metabolism of cobalamin associated A ; Homo sapiens






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1 2357455 Assessment of occupational exposure to inorganic arsenic based on urinary concentrations and speciation of arsenic. Br J Ind Med 1990 May 1
2 3767321 Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol 1986 Sep 1
3 6719100 The speciation of the chemical forms of arsenic in the biological monitoring of exposure to inorganic arsenic. Sci Total Environ 1984 Mar 15 2
4 8534962 Inherited errors of cobalamin metabolism and their management. Baillieres Clin Haematol 1995 Sep 1
5 9001360 Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes. J Nutr 1996 Dec 1
6 9627769 Cobalamin metabolism in methionine-dependent human tumour and leukemia cell lines. Clin Invest Med 1998 Jun 1
7 10882753 Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH). J Med Genet 2000 Jul 4
8 12438653 Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A 2002 Nov 26 1
9 14734568 MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation. J Biol Chem 2004 Apr 2 2
10 15308131 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. Mol Genet Metab 2004 Aug 1
11 15523652 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat 2004 Dec 6
12 16150626 Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Genet Metab 2005 Sep-Oct 1
13 16247646 Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatr Nephrol 2006 Feb 2
14 16752391 A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 2006 Jul 1
15 16846473 Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 2006 Jul 1
16 17011224 Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism. Mol Genet Metab 2007 Feb 1
17 17239412 Bioaccessibility and excretion of arsenic in Niu Huang Jie Du Pian pills. Toxicol Appl Pharmacol 2007 Aug 1 1
18 17539544 Hydrous ferric oxide incorporated diatomite for remediation of arsenic contaminated groundwater. Environ Sci Technol 2007 May 1 5
19 17957493 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis 2008 Feb 3
20 18840649 A Dictyostelium homologue of the metazoan Cbl proteins regulates STAT signalling. J Cell Sci 2008 Nov 1 2
21 19277894 Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12). J Inherit Metab Dis 2009 Apr 5
22 20876572 Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J Biol Chem 2010 Dec 3 4
23 21138732 Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein. Biochem Biophys Res Commun 2011 Jan 7 1
24 21312325 Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet 2011 Feb 15 1
25 22422209 Leukoencephalopathies associated with disorders of cobalamin and folate metabolism. Semin Neurol 2012 Feb 1
26 23026888 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. Mol Genet Metab 2012 Nov 1
27 23628113 Unravelling the basis of variability in cobalamin levels in the general population. Br J Nutr 2013 Nov 14 1
28 24095221 Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. Mol Genet Metab 2013 Dec 1
29 25832174 Crystal structures of Mycobacterial MeaB and MMAA-like GTPases. J Struct Funct Genomics 2015 Jun 1
30 28536607 Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. Cell Mol Biol Lett 2016 4
31 28943303 Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation. Biochimie 2017 Nov 1
32 29996803 Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. BMC Med Genet 2018 Jul 11 3
33 31056463 Allosteric Regulation of Oligomerization by a B<sub>12</sub> Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. Cell Chem Biol 2019 Jul 18 2
34 31111126 In vivo metal selectivity of metal-dependent biosynthesis of cobalt-type nitrile hydratase in Rhodococcus bacteria: a new look at the nitrile hydratase maturation mechanism? Metallomics 2019 Jun 19 7
35 31497484 Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. JIMD Rep 2019 Sep 2
36 31921599 Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to <i>MMAA</i> mutations. Mol Genet Metab Rep 2020 Mar 4
37 32505937 The role of surfactants in colloidal biliquid aphrons and their transport in saturated porous medium. Environ Pollut 2020 Oct 3
38 32754920 Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. J Inherit Metab Dis 2021 Jan 4
39 32856655 Colloidal biliquid aphron demulsification using polyaluminum chloride and density modification of DNAPLs: optimal conditions and common ion effect. Environ Sci Process Impacts 2020 Sep 23 1
40 35589192 The human B<sub>12</sub> trafficking chaperones: CblA, ATR, CblC and CblD. Methods Enzymol 2022 2