Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
about
Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductaseIdentification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductaseGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesVitamin B12 MetabolismFolate MetabolismNADPH-cytochrome P450 oxidoreductase: prototypic member of the diflavin reductase family.Inborn errors of cobalamin absorption and metabolism.cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.Therapeutic potential of total homocysteine-lowering drugs on cardiovascular disease.Redundancy in the pathway for redox regulation of mammalian methionine synthase: reductive activation by the dual flavoprotein, novel reductase 1.Acquired and inherited disorders of cobalamin and folate in children.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeImpeded electron transfer from a pathogenic FMN domain mutant of methionine synthase reductase and its responsiveness to flavin supplementationRestricted role for methionine synthase reductase defined by subcellular localization.Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.Olecular mechanism underlying the myeloperoxidase induced apoptosis of HUVEC-12 cells.The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.Defective MTRR causes methylmalonic aciduria and homocystinuria type cblEOutcomes of four patients with homocysteine remethylation disorders detected by newborn screening.Defective MTRR does not convert cob(II)alamin to MeCblMTRR reduces cob(II)alamin to meCblWho's afraid of homocysteine?Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study.Folic Acid
P2860
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P1343
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P2860
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molecular basis for methionine ...... in folate/cobalamin metabolism
@ast
Molecular basis for methionine ...... in folate/cobalamin metabolism
@en
Molecular basis for methionine ...... in folate/cobalamin metabolism
@nl
type
label
Molecular basis for methionine ...... in folate/cobalamin metabolism
@ast
Molecular basis for methionine ...... in folate/cobalamin metabolism
@en
Molecular basis for methionine ...... in folate/cobalamin metabolism
@nl
prefLabel
Molecular basis for methionine ...... in folate/cobalamin metabolism
@ast
Molecular basis for methionine ...... in folate/cobalamin metabolism
@en
Molecular basis for methionine ...... in folate/cobalamin metabolism
@nl
P2093
P4510
P356
P1476
Molecular basis for methionine ...... in folate/cobalamin metabolism
@en
P2093
D S Rosenblatt
R A Gravel
P304
P356
10.1093/HMG/8.11.2009
P407
P577
1999-10-01T00:00:00Z