Results 111 to 120 of about 80,661 (193)

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HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Structure determination of Methylmalonyl-CoA mutase

Nihon Kessho Gakkaishi, 1995
Mancia, Filippo, Evans, Phil, Keep, Nick, Leadlay, Peter   +3 more
openaire   +2 more sources

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Cell Journal, 2016
Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its ...
Somayeh Ahmadloo, Saeed Talebi, Mohammad Miryounesi, Parvin Pasalar, Mohammad Keramatipour   +4 more
doaj  

Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency

, 2022
Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Raetsch G, Dermitzakis E, Wollscheid B, Baumgartner MR, Froese DS.   +25 more
europepmc   +1 more source

Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA mutase and derails its activity and repair. [PDF]

Science, 2019
Ruetz M, Campanello GC, Purchal M, Shen H, McDevitt L, Gouda H, Wakabayashi S, Zhu J, Rubin EJ, Warncke K, Mootha VK, Koutmos M, Banerjee R.   +12 more
europepmc   +1 more source

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 Biol
Pournasr B, Duncan S.
europepmc   +1 more source

The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking. [PDF]

Int J Mol Sci
Vela-Amieva M, Delgado-Maldonado T, Ortega-Valdez E, Rivera G, López-Velázquez G, Fernández-Lainez C.   +5 more
europepmc   +1 more source

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, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T.   +5 more
europepmc   +1 more source

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.
openaire   +1 more source