Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
An NADH-tetrazolium-coupled sensitive assay for malate dehydrogenase in mitochondria and crude tissue homogenates.
Large-scale proteomics and phosphoproteomics of urinary exosomes.
MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
Proteomic characterization of the human sperm nucleus.
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
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Bi-allelic loss-of-function MDH2 variants cause early-onset severe encephalopathy (DEE51); patient fibroblasts show near-null MDH enzymatic activity, rescued by wild-type MDH2 cDNA, with accumulation of malate and fumarate.
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MDH2 is essential for converting malate to oxaloacetate in the Krebs cycle and plays an essential role in the malate-aspartate NADH shuttle.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
The malate-aspartate shuttle is important for de novo serine biosynthesis.
Cytosolic RNA binding of the mitochondrial TCA cycle enzyme malate dehydrogenase.
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MDH2 binds RNA in cells (validated by PNK, 2C, eCLIP and EMSA), preferentially cytosolic tRNAs and mRNAs, via its NAD+-binding Rossmann fold; mitochondrial targeting is dispensable and RNA binding increases upon NAD+ depletion.
Studies on mitochondrial and cytoplasmic malate dehydrogenase in childhood myelodysplastic syndrome.
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Polymorphonuclear cells with monosomy 7 (the MDH2 locus) show reduced mitochondrial malate dehydrogenase activity, consistent with a gene-dosage effect, whereas cytoplasmic (chromosome 2) malate dehydrogenase is normal.
MDH2 dimer dehydrogenates MAL
Citric acid cycle (TCA cycle)
CLPXP binds mitochondrial matrix proteins
LONP1 degrades mitochondrial matrix proteins
LONP1 binds mitochondrial matrix proteins
CLPXP degrades mitochondrial matrix proteins