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Items: 3

Select item 40469581.

Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

John W. Yarham, Tek N. Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L. Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A. Bindoff, Ileana Ferrero, Patrick F. Chinnery, Robert McFarland, Richard J. Maraia, Robert W. Taylor

PLoS Genet. 2014 Jun; 10(6): e1004424. Published online 2014 Jun 5. doi: 10.1371/journal.pgen.1004424

PMCID:: PMC4046958

Abstract Article PDF–3.3M

Select item 30620002.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Paulien Smits, Hana Antonicka, Peter M van Hasselt, Woranontee Weraarpachai, Wolfram Haller, Marieke Schreurs, Hanka Venselaar, Richard J Rodenburg, Jan A Smeitink, Lambert P van den Heuvel

Eur J Hum Genet. 2011 Mar; 19(3): 275–279. Published online 2010 Dec 1. doi: 10.1038/ejhg.2010.208

PMCID:: PMC3062000

Abstract Article PDF–358K

Select item 30603263.

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

Paulien Smits, Ann Saada, Saskia B Wortmann, Angelien J Heister, Maaike Brink, Rolph Pfundt, Chaya Miller, Dorothea Haas, Ralph Hantschmann, Richard J T Rodenburg, Jan A M Smeitink, Lambert P van den Heuvel

Eur J Hum Genet. 2011 Apr; 19(4): 394–399. Published online 2010 Dec 29. doi: 10.1038/ejhg.2010.214