Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria
Journal of Rehabilitation, 2000 This disorder is too rare that about 100 patients have been reported in the world. In this condition a liver enzyme (methylmalonyl CoA mutase) which should carry out one of many thousands of chemical processes that turn protein into energy or body ...
Firouzeh Sajedi
doaj
Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations in <i>Methylmalonyl-CoA Mutase</i>. [PDF]
MicroPubl BiolPournasr B, Duncan S.
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Schisandra chinensis Lignans for Methylmalonyl-CoA Mutase Stabilization
IPFS: QmZJQJjX1sRmxTTu5iHUi3SnH9g3tbEhdVtdwz8przqvYq. TX: 0xf86a7157a82bff4a5048b8ec6ffe991c6b6567a1b0fb6394ae694d910ba12b66. CC0.
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The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking. [PDF]
Int J Mol SciVela-Amieva M +5 more
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Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. [PDF]
Orphanet J Rare Dis, 2019 Almási T +5 more
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Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients. [PDF]
Saudi Med J, 2015 Mohamed S, Hamad MH, Abu-Amero KK.
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Ashwagandha Withanolides for Methylmalonyl-CoA Mutase Chaperone Activity
Withanolide A from Withania somnifera acts as a pharmacological chaperone, stabilizing misfolded methylmalonyl-CoA mutase variants through HSP70 upregulation and ER stress reduction. The compound enhances protein folding capacity via activation of the unfolded protein response, potentially restoring partial enzyme function in certain MMA mutations.
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Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. [PDF]
Hum Mutat, 2014 Forny P +4 more
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, 2007 Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin.
Gradinger, Abigail.
core
Methylmalonyl‐CoA mutase in a methanol‐utilizing bacterium, Protaminobacter ruber
FEBS Letters, 1976 Sato, Kazuyoshi +2 more
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