Results 121 to 130 of about 1,339 (150)
HIF1 And DROSHA Are Involved in MMACHC Repression in Hypoxia
Biochimica Et Biophysica Acta - General Subjects, 2022 The MMACHC gene encodes for an enzyme involved in intracellular vitamin B12 metabolism, and autosomal recessive defects in MMACHC represent the most common disorder of intracellular vitamin B12 metabolism. Recent studies have identified increased levels of reactive oxygen species in cells and tissues with MMACHC dysfunction, suggesting a role for ...
Christian Grimm +2 more
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Intracellular Processing of Vitamin B12 by MMACHC (CblC)
Vitamins and Hormones, 2022Vitamin B12 (cobalamin, Cbl, B12) is a water-soluble micronutrient synthesized exclusively by a group of microorganisms. Human beings are unable to make B12 and thus obtain the vitamin via intake of animal products, fermented plant-based foods or supplements.
Luciana Hannibal, Donald W Jacobsen
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Methionine Synthase and Methionine Synthase Reductase Interact With MMACHC and With MMADHC
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2017 An increasing number of studies indicate that each step of the intracellular processing of vitamin B12 or cobalamin (Cbl) involves protein-protein interactions. We have previously described a novel interaction between methionine synthase (MS) and MMACHC and its effect on the regulation of MMACHC activity.
David Coelho +2 more
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Absence of MMACHC in Peripheral Retinal Cells Does Not Lead to an Ocular Phenotype in Mice
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2021 Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene. MMACHC encodes an enzyme crucial for intracellular vitamin B$_{12}$ metabolism, leading to the accumulation of toxic metabolites e.g.
Viktor Kožich +2 more
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Thermolability of Mutant MMACHC Protein in the Vitamin B12-Responsive cblC Disorder
Molecular Genetics and Metabolism, 2010 Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high dose OHCbl, is able to bind OHCbl with wild-type affinity, leaving undetermined the disease mechanism ...
U Oppermann, R A Gravel
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Mutation Spectrum of MMACHC in Chinese Patients With Combined Methylmalonic Aciduria and Homocystinuria [PDF]
Journal of Human Genetics, 2010 The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrelated Chinese patients.
Kwang-Jen Hsiao, Tze-Tze Liu
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Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC
Molecular Genetics and Metabolism, 2021Methionine dependence of tumor cell lines, the inability to grow in tissue culture media lacking methionine but supplemented with homocysteine, has been known for decades, but an understanding of the mechanism underlying this phenomenon remains incomplete. Methionine dependence of certain glioma and melanoma cell lines has been linked to alterations in
Mark, Sorin +3 more
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Amino Acids, 2021
Cobalamin C defect is caused by pathogenic variants in the MMACHC gene leading to impaired conversion of dietary vitamin B12 into methylcobalamin and adenosylcobalamin. Variants in the MMACHC gene cause accumulation of methylmalonic acid and homocysteine along with decreased methionine synthesis.
Savita Verma Attri +2 more
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Cobalamin C defect is caused by pathogenic variants in the MMACHC gene leading to impaired conversion of dietary vitamin B12 into methylcobalamin and adenosylcobalamin. Variants in the MMACHC gene cause accumulation of methylmalonic acid and homocysteine along with decreased methionine synthesis.
Savita Verma Attri +2 more
exaly +3 more sources
Expression of Mmachc and Mmadhc during mouse organogenesis
Molecular Genetics and Metabolism, 2011To examine whether Mmachc and Mmadhc, two genes involved in vitamin B(12) (cobalamin) metabolism, show tissue-specific expression during mouse embryogenesis, we determined their sites of expression at 11.5days post conception by in situ hybridization. There was ubiquitous expression of Mmadhc, but tissue and cell type-specific expression of Mmachc in ...
Mihaela, Pupavac +3 more
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MMACHC gene mutation in familial hypogonadism with neurological symptoms
Gene, 2015Recent studies have convincingly documented that hypogonadism is a component of various hereditary disorders and is often recognized as an important clinical feature in combination with various neurological symptoms, yet, the causative genes in a few related families are still unknown.
Changhe, Shi +11 more
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