Associated Papers
Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.
Fetterman JL et al.
Circulation, 2025
A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions.
Carney OS et al.
Molecular Genetics and Metabolism, 2025
Altered Fibroblast Glutamine Metabolism Is Linked to the Severity of Cardiac Dysfunction in DCMA, a Mitochondrial Cardiomyopathy.
King MA et al.
Journal of Inherited Metabolic Disease, 2025
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A et al.
Molecular Metabolism, 2024
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.
Papadopoulou-Legbelou K et al.
Case Reports in Genetics, 2024
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
Al Tuwaijri A et al.
Molecular Genetics & Genomic Medicine, 2022
Mitochondrial Protein Homeostasis and Cardiomyopathy.
Wachoski-Dark E et al.
International Journal of Molecular Sciences, 2022
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
Machiraju P et al.
Journal of Inherited Metabolic Disease, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Recent Advances in Modeling Mitochondrial Cardiomyopathy Using Human Induced Pluripotent Stem Cells.
Pavez-Giani MG et al.
Frontiers in Cell and Developmental Biology, 2021
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A et al.
Stem Cell Research, 2020
Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.
Heinemeyer T et al.
Dna and Cell Biology, 2019
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.
Machiraju P et al.
Frontiers in Cardiovascular Medicine, 2019
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
Al Teneiji A et al.
Pediatric Neurology, 2016
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
An estimate of the average number of recessive lethal mutations carried by humans.
Gao Z et al.
Genetics, 2015
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX et al.
American Journal of Human Genetics, 2012
Mitochondrial ataxias.
Finsterer J
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2009
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2008
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
Benson MD et al.
Ophthalmic Genetics, 0