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.99576-xopenalex-snapshot

OBSOLETE: Bioinformatics Principles for Deciphering Cardiovascular Diseases

inferred← citeshttps://doi.org/10.1016/b978-0-12-801739-5.00010-6openalex-snapshot

Clinical Applications for Next Generation Sequencing in Cardiology

inferred← citeshttps://doi.org/10.1016/b978-0-12-809657-4.99576-0openalex-snapshot

Bioinformatics Principles for Deciphering Cardiovascular Diseases

inferred← citeshttps://doi.org/10.1016/b978-0-12-819656-4.00015-2openalex-snapshot

Nuclear genetic disorders of mitochondrial DNA gene expression

inferred← citeshttps://doi.org/10.1016/b978-0-443-10944-7.00064-0openalex-snapshot

Mitochondrial Diseases

inferred← citeshttps://doi.org/10.1016/bs.adgen.2017.06.002openalex-snapshot

Genetics of Mitochondrial Disease

inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.08.019openalex-snapshot

Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.07.005openalex-snapshot

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.02.012openalex-snapshot

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

inferred← citeshttps://doi.org/10.1016/j.ajhg.2025.02.005openalex-snapshot

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

inferred← citeshttps://doi.org/10.1016/j.bbadis.2013.04.014openalex-snapshot

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

inferred← citeshttps://doi.org/10.1016/j.bbagen.2022.130255openalex-snapshot

Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans

inferred← citeshttps://doi.org/10.1016/j.biocel.2013.12.011openalex-snapshot

Mitochondria: Impaired mitochondrial translation in human disease

inferred← citeshttps://doi.org/10.1016/j.biocel.2014.05.011openalex-snapshot

Mitochondria: Unusual features of the mammalian mitoribosome

inferred← citeshttps://doi.org/10.1016/j.biochi.2013.08.024openalex-snapshot

The effect of small molecules on nuclear-encoded translation diseases

inferred← citeshttps://doi.org/10.1016/j.biochi.2022.11.001openalex-snapshot

Molecular etiology of defective nuclear and mitochondrial ribosome biogenesis: Clinical phenotypes and therapy

inferred← citeshttps://doi.org/10.1016/j.cellsig.2024.111482openalex-snapshot

Decreased Mrpl42 expression exacerbates myocardial ischemia and reperfusion injury by inhibiting mitochondrial translation

inferred← citeshttps://doi.org/10.1016/j.cjca.2015.08.017openalex-snapshot

Mitochondrial Diseases and Cardiomyopathies

inferred← citeshttps://doi.org/10.1016/j.cmet.2018.01.012openalex-snapshot

Yeast Mitoribosome Large Subunit Assembly Proceeds by Hierarchical Incorporation of Protein Clusters and Modules on the Inner Membrane

inferred← citeshttps://doi.org/10.1016/j.compbiolchem.2024.108246openalex-snapshot

Gene expression profiling in Venous thromboembolism: Insights from publicly available datasets

inferred← citeshttps://doi.org/10.1016/j.freeradbiomed.2016.04.010openalex-snapshot

Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease

inferred← citeshttps://doi.org/10.1016/j.gep.2020.119147openalex-snapshot

Expression analysis of mammalian mitochondrial ribosomal protein genes

inferred← citeshttps://doi.org/10.1016/j.ijcard.2014.11.014openalex-snapshot

Cardiac manifestations of primary mitochondrial disorders

inferred← citeshttps://doi.org/10.1016/j.isci.2024.110185openalex-snapshot

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

inferred← citeshttps://doi.org/10.1016/j.jacc.2012.12.054openalex-snapshot

Genomics in Cardiovascular Disease

inferred← citeshttps://doi.org/10.1016/j.mcn.2012.08.013openalex-snapshot

Mitochondrial diseases: Translation matters

inferred← citeshttps://doi.org/10.1016/j.mito.2013.02.001openalex-snapshot

Next generation molecular diagnosis of mitochondrial disorders

inferred← citeshttps://doi.org/10.1016/j.mito.2015.08.004openalex-snapshot

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease

inferred← citeshttps://doi.org/10.1016/j.mito.2018.08.005openalex-snapshot

Mitochondrial dysfunction caused by m.2336T>C mutation with hypertrophic cardiomyopathy in cybrid cell lines

inferred← citeshttps://doi.org/10.1016/j.nbd.2020.104880openalex-snapshot

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

inferred← citeshttps://doi.org/10.1016/j.neurol.2013.11.006openalex-snapshot

Genetics of mitochondrial respiratory chain deficiencies

inferred← citeshttps://doi.org/10.1016/j.stem.2022.03.003openalex-snapshot

Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease

inferred← citeshttps://doi.org/10.1016/j.stemcr.2018.01.013openalex-snapshot

Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation

inferred← citeshttps://doi.org/10.1016/j.tcb.2020.12.008openalex-snapshot

Role of GTPases in Driving Mitoribosome Assembly

inferred← citeshttps://doi.org/10.1016/j.trsl.2026.09.009openalex-snapshot

Therapeutic Co-targeting of oxidative phosphorylation and pyrimidine synthesis restores gemcitabine response in pancreatic ductal adenocarcinoma

inferred← citeshttps://doi.org/10.1016/j.ygeno.2016.06.003openalex-snapshot

Exome sequencing a review of new strategies for rare genomic disease research

inferred← citeshttps://doi.org/10.1016/j.yjmcc.2019.01.025openalex-snapshot

Novel role of mitochondrial GTPases 1 in pathological cardiac hypertrophy

inferred← citeshttps://doi.org/10.1016/j.ymgme.2013.12.010openalex-snapshot

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

inferred← citeshttps://doi.org/10.1016/s0735-1097(13)60594-xopenalex-snapshot

WHOLE EXOME SEQUENCING IDENTIFIES A TROPONIN T MUTATION HOT SPOT IN FAMILIAL DILATED CARDIOMYOPATHY

inferred← citeshttps://doi.org/10.1038/ejhg.2014.192openalex-snapshot

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

inferred← citeshttps://doi.org/10.1038/ejhg.2017.20openalex-snapshot

A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations

inferred← citeshttps://doi.org/10.1038/jhg.2012.91openalex-snapshot

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

inferred← citeshttps://doi.org/10.1038/jhg.2013.114openalex-snapshot

The promise of whole-exome sequencing in medical genetics

inferred← citeshttps://doi.org/10.1038/nrm4051openalex-snapshot

Integrating mitochondrial translation into the cellular context

inferred← citeshttps://doi.org/10.1038/s41419-018-0396-1openalex-snapshot

Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells

inferred← citeshttps://doi.org/10.1038/s41525-026-00564-1openalex-snapshot

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics

inferred← citeshttps://doi.org/10.1038/s41598-019-41362-3openalex-snapshot

A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function

inferred← citeshttps://doi.org/10.1042/bcj20190767openalex-snapshot

Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome

inferred← citeshttps://doi.org/10.1042/ebc20170103openalex-snapshot

Mitochondrial DNA transcription and translation: clinical syndromes

inferred← citeshttps://doi.org/10.1055/s-0038-1661396openalex-snapshot

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

inferred← citeshttps://doi.org/10.1073/pnas.1117835108openalex-snapshot

Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet

inferred← citeshttps://doi.org/10.1073/pnas.1403234111openalex-snapshot

Forward genetic screens in mice uncover mediators and suppressors of metastatic reactivation

inferred← citeshttps://doi.org/10.1074/jbc.c114.581868openalex-snapshot

Assignment of 2′-O-Methyltransferases to Modification Sites on the Mammalian Mitochondrial Large Subunit 16 S Ribosomal RNA (rRNA)

inferred← citeshttps://doi.org/10.1080/07853890.2017.1392595openalex-snapshot

Next generation sequencing applications for cardiovascular disease

inferred← citeshttps://doi.org/10.1080/15384101.2015.1053672openalex-snapshot

Mitochondrial ribosome assembly in health and disease

inferred← citeshttps://doi.org/10.1080/15476286.2019.1690099openalex-snapshot

Translation initiation in mammalian mitochondria- a prokaryotic perspective

inferred← citeshttps://doi.org/10.1080/15592294.2025.2576069openalex-snapshot

The multifaceted role of lactate in cardiovascular health: from metabolism to signaling and epigenetics

inferred← citeshttps://doi.org/10.1089/ars.2019.7997openalex-snapshot

The Mitochondrial Ribosome: A World of Opportunities for Mitochondrial Dysfunction Toward Parkinson's Disease

inferred← citeshttps://doi.org/10.1093/bmb/ldt017openalex-snapshot

Mitochondrial genetics

inferred← citeshttps://doi.org/10.1093/hmg/ddad069openalex-snapshot

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

inferred← citeshttps://doi.org/10.1093/hmg/ddae020openalex-snapshot

Illuminating mitochondrial translation through mouse models

inferred← citeshttps://doi.org/10.1093/hmg/ddt490openalex-snapshot

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential

inferred← citeshttps://doi.org/10.1093/hmg/ddu747openalex-snapshot

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

inferred← citeshttps://doi.org/10.1093/hmg/ddw176openalex-snapshot

Mouse models for mitochondrial diseases

inferred← citeshttps://doi.org/10.1093/hmg/ddy374openalex-snapshot

A variant inMRPS14(uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

inferred← citeshttps://doi.org/10.1093/hmg/ddy441openalex-snapshot

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

inferred← citeshttps://doi.org/10.1093/hmg/ddz093openalex-snapshot

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

inferred← citeshttps://doi.org/10.1093/nar/gkt079openalex-snapshot

Human G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexes

inferred← citeshttps://doi.org/10.1097/hco.0b013e328352207eopenalex-snapshot

Next-generation sequencing to identify genetic causes of cardiomyopathies

inferred← citeshttps://doi.org/10.1097/mop.0000000000000535openalex-snapshot

Pediatric mitochondrial diseases and the heart

inferred← citeshttps://doi.org/10.1101/2021.05.09.443165openalex-snapshot

iPSC modeling shows uncompensated mitochondrial mediated oxidative stress underlies early heart failure in hypoplastic left heart syndrome

inferred← citeshttps://doi.org/10.1101/2025.09.24.678132openalex-snapshot

Nutrient-dependent pathology in mitochondrial hypertrophic cardiomyopathy model

inferred← citeshttps://doi.org/10.1111/bph.12469openalex-snapshot

Next‐generation sequencing for mitochondrial disorders

inferred← citeshttps://doi.org/10.1126/science.1258026openalex-snapshot

Structure of the large ribosomal subunit from human mitochondria

inferred← citeshttps://doi.org/10.1136/jmedgenet-2012-101375openalex-snapshot

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

inferred← citeshttps://doi.org/10.1136/jmedgenet-2013-101818openalex-snapshot

The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy

inferred← citeshttps://doi.org/10.1146/annurev-biochem-060815-014343openalex-snapshot

Structure and Function of the Mitochondrial Ribosome

inferred← citeshttps://doi.org/10.1146/annurev-genom-091416-035426openalex-snapshot

Recent Advances in Mitochondrial Disease

inferred← citeshttps://doi.org/10.1146/annurev-med-051010-162644openalex-snapshot

Human Genome Sequencing in Health and Disease

inferred← citeshttps://doi.org/10.1159/000480089openalex-snapshot

Next-Generation Sequencing in Diagnostic Pathology

inferred← citeshttps://doi.org/10.1186/s12014-022-09369-7openalex-snapshot

Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.1186/s12863-022-01057-7openalex-snapshot

Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene

inferred← citeshttps://doi.org/10.1186/s12902-021-00924-1openalex-snapshot

Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report

inferred← citeshttps://doi.org/10.1186/s12953-016-0111-zopenalex-snapshot

Overgrazing induces alterations in the hepatic proteome of sheep (Ovis aries): an iTRAQ-based quantitative proteomic analysis

inferred← citeshttps://doi.org/10.1212/wnl.0000000000000716openalex-snapshot

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

inferred← citeshttps://doi.org/10.1371/journal.pgen.1005062openalex-snapshot

Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

inferred← citeshttps://doi.org/10.1371/journal.pone.0078104openalex-snapshot

Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

inferred← citeshttps://doi.org/10.1523/jneurosci.0013-20.2020openalex-snapshot

Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse

inferred← citeshttps://doi.org/10.15698/cst2018.07.147openalex-snapshot

Mitochondrial dysfunction and its role in tissue-specific cellular stress

inferred← citeshttps://doi.org/10.1586/14737159.2014.904749openalex-snapshot

Next-generation sequencing applied to rare diseases genomics

inferred← citeshttps://doi.org/10.1586/erm.11.85openalex-snapshot

How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care

inferred← citeshttps://doi.org/10.2147/jir.s495987openalex-snapshot

Role and Mechanism of Mitochondrial Ribosomal Proteins in Septic Myocardial Injury

inferred← citeshttps://doi.org/10.25100/cm.v50i3.3969openalex-snapshot

Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

inferred← citeshttps://doi.org/10.3389/fcell.2021.675465openalex-snapshot

Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease

inferred← citeshttps://doi.org/10.3389/fcell.2023.1290046openalex-snapshot

Mitochondrial quality control in health and cardiovascular diseases

inferred← citeshttps://doi.org/10.3389/fcell.2024.1410245openalex-snapshot

Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis

inferred← citeshttps://doi.org/10.3389/fcvm.2016.00025openalex-snapshot

Mitochondrial Cardiomyopathies

inferred← citeshttps://doi.org/10.3389/fgene.2015.00021openalex-snapshot

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

inferred← citeshttps://doi.org/10.3389/fimmu.2023.1220028openalex-snapshot

Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza

inferred← citeshttps://doi.org/10.3389/fonc.2024.1511958openalex-snapshot

Multiomic analysis of lactylation and mitochondria-related genes in hepatocellular carcinoma identified MRPL3 as a new prognostic biomarker

inferred← citeshttps://doi.org/10.3389/fphys.2013.00183openalex-snapshot

Identification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome

inferred← citeshttps://doi.org/10.3389/fpsyt.2016.00011openalex-snapshot

Functional Evaluations of Genes Disrupted in Patients with Tourette’s Disorder

inferred← citeshttps://doi.org/10.3390/biology14101364openalex-snapshot

Molecular Mechanisms Underlying Differences in Athletic Ability in Racehorses Based on Whole Transcriptome Sequencing

inferred← citeshttps://doi.org/10.3390/biology2010378openalex-snapshot

Next-Generation Sequencing: From Understanding Biology to Personalized Medicine

inferred← citeshttps://doi.org/10.3390/genes13112113openalex-snapshot

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

inferred← citeshttps://doi.org/10.3390/ijms20184381openalex-snapshot

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies

inferred← citeshttps://doi.org/10.3390/ijms21228879openalex-snapshot

Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases

inferred← citeshttps://doi.org/10.3390/ijms22083827openalex-snapshot

Human Mitoribosome Biogenesis and Its Emerging Links to Disease

inferred← citeshttps://doi.org/10.3390/ijms22084100openalex-snapshot

The Antibiotic Doxycycline Impairs Cardiac Mitochondrial and Contractile Function

inferred← citeshttps://doi.org/10.3390/ijms22115742openalex-snapshot

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

inferred← citeshttps://doi.org/10.3892/ijo.2018.4468openalex-snapshot

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

inferred← citeshttps://doi.org/10.53846/goediss-8315openalex-snapshot

Insights into the biogenesis of the human mitochondrial ribosomal large subunit – Characterisation of mL44 and mL45

inferred← citeshttps://doi.org/10.6001/actamedica.v20i1.2626openalex-snapshot

Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases

inferred← citeshttps://doi.org/10.6084/m9.figshare.20004596openalex-snapshot

Additional file 1 of Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626424openalex-snapshot

Additional file 1 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626427openalex-snapshot

Additional file 2 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626430openalex-snapshot

Additional file 3 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626433openalex-snapshot

Additional file 4 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626436openalex-snapshot

Additional file 5 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626439openalex-snapshot

Additional file 6 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.6084/m9.figshare.20626442openalex-snapshot

Additional file 7 of Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde

inferred← citeshttps://doi.org/10.64898/2026.01.14.699555openalex-snapshot

LONP-1 deficiency causes dysregulated protein synthesis within mitochondria that is restored by mitoribosomal mutations

inferred← citeshttps://doi.org/10.70675/5eaca89az9b6az4b80z9614z08ea32bd2ac6openalex-snapshot

High-throughput mitochondrial morphology screen identifies PGS1 as a functional suppressor of mitochondrial fragmentation in patient-derived OPA1 mutant fibroblasts

inferred← citeshttps://doi.org/10.70675/d8fe07c7z1083z474dzae3bzf3d89e2a866dopenalex-snapshot

Caractérisation génétique des atteintes hépatiques mitochondriales

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