Ala Transfer RNA

10/31/2008 - "Editing repairs the confusion of serine and glycine for alanine through clearance of mischarged (with Ser or Gly) tRNA(Ala). "

01/01/2016 - "The data provide evidence for the association of the tRNA(Ala) 5655A → G mutation with hypertension."
01/01/2016 - "In this report, we investigated the pathophysiology of a novel hypertension-associated mitochondrial tRNA(Ala) 5655A → G (m.5655A → G) mutation. "
03/01/2019 - "Therefore, mt-tRNAAla 5587T>C and tRNALeu(CUN) 12280A>G mutations may be involved in the pathogenesis of hypertension in this family."
03/01/2019 - "The mitochondrial tRNAAla 5587T>C and tRNALeu(CUN) 12280A>G mutations may be associated with hypertension in a Chinese family."
01/01/2018 - "Mitochondrial tRNAAla C5601T mutation may modulate the clinical expression of tRNAMet A4435G mutation in a Han Chinese family with hypertension."

12/01/2015 - "To address this problem, in this study, we reassessed seven reported mt-tRNA variants: tRNAAsp G7521A, tRNAArg T10411C and T10463C, tRNALeu(CUN) A12308G, tRNAIle G4292C and C4312T, and tRNAAla T5655C, in clinical manifestations of thyroid cancer. "

01/01/2011 - "A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia."
03/01/2016 - "A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease."
09/15/2012 - "We identified a double mutation in a patient with chronic progressive external ophthalmoplegia, located in the tRNA(Ala) (m.5628T>C) and tRNA(Lys) (m.8348A>G) genes. "
07/01/2001 - "We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. "

12/01/2015 - "We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. "
12/01/2015 - "Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy."
01/01/2008 - "The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy."
01/01/2008 - "This pure myopathy has been caused by a mutation (m.5650G>A) in the mt-tRNA(Ala) gene that has been reported only once previously in a patient with CADASIL where the phenotype was dominated by neurological complications. "
02/01/2007 - "We have previously described a patient with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) caused by R133C mutation in NOTCH3 and with a concomitant myopathy caused by a G to A point mutation at base pair 5650 (5650G>A) in the gene encoding tRNA(Ala) in mitochondrial DNA (mtDNA). "