Associated Papers
Molecular Aspects of Mitochondrial Dysfunction in Diabetes, Pearson and Kearns-Sayre Syndromes, and Neurodegenerative Disorders.
Shafiee A et al.
International Journal of General Medicine, 2025
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
tRNA-derived fragments are altered in diabetes.
Ng N et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2024
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Mitochondrial disease and endocrine dysfunction.
Chow J et al.
Nature Reviews. Endocrinology, 2017
Role of mitochondrial DNA variation in the pathogenesis of diabetes mellitus.
Kwak SH et al.
Frontiers in Bioscience (landmark Edition), 2016
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
Perli E et al.
Embo Molecular Medicine, 2014
Coronary heart disease is associated with a mutation in mitochondrial tRNA.
Jia Z et al.
Human Molecular Genetics, 2013
Pathogenesis of the metabolic syndrome: insights from monogenic disorders.
Murphy R et al.
Mediators of Inflammation, 2013
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.
Bates MG et al.
European Heart Journal, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platform.
Elson JL et al.
Human Mutation, 2012
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Perli E et al.
Human Molecular Genetics, 2012
Mitochondrial and nuclear gene mutations in the type 2 diabetes patients of Coimbatore population.
Vijaya Padma V et al.
Molecular and Cellular Biochemistry, 2010
Mitochondrial dysfunction: glucokinase downregulation lowers interaction of glucokinase with mitochondria, resulting in apoptosis of pancreatic beta-cells.
Lee JW et al.
Cellular Signalling, 2009
Mitochondrial tRNA mutations: clinical and functional perturbations.
Zifa E et al.
Rna Biology, 0
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