Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
Ahmad B et al.
International Journal of Biological Macromolecules, 2025
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.
Antolínez-Fernández Á et al.
Frontiers in Cell and Developmental Biology, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.
Aleksic D et al.
The Turkish Journal of Pediatrics, 2023
A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.
You C et al.
Brain and Behavior, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Simon MT et al.
Mitochondrion, 2017
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
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.
Ravn K et al.
Molecular Genetics and Metabolism Reports, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Brito S et al.
Frontiers in Genetics, 2015
Toward genotype phenotype correlations in GFM1 mutations.
Galmiche L et al.
Mitochondrion, 2012
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.
Balasubramaniam S et al.
Jimd Reports, 2012
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Smits P et al.
European Journal of Human Genetics : Ejhg, 2011