Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease

Neurogenetics ◽  
1999 ◽  
Vol 2 (2) ◽  
pp. 121-127 ◽  
Author(s):  
Eva M. Grasbon-Frodl ◽  
Siegfried Kösel ◽  
Mathias Sprinzl ◽  
Ulrich von Eitzen ◽  
Parviz Mehraein ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Point Mutations ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders

2002 ◽  
Vol 22 (1) ◽  
pp. 81-98 ◽  
Author(s):  
Catherine Florentz
Keyword(s):  
Mitochondrial Protein ◽  
Point Mutations ◽  
Experimental Investigations ◽  
Trna Genes ◽  
Mitochondrial Protein Synthesis ◽  
Theoretical Level ◽  
Mitochondrial Trna ◽  
New Approach ◽  
Mitochondrial Trna Genes ◽  
Initial Results

Over the last decade, human neurodegenerative disorders which correlate with point mutations in mitochondrial tRNA genes became more and more numerous. Both the number of mutations (more than 70) and the variety of phenotypes (cardiopathies, myopathies, encephalopathies as well as diabetes, deafness or others) render the understanding of the genotype/phenotype relationships very complex. Here we first summarize the efforts undertaken to decipher the initial impact of various mutations on the structure/function relationships of tRNAs. This includes several lines of research, namely (i) investigation of human mitochrondrial tRNA structures, (ii) comparison of disease-related and polymorphic mutations at a theoretical level, and (iii) experimental investigations of affected tRNAs in the frame of mitochondrial protein synthesis. A new approach aimed at searching for long-range effects of mitochondrial tRNA mutations on a broader global mitochondrial level will also be presented. Initial results obtained by comparative mitochondrial proteomics turn out to be very promising for deciphering unexpected molecular partners involved in the pathological status of the mitochondria.

M.P.1.11 Homoplasmic point mutations in mitochondrial tRNA genes in patients with encephalomyopathy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 770-771
Author(s):  
E. Borgione ◽  
C. Scuderi ◽  
F. Castello ◽  
M. Elia ◽  
G. Vitello ◽  
...  
Keyword(s):  
Point Mutations ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Three mitochondrial tRNA genes fromArabidopsis thaliana: evidence for the conversion of a tRNAPhegene into a tRNATyrgene

1989 ◽  
Vol 17 (7) ◽  
pp. 2613-2622 ◽  
Author(s):  
Hsu-Ching Chen ◽  
Henri Wintz ◽  
Jacques-Henry Weil ◽  
Datta T.N. Pillay
Keyword(s):  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Premature ovarian insufficiency may be associated with the mutations in mitochondrial tRNA genes

2019 ◽  
Vol 66 (1) ◽  
pp. 81-88 ◽  
Author(s):  
Yu Ding ◽  
Bo-Hou Xia ◽  
Guang-Chao Zhuo ◽  
Cai-Juan Zhang ◽  
Jian-Hang Leng
Keyword(s):  
Premature Ovarian Insufficiency ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Ovarian Insufficiency ◽  
Mitochondrial Trna Genes

scholarly journals Genomic DNA sequences of mitochondrial tRNA genes in fungiPenicillium chrysogenumKCTC1262: tRNAarg, tRNAasnand tRNAtyrgenes

1992 ◽  
Vol 20 (21) ◽  
pp. 5842-5842
Author(s):  
Joonho Sheen ◽  
Seungmoak Kim ◽  
Yung Hee Kho ◽  
Kyung Sook Bae
Keyword(s):  
Dna Sequences ◽  
Genomic Dna ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Polymorphism of mitochondrial tRNA genes associated with the number of pigs born alive

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Dan Wang ◽  
Chao Ning ◽  
Hai Xiang ◽  
Xianrui Zheng ◽  
Minghua Kong ◽  
...  
Keyword(s):  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus

2021 ◽  
Vol Volume 14 ◽  
pp. 5719-5735
Author(s):  
Liangyan Lin ◽  
Dongdong Zhang ◽  
Qingsong Jin ◽  
Yaqin Teng ◽  
Xiaoyan Yao ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Mutational Analysis ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes
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