|1.||Garesse, Rafael: 2 articles (05/2015 - 05/2005)|
|2.||Shimizu, Akinori: 2 articles (03/2015 - 02/2014)|
|3.||Mito, Takayuki: 2 articles (03/2015 - 02/2014)|
|4.||Hayashi, Jun-Ichi: 2 articles (03/2015 - 02/2014)|
|5.||Nakada, Kazuto: 2 articles (03/2015 - 02/2014)|
|6.||Blakely, Emma L: 2 articles (06/2014 - 09/2007)|
|7.||Taylor, Robert W: 2 articles (06/2014 - 09/2007)|
|8.||Turnbull, Douglass M: 2 articles (06/2014 - 09/2007)|
|9.||Houshmand, Massoud: 2 articles (01/2012 - 06/2011)|
|10.||Horvath, Rita: 2 articles (12/2011 - 01/2007)|
|1.||Myoclonic Epilepsies (Myoclonic Encephalopathy)
06/01/2007 - "MERRF (epilepsy myoclonus with ragged red fibers) has been related to mutation A8344G and A8566G of tRNA Lys. "
01/14/2005 - "We previously found that the mt tRNA(Lys), carrying the A8344G mutation from cells of patients with myoclonus epilepsy associated with ragged-red fibers (MERRF), lacks the taum5s2U modification. "
12/01/2003 - "In a case of childhood-onset myoclonus epilepsy with "ragged-red fibers" (MERRF), a hitherto unreported mutation within the mitochondrial tRNA(Lys) gene was identified as the cause of the disease. "
08/25/2000 - "In a first application of this method, we studied mitochondrial particles from fibroblast cells heteroplasmic for the tRNA lys(8344) point mutation, associated with myoclonus epilepsy and ragged red fiber (MERRF). "
03/01/1997 - "Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families."
|2.||MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/01/2014 - "The m.8344A>G mutation in the mt-tRNA(Lys) gene, first described in myoclonic epilepsy and ragged red fibers (MERRF), accounts for approximately 80% of mutations in individuals with MERRF syndrome. "
12/01/2011 - "A mutation in tRNA(Lys) that causes myoclonic epilepsy with ragged-red fibers (MERRF) is also reported to prevent modification of the wobble U. "
10/15/2004 - "Our aim was to determine whether the A8344G mitochondrial tRNA(Lys) mutation, which can cause the MERRF (myoclonic epilepsy with ragged-red fibers) syndrome, could be complemented by targeting tRNAs into mitochondria from the cytosol. "
10/15/1997 - "Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates."
04/01/1995 - "Myoclonic epilepsy with ragged-red fibers (MERRF) is a maternally inherited disorder of oxidative phosphorylation due to specific point mutations within the mitochondrial tRNA(Lys) gene. "
|3.||Mitochondrial Diseases (Mitochondrial Disease)
06/01/1993 - "Study of disease associated with the tRNA(Lys) A-->G(8344) mutation provides further insight into the pathogenesis and transmission of mitochondrial diseases. "
06/01/2011 - "On the other hand, the tRNA(Lys/Leu) gene and also ATPase6 and ATPase8 genes are important for many mitochondrial diseases and many causative mutations have been reported from these genes. "
02/25/2014 - "Moreover, the proportion of mutated mtDNA varied markedly among the pups born to each dam, suggesting that selecting oocytes with high proportions of normal mtDNA from affected mothers with tRNA(Lys)-based mitochondrial diseases may be effective as a primary prevention for obtaining unaffected children. "
02/25/2014 - "Mito-mice-tRNA(Lys7731) with high proportions of G7731A mtDNA exclusively expressed respiration defects and disease-related phenotypes and therefore are potential models for mitochondrial diseases due to mutations in the mitochondrial tRNA(Lys) gene. "
05/01/2005 - "Two mutations (G8363A and A8296G) in the mtDNA (mitochondrial DNA) tRNA(Lys) gene have been associated with severe mitochondrial diseases in a number of reports. "
|4.||Hearing Loss (Hearing Impairment)
05/01/1996 - "Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)."
08/01/2008 - "In this study, we performed a systematic mutational screening of the 12S rRNA, tRNA Ser(UCN), tRNA Lys and tRNA Leu(UUR) genes in 227 unrelated patients with nonsyndromic hearing impairment for the first time in a Korean population. "
|5.||Systemic Lupus Erythematosus (Libman-Sacks Disease)
05/01/1997 - "Experiments and hydrolysis of substrates with known spatial structures (such as yeast tRNAPhe, as well as normal and mutant tRNALys from human mitochondria produced by transcription of the appropriate DNA species, that is, RNA genes) were performed to study the ribonuclease activity of antibodies isolated from blood sera of patients with systemic lupus erythematosus (SLE). "
|1.||Mitochondrial DNA (mtDNA)
|2.||Leu Transfer RNA
|3.||RNA (Ribonucleic Acid)
|4.||Ser Transfer RNA
|5.||Phe Transfer RNA
|6.||DNA (Deoxyribonucleic Acid)
|7.||12S ribosomal RNA
|10.||Transfer RNA (tRNA)