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Ruth I C Glasgow

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Recent Articles
1.
Smith T, Kopajtich R, Demain L, Rea A, Thomas H, Schiff M, et al.
Am J Hum Genet . 2024 Dec; 112(1):59-74. PMID: 39701103
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal...
2.
Smith T, Kopajtich R, Demain L, Rea A, Thomas H, Schiff M, et al.
medRxiv . 2024 Oct; PMID: 39371131
The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded...
3.
Thompson K, Collier J, Glasgow R, Robertson F, Pyle A, Blakely E, et al.
J Inherit Metab Dis . 2019 Apr; 43(1):36-50. PMID: 31021000
Mitochondrial disease is hugely diverse with respect to associated clinical presentations and underlying genetic causes, with pathogenic variants in over 300 disease genes currently described. Approximately half of these have...
4.
Perli E, Pisano A, Glasgow R, Carbo M, Hardy S, Falkous G, et al.
Sci Rep . 2019 Mar; 9(1):5108. PMID: 30911037
Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease. Here, we report an unusual presentation of mitochondrial cardiomyopathy,...
5.
Alston C, Heidler J, Dibley M, Kremer L, Taylor L, Fratter C, et al.
Am J Hum Genet . 2018 Sep; 103(4):592-601. PMID: 30245030
Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding...
6.
Glasgow R, Thompson K, Barbosa I, He L, Alston C, Deshpande C, et al.
Neurogenetics . 2017 Oct; 18(4):227-235. PMID: 29075935
Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage...