Výsledky vyhledávání

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co‐chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome‐like condition

Autor: D. R. McLeod, R Casey, F. F. Snyder, A Chan, P Ferreira, Jillian S. Parboosingh, Francois P. Bernier, Peter Bridge, K M Davey

Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5155793489d4b33389e1edf7c48b7755
https://europepmc.org/articles/PMC2564511/

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Design of an adenosine phosphorylase by active-site modification of murine purine nucleoside phosphorylase. Enzyme kinetics and molecular dynamics simulation of Asn-243 and Lys-244 substitutions of purine nucleoside phosphorylase

Autor: J T, Maynes, W, Yam, J P, Jenuth, R, Gang Yuan, S A, Litster, B M, Phipps, F F, Snyder

Publikováno v: The Biochemical journal.

Our objective was to alter the substrate specificity of purine nucleoside phosphorylase such that it would catalyse the phosphorolysis of 6-aminopurine nucleosides. We modified both Asn-243 and Lys-244 in order to promote the acceptance of the C6-ami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::411c5ce9b1ba94d6692aaa79976c66d3
https://pubmed.ncbi.nlm.nih.gov/10567244

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A twenty strain survey and backcross localization of the erythrocytic GTP concentration determining locus Gtpc on mouse chromosome 9

Autor: F F Snyder, F G Biddle, E Fung, G J Wiebe

Publikováno v: Genome. 42(3)

Erythrocyte nucleotide concentrations were surveyed among 20 inbred strains of mice in order to further assess the variability in GTP concentration. There was no significant difference in erythrocytic ATP concentration (Scheffé's test at P = 0.01),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d101d94b57107150cce33f4325d2a0
https://pubmed.ncbi.nlm.nih.gov/10382292

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Cloning and characterization of human guanine deaminase. Purification and partial amino acid sequence of the mouse protein

Autor: G, Yuan, J C, Bin, D J, McKay, F F, Snyder

Publikováno v: The Journal of biological chemistry. 274(12)

Mouse erythrocyte guanine deaminase has been purified to homogeneity. The native enzyme was dimeric, being comprised of two identical subunits of approximately 50,000 Da. The protein sequence was obtained from five cyanogen bromide cleavage products

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2dcda7314138f0b40f7e472293c79c13
https://pubmed.ncbi.nlm.nih.gov/10075721

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