In vitro 3′-end endonucleolytic processing defect in a human mitochondrial tRNA Ser(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness

By Levinger L.   Jacobs O.   James M.  

Nucleic Acids Research, Vol. 29, Iss. 21, 2001-11 ,pp. : 4334-4340

Oxford University Press

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A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNA Ser(UCN) caused by T7512C and G7497A point mutations

By Möllers Myriam   Maniura-Weber Katharina   Kiseljakovic Emina   Bust Maria   Hayrapetyan Armine   Jaksch Michaela   Helm Mark   Wiesner Rudolf J.   von Kleist-Retzow Jürgen-Christoph  

Nucleic Acids Research, Vol. 33, Iss. 17, 2005-01 ,pp. : 5647-5658

Oxford University Press

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Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

By Zhao Hui   Young Wie-Yen   Yan Qingfeng   Li Ronghua   Cao Juyang   Wang Qiuju   Li Xiaoming   Peters Jennifer L.   Han Dongyi   Guan Min-Xin  

Nucleic Acids Research, Vol. 33, Iss. 3, 2005-01 ,pp. : 1132-1139

Oxford University Press

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A Novel Mutation in the Mitochondrial tRNA Thr Gene Associated with a Mitochondrial Encephalomyopathy

By Nishino I.   Seki A.   Maegaki Y.   Takeshita K.   Horai S.   Nonaka I.   Goto Y.I.  

Biochemical and Biophysical Research Communications, Vol. 225, Iss. 1, 1996-08 ,pp. : 180-185

Elsevier

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Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNA leu(UUR) Gene (A3243T)

By Shaag A.   Saada A.   Steinberg A.   Navon P.   Elpeleg O.N.  

Biochemical and Biophysical Research Communications, Vol. 233, Iss. 3, 1997-04 ,pp. : 637-639

Elsevier

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