MUT
Внешний вид
MUT (ингл. ) — аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.[12][13]
Искәрмәләр
[үзгәртү | вики-текстны үзгәртү]- ↑ 1,0 1,1 UniProt
- ↑ 2,0 2,1 Collins R., Watkins H., Paré G. et al. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study // Circulation: Cardiovascular Genetics — Lippincott Williams & Wilkins, 2009. — ISSN 1942-325X; 1942-3268 — doi:10.1161/CIRCGENETICS.108.829804 — PMID:20031578
- ↑ 3,00 3,01 3,02 3,03 3,04 3,05 3,06 3,07 3,08 3,09 3,10 3,11 3,12 3,13 3,14 GOA
- ↑ Han L., Huang Z., Han F. et al. Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia // World Journal of Pediatrics — Springer Science+Business Media, 2017. — ISSN 1708-8569; 1867-0687 — doi:10.1007/S12519-016-0085-Z — PMID:28101778
- ↑ Forny P., D. Sean Froese, Baumgartner M. R. Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT // Hum. Mutat. — Wiley, 2016. — 10 p. — ISSN 1059-7794; 1098-1004 — doi:10.1002/HUMU.23013 — PMID:27167370
- ↑ 6,0 6,1 GOA
- ↑ 7,0 7,1 7,2 7,3 7,4 7,5 Oppermann U., Kochan G. Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation // J. Biol. Chem. / L. M. Gierasch — Baltimore [etc.]: American Society for Biochemistry and Molecular Biology, 2010. — ISSN 0021-9258; 1083-351X; 1067-8816 — doi:10.1074/JBC.M110.177717 — PMID:20876572
- ↑ 8,0 8,1 Baumgartner M. R., D. Sean Froese Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria // Hum. Mutat. — Wiley, 2017. — ISSN 1059-7794; 1098-1004 — doi:10.1002/HUMU.23251 — PMID:28497574
- ↑ Forny P., D. Sean Froese, Baumgartner M. R. Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT // Hum. Mutat. — Wiley, 2016. — 10 p. — ISSN 1059-7794; 1098-1004 — doi:10.1002/HUMU.23013 — PMID:27167370
- ↑ Han L., Huang Z., Han F. et al. Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia // World Journal of Pediatrics — Springer Science+Business Media, 2017. — ISSN 1708-8569; 1867-0687 — doi:10.1007/S12519-016-0085-Z — PMID:28101778
- ↑ R Jansen, F Kalousek, Fenton W. A. et al. Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction // Genomics / A. Engel — Academic Press, Elsevier BV, 1989. — ISSN 0888-7543; 1089-8646 — doi:10.1016/0888-7543(89)90300-5 — PMID:2567699
- ↑ HUGO Gene Nomenclature Commitee, HGNC:29223 (ингл.). әлеге чыганактан 2015-10-25 архивланды. 18 сентябрь, 2017 тикшерелгән.
- ↑ UniProt, Q9ULJ7 (ингл.). 18 сентябрь, 2017 тикшерелгән.
Чыганаклар
[үзгәртү | вики-текстны үзгәртү]- Степанов В.М. (2005). Молекулярная биология. Структура и функция белков. Москва: Наука. ISBN 5-211-04971-3.(рус.)
- Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter (2002). Molecular Biology of the Cell (вид. 4th). Garland. ISBN 0815332181.(ингл.)
Бу — аксым турында мәкалә төпчеге. Сез мәкаләне үзгәртеп һәм мәгълүмат өстәп, Википедия проектына ярдәм итә аласыз. |