Results 61 to 70 of about 80,661 (193)
Central nervous system-targeted adeno-associated virus gene therapy in methylmalonic acidemia
Molecular Therapy: Methods & Clinical Development, 2021 Methylmalonic acidemia (MMA) is a severe metabolic disorder most commonly caused by a mutation in the methylmalonyl-CoA mutase (MMUT) gene. Patients with MMA experience multisystemic disease manifestations and remain at risk for neurological disease ...
Francis J. May +4 more
doaj +1 more source
Advanced Science, Volume 13, Issue 46, 17 August 2026.ABSTRACT Acute pancreatitis (AP) begins with pancreatic local inflammation, leading to the onset of systemic inflammatory response syndrome (SIRS), followed by compensatory anti‐inflammatory response syndrome (CARS), which causes immune paralysis and higher mortality rate.
Liwei Liu +15 more
wiley +1 more source
, 2002 Methylmalonyl-CoA mutase is an adenosylcobalamin (AdoCbl)-dependent enzyme that catalyzes the rearrangement of methylmalonyl-CoA to succinyl-CoA. The crystal structure of this protein revealed that binding of the cofactor is accompanied by a significant ...
Vlasie, Monica +5 more
core +1 more source
Imerslund‐Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in the AMN Gene: A Case Report
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT The 7‐year‐old girl had recurrent anemia for 6 years, showing large cell anemia. The parent‐derived AMN double heterozygous mutation was detected to confirm the diagnosis of IGS. The hemogram was normal after intramuscular injection of vitamin B12, and there were no other complications.
Cheng Chen +8 more
wiley +1 more source
MMUT holo-mutase activity in liver.
, 2022 MMA mice (-/-) or heterozygous mice (+/-) were treated with 1×1014 vg/kg mLB-001 at PND 1 (D1) or 5×1013 vg/kg mLB-001 at 8 weeks of age (W8). Terminal samples were analyzed at 6 months post-dosing.
Noel Walsh (13833794) +17 more
core +1 more source
MicrobiologyOpen, Volume 15, Issue 4, August 2026.This paper aims to address critical gaps in the literature by providing a comprehensive, integrative synthesis of recent advances in Streptomyces strain improvement, with a particular focus on optimizing secondary metabolite production through a multidisciplinary approach.
Anum Goraya +5 more
wiley +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 +4 more sources
The subunit structure of methylmalonyl-CoA mutase from Propionibacterium shermanii [PDF]
Biochemical Journal, 1986 5′-Deoxyadenosylcobalamin-dependent methylmalonyl-CoA mutase was purified to homogeneity from Propionibacterium shermanii by a simplified procedure. The native enzyme has an apparent Mr of 165,000, similar to the enzyme from other sources but larger than previously reported.
F, Francalanci +4 more
openaire +2 more sources
The FASEB Journal, Volume 40, Issue 13, 15 July 2026.Hypoxia results in fragmented mitochondria. Whether this fragmentation promotes or prevents cell death is unresolved. Caenorhabditis elegans mutants defective in mitochondrial fission and fusion coupled with a hypoxia resistant Raptor mutant demonstrated that hypoxia‐induced mitochondrial fragmentation occurs without an intact fission machinery and ...
Julien Goldstick +4 more
wiley +1 more source
Microbial Cell Factories, 2017 Background Propionic acid is used primarily as a food preservative with smaller applications as a chemical building block for the production of many products including fabrics, cosmetics, drugs, and plastics.
Ricardo Axayacatl Gonzalez-Garcia +5 more
doaj +1 more source