Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
Hypothalamic malate dehydrogenase 2 modulates systemic glucose metabolism through oxytocin-mediated thermogenesis. [PDF]
Yao T +21 more
europepmc +1 more source
Abstract Hydrogenotrophic methanogens are anaerobic archaea that convert carbon dioxide and hydrogen into methane. Central to this process is the heterodisulfide reductase (Hdr), which catalyzes the reduction of the heterodisulfide made of coenzyme M and coenzyme B. In vivo, Hdr functions in association with electron‐donating modules such as the [NiFe]‐
Mahdi Faal Maleki +5 more
wiley +1 more source
Large deletions in the DNA primase large subunit PRIM2 are associated with NADP-malate dehydrogenase activity in a porcine F<sub>2</sub> cross. [PDF]
Falker-Gieske C +6 more
europepmc +1 more source
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. [PDF]
Laemmle A +11 more
europepmc +1 more source
ABSTRACT In light of climate change and growing resource scarcity, microbial production of organic acids offers a sustainable alternative to fossil‐based chemical synthesis. In this study, malic acid production by Aspergillus oryzae was optimized through cultivation temperature adjustment and biotin supplementation, while organic acid formation from ...
Lukas Hartmann +6 more
wiley +1 more source
β-Hydroxybutyrate enhances malate dehydrogenase 2 β-hydroxybutyrylation to alleviate hepatic steatosis in MASLD. [PDF]
Cai J +12 more
europepmc +1 more source
Inhibition of Malate Dehydrogenase-2 Protects Renal Tubular Epithelial Cells from Anoxia-Reoxygenation-Induced Death or Senescence. [PDF]
Eleftheriadis T +5 more
europepmc +1 more source
Measuring Calcium Efflux in Isolated Primary Mitochondria
Abstract Mitochondrial calcium (mCa2+) homeostasis promotes oxidative metabolism within the physiological range; however, dysregulation can trigger necrotic cell death in diseases such as cardiac ischemia‐reperfusion injury, muscular dystrophy, and neurodegenerative disorders, including Alzheimer's disease.
Ta'Aliyah M. Jones +2 more
wiley +1 more source
Novel Dual-Coenzyme Specificity and Thermostability of Malate Dehydrogenase Identified in the Cyanobacterium <i>Microcystis aeruginosa</i> PCC7806. [PDF]
Ge Y +6 more
europepmc +1 more source

