Výsledky vyhledávání - "Renate Milos"

Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

Autor: Renate Milos, Manuel Chan, P. Frosst, Zhoutao Chen, Philippe Goyette, Aditya Pai, Rima Rozen, Pamela V. Tran

Publikováno v: Mammalian Genome. 9:652-656

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A human cDNA for MTHFR, 2.2 kb in length, has been expres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a9a77b4219f7099788ffdbe51db300
https://doi.org/10.1007/s003359900838

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Isolation and Expression of a cDNA Encoding the Precursor for a Novel Member (ACADSB) of the Acyl-CoA Dehydrogenase Gene Family

Autor: Caroline Vicanek, Rima Rozen, Katherine Fu, Beatrice Fournier, Elena Torban, Jan Willard, Renate Milos, Lawrence Low-Nang, Jerry Vockley, Lubing Zhou

Publikováno v: Genomics. 24:280-287

The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e098e430d45f7b1a166bf79fd6189242
https://doi.org/10.1006/geno.1994.1617

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A candidate genetic risk factor for vascular disease : a common mutation in methylenetetrahydrofolate reductase

Autor: P. Frosst, Renate Milos, Rowena G. Matthews, Rima Rozen, Philippe Goyette, Henk J. Blom, Christal A. Sheppard, Leo A. J. Kluijtmans, M. den Heijer, G. J.H. Boers, L.P.W.J. van den Heuvel

Publikováno v: Nature Genetics, 10, 111-113
Nature Genetics, 10, pp. 111-113
Nature Genetics, 10, 1, pp. 111-113

Hyperhomocysteinaemia has been identified as a risk factor for cerebrovascular, peripheral vascular and coronary heart disease. Elevated levels of plasma homocysteine can result from genetic or nutrient-related disturbances in the trans-sulphuration

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8eb93da17468691046f73ce057e9d79
https://hdl.handle.net/2066/22247

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Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

Autor: Daniel Leclerc, Francois Hiou-Tim, Qing Wu, Aditya Pai, Philippe Goyette, Pamela V. Tran, Carmen Artigas, Manuel Chan, Renate Milos, Rima Rozen

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society. 13(9)

Methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine. Mild MTHFR deficiency, due to a common variant at nucleotide 67

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1539875e6ca282ad726287baeed815
https://pubmed.ncbi.nlm.nih.gov/12370778

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Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

Autor: Philippe Goyette, Rima Rozen, Rowena G. Matthews, David S. Rosenblatt, Renate Milos, Alessandra M.V. Duncan, James S. Sumner

Publikováno v: Nature genetics. 7(2)

Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine methylation to methionine. MTHFR deficiency, an autosomal recessive disorder, results in homocyste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400f25429205f8e701fc70754a5d7e81
https://pubmed.ncbi.nlm.nih.gov/7951330

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