Results 121 to 130 of about 199,160 (290)

Rationalization and prediction of selective decoding of pseudouridine-modified nonsense and sense codons [PDF]

RNA, 2012
A stop or nonsense codon is an in-frame triplet within a messenger RNA that signals the termination of translation. One common feature shared among all three nonsense codons (UAA, UAG, and UGA) is a uridine present at the first codon position. It has been recently shown that the conversion of this uridine into pseudouridine (Ψ) suppresses translation ...
Chengqi Yi, Tao Pan, Marc Parisien
openaire   +3 more sources

Total Synthesis of Kanamycins

Chemistry – A European Journal, EarlyView.
This paper reports on creating a novel synthetic route of kanamycins A and B using the desymmetric boron‐mediated aglycon delivery (BMAD) reaction of meso‐diol acceptor with 1,2‐anhydro donor and regio‐ and stereoselective glycosylation of diol acceptor with trichloroacetimidate donor for introduction of a set of challenging 1,2‐cis‐glycosidic linkages
Kanae Hosomi, Banjo Imai, Naoto Takemura, Kazuki Senoo, Chigusa Hayashi, Masayuki Igarashi, Kazunobu Toshima, Daisuke Takahashi   +7 more
wiley   +1 more source

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

International Journal of Molecular Sciences, 2019
The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon ...
Ananya Samanta, K. Stingl, S. Kohl, J. Ries, Joshua Linnert, K. Nagel-Wolfrum   +5 more
semanticscholar   +1 more source

A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome

Platelets, 2018
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS.
Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan   +7 more
doaj   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

Identification of Hot and Cold Regions for Mutagenesis in the Escherichia coli tdk Gene: A Catalog of Mutational Sites

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT We constructed a catalog of mutational sites in the tdk gene of Escherichia coli that consists of 378 different base pair substitutions at 245 different sites (base pairs). This allows us to examine the tendency of different sub‐regions of the gene to be more or less prone to mutations when compared with other sub‐regions.
Katherine Douglas, Dana Sorensen, Arnav Saud, Ananya Sridharan, Mallika Mathew, Jyotsna Hiranandani, Ava Gonick, Courtney Young, Kelly Nguyen, Nhu Phi, Jeffrey H. Miller   +10 more
wiley   +1 more source

RNA virus evasion of nonsense-mediated decay

PLoS Pathogens, 2018
Nonsense-mediated decay (NMD) is a host RNA control pathway that removes aberrant transcripts with long 3’ untranslated regions (UTRs) due to premature termination codons (PTCs) that arise through mutation or defective splicing.
Jared P. May, Xuefeng Yuan, Erika Sawicki, A. Simon   +3 more
semanticscholar   +1 more source

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Anke Hinney, Anne-Kathrin Wermter, Britta Brokamp, Brocke, Claudia Hess, Cody, Constanze Vogel, Dubern, Farooqi, Frank Geller, Gotoda, Gu, Hanspeter Goldschmidt, Hebebrand, Hebebrand, Helmut Remschmidt, Helmut Schäfer, Hinney, Hirschhorn, Ho, Jacobson, Johannes Hebebrand, Katzmarzyk, Kobayashi, Lubrano-Berthelier, Mergen, Milligan, Milligan, Miraglia Del Giudice, Neel, Ohshiro, Salomon, Sarah Hohmann, Sina, Spielman, Stunkard, Thomas Gudermann, Vaisse, Vaisse, Wolfgang Siegfried, Yeo   +40 more
core   +1 more source

Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs

Nucleic Acids Research, 1994
Nonsense suppressor tRNAs have been suggested as potential agents for human somatic gene therapy. Recent work from this laboratory has described significant effects of 3' codon context on the efficiency of human nonsense suppressors. A rapid increase in the number of reports of human diseases caused by nonsense codons, prompted us to determine how the ...
Robin Martin, Jennifer Atkinson
openaire   +4 more sources