Results 101 to 110 of about 76,676 (194)

Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics

Molecular Medicine
Methylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du, Miaomiao Li, Shengnan Wu, Xue Wu, Yongxing Chen, Changlian Zhu   +5 more
doaj   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature

BMC Pediatrics
Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira   +9 more
doaj   +1 more source

Publication Only

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

Investigation of a novel intein-based Escherichia coli expression system for human methylmalonyl CoA mutase : a thesis presented to Massey University in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry [PDF]

, 2005
Human methylmalonyl CoA mutase (hMCM) is a 78 kDa homodimeric mitochondrial matrix enzyme. hMCM catalyses the conversion of 2R-methylmalonyl CoA to succinyl CoA in the metabolism of propionyl groups, and requires the vitamin B12 -derived cofactor ...
Clark, Alice Rosemary
core  

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

JCI Insight
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremity
Irini Manoli, Justin R. Sysol, PamelaSara E. Head, Madeline W. Epping, Oksana Gavrilova, Melissa K. Crocker, Jennifer L. Sloan, Stefanos A. Koutsoukos, Cindy Wang, Yiouli P. Ktena, Sophia Mendelson, Alexandra R. Pass, Patricia M. Zerfas, Victoria Hoffmann, Hilary J. Vernon, Laura A. Fletcher, James C. Reynolds, Maria G. Tsokos, Constantine A. Stratakis, Stephan D. Voss, Kong Y. Chen, Rebecca J. Brown, Ada Hamosh, Gerard T. Berry, Xiaoyuan Shawn Chen, Jack A. Yanovski, Charles P. Venditti   +26 more
doaj   +1 more source

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  

Structure determination of Methylmalonyl-CoA mutase

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

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

Model studies for the methylmalonyl-coenzyme A mutase-catalyzed isomerization reaction.

, 2004
Model studies for the methylmalonyl-coenzyme A mutase-catalyzed isomerization ...
Pierre. Daublain (7993376)
core   +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