MMACHC
MMACHC (Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria) هوَ بروتين يُشَفر بواسطة جين MMACHC في الإنسان.[1]
الوظيفة
المراجع
- "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type"، Nat. Genet.، 38 (1): 93–100، يناير 2006، doi:10.1038/ng1683، PMID 16311595.
قراءة متعمقة
- "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria."، Mol. Genet. Metab.، 98 (4): 338–43، 2009، doi:10.1016/j.ymgme.2009.07.014، PMID 19700356.
- "[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]"، Zhonghua Yi Xue Yi Chuan Xue Za Zhi، 26 (1): 62–5، 2009، doi:10.3760/cma.j.issn.1003-9406.2009.01.014، PMID 19199254.
- "High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria."، Mol. Genet. Metab.، 98 (4): 344–8، 2009، doi:10.1016/j.ymgme.2009.07.017، PMID 19767224.
- "Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type."، Mol. Genet. Metab.، 93 (4): 475–80، 2008، doi:10.1016/j.ymgme.2007.11.005، PMID 18164228.
- "The DNA sequence and biological annotation of human chromosome 1."، Nature، 441 (7091): 315–21، 2006، doi:10.1038/nature04727، PMID 16710414.
- "Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations."، Hum. Mutat.، 30 (7): 1072–81، 2009، doi:10.1002/humu.21001، PMID 19370762.
- "Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product."، Mol. Genet. Metab.، 97 (4): 260–6، 2009، doi:10.1016/j.ymgme.2009.04.005، PMC 2709701، PMID 19447654.
- "The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum."، J. Neurol. Neurosurg. Psychiatry، 79 (6): 725–8، 2008، doi:10.1136/jnnp.2007.133025، PMID 18245139.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."، Genome Res.، 14 (10B): 2121–7، 2004، doi:10.1101/gr.2596504، PMC 528928، PMID 15489334.
- "A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins."، J. Biol. Chem.، 284 (48): 33418–24، 2009، doi:10.1074/jbc.M109.057877، PMC 2785186، PMID 19801555.
- "Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)."، Hum. Mutat.، 30 (11): 1558–66، 2009، doi:10.1002/humu.21107، PMID 19760748.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences."، Proc. Natl. Acad. Sci. U.S.A.، 99 (26): 16899–903، 2002، doi:10.1073/pnas.242603899، PMC 139241، PMID 12477932.
- "Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence."، Mol. Genet. Metab.، 96 (4): 261–7، 2009، doi:10.1016/j.ymgme.2008.12.011، PMID 19200761.
- "Decyanation of vitamin B12 by a trafficking chaperone."، Proc. Natl. Acad. Sci. U.S.A.، 105 (38): 14551–4، 2008، doi:10.1073/pnas.0805989105، PMC 2567227، PMID 18779575.
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
بوابة الكيمياء الحيوية
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