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UnknownAnalysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Not available
S-EPMC3565810 | biostudies-literature
UnknownKnockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels.
Not available
S-EPMC10410785 | biostudies-literature
ProteomicsαKG-mediated carnitine synthesis promotes homologous recombination via histone acetylation
Homologous recombination (HR) deficiency enhances sensitivity to DNA damaging agents commonly used to treat cancer. In HR-proficient cancers, metabolic mechanisms driving response or resistance to DNA damaging agents remain unclear. We identified that depletion of KG sensitizes HR-proficient cells t...
ORGANISM(S): Homo sapiens (Human) 
2026-03-30 | PXD060690 | Pride
Ovarian cancer Epigenetics Dna damaging agents Isocitrate dehydrogenase Glutamine Acetylcarnitine Tmlhe Cyclin e 
UnknownUse of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Not available
S-EPMC3196886 | biostudies-literature
TranscriptomicsAlpha-ketoglutarate -mediated carnitine synthesis promotes homologous recombination via histone acetylation
Homologous recombination (HR) deficiency enhances sensitivity to DNA damaging agents commonly used to treat cancer. In HR-proficient cancers, metabolic mechanisms driving response or resistance to DNA damaging agents remain unclear. Here we identified that depletion of alpha-ketoglutarate (αKG) sens...
ORGANISM(S): Homo sapiens 
2025-02-26 | GSE289735 | GEO
UnknownαKG-mediated carnitine synthesis promotes homologous recombination via histone acetylation.
Not available
S-EPMC10871207 | biostudies-literature
UnknownExpression of genes involved in hepatic carnitine synthesis and uptake in dairy cows in the transition period and at different stages of lactation.
Not available
S-EPMC3361467 | biostudies-literature
UnknownInborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism.
Not available
S-EPMC4749429 | biostudies-literature
UnknownBrain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
Not available
S-EPMC5642934 | biostudies-literature
GenomicsAlpha-ketoglutarate -mediated carnitine synthesis promotes homologous recombination via histone acetylation
Alpha-ketoglutarate -mediated carnitine synthesis promotes homologous recombination via histone acetylation
PRJNA1224274 | ENA
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