Mutations in MT-TT have been associated with myoclonic epilepsy with ragged-red fibers (MERRF), and cause mitochondrial energy deficiencies and reduced proliferation leading to oxidative phosphorylation. (wikipedia.org)
Mitochondrial nucleotide transporters, defined by structural similarlities, include the adenine nucleotide translocator family (SLC25A4, SLC25A5, SLC25A6 and SLC25A31), which under conditions of aerobic metabolism, allow coupling between mitochondrial oxidative phosphorylation and cytosolic energy consumption by exchanging cytosolic ADP for mitochondrial ATP . (guidetopharmacology.org)
Inner mitochon3
Reducing equivalents produced in the Krebs cycle and in the beta-oxidation spirals are passed along a series of protein complexes embedded in the inner mitochondrial membrane (the electron transport chain). (medlink.com)
We find that OCIAD1 is an inner mitochondrial membrane protein that forms a complex with supramolecular prohibitin assemblies. (biorxiv.org)
The mETC is comprised of a series of four large inner mitochondrial membrane (IMM) complexes (CI-CIV) that assemble into supercomplexes of defined stoichiometry ( Letts and Sazanov, 2017 ). (biorxiv.org)
Subfamily2
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. (thermofisher.com)
Further members of the mitochondrial nucleotide transporter subfamily convey diverse substrates including CoA, although not all members have had substrates identified. (guidetopharmacology.org)
Electron trans3
The electron transport chain consists of 4 multimeric complexes (I to IV) plus 2 small electron carriers, coenzyme Q10 (or ubiquinone) and cytochrome c . (medlink.com)
Dysfunction of the mitochondrial electron transport chain (mETC) is a major cause of human mitochondrial diseases. (biorxiv.org)
OXPHOS depends on the mitochondrial electron transport chain (mETC), which transfers electrons from NADH and succinate to molecular oxygen. (biorxiv.org)
Protein4
MT-TT is a small 66 nucleotide RNA (human mitochondrial map position 15888-15953) that transfers the amino acid threonine to a growing polypeptide chain at the ribosome site of protein synthesis during translation. (wikipedia.org)
The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. (thermofisher.com)
The two DUX4‐fl isoforms produce the same protein sequence and differ only in the splicing of the 3′UTR. (comprehensivephysiology.com)
To identify determinants of mETC function, we screened a genome-wide human CRISPRi library under oxidative metabolic conditions with selective inhibition of mitochondrial Complex III and identified OCIA domain-containing protein 1 (OCIAD1) as a Complex III assembly factor. (biorxiv.org)
Bioinformatics1
Genome sequence comparisons across species using bioinformatics revealed three members of the RCAN gene family, RCAN1 , RCAN2 , and RCAN3 , present in most jawed vertebrates, with one member observed in most invertebrates and fungi. (molcells.org)
Biochemical1
The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)
Dysfunction1
Initially these disorders were named according to symptoms (later the cause was found to be mitochondrial dysfunction and more specifically maternally inherited mitochondrial DNA variations). (medlink.com)
Chromosome2
The regulator of calcineurin (RCAN) was first reported as a novel gene called DSCR1, encoded in a region termed the Down syndrome critical region (DSCR) of human chromosome 21. (molcells.org)
In addition, mutations have also been linked to lethal infantile mitochondrial myopathy, Parkinson's disease associated with a 15950G>A mutation, and a 15923A>G mutation found to result in an unconfirmed heart disease. (wikipedia.org)
MT-TT mutations result in complex IV deficiency of the mitochondrial respiratory chain, also known as the cytochrome c oxidase deficiency. (wikipedia.org)
After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. (medlink.com)
Cancer genome sequencing reveals diverse acquired mutations in CTCF , which we have shown, functions as a tumour suppressor gene. (preprints.org)
Disorder2
Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial disorder that affects many parts of the body, particularly the muscles and nervous system. (wikipedia.org)
Categorizing and describing a mitochondrial disorder is complicated in part because there are 3 ways to do so. (medlink.com)
Diseases1
In this review of what is probably the most heterogeneous group of human diseases (the mitochondrial diseases including encephalomyopathies), the author tries to offer the clinician a rational diagnostic framework. (medlink.com)
Patterns2
These changes in editing patterns of key neural genes have potential significance in the development of neurological symptoms, thus contributing to neurodevelopmental abnormalities. (bvsalud.org)
We determined the expression patterns of 101,040 genes via FPKM analysis and displayed the results using the eFP browser. (preprints.org)
Pathways1
Enriched pathways analysis of these positively correlated genes featured Toll-like receptor and SUMOylation pathways. (preprints.org)
Liver2
Associations of DPP9 with human liver cancer, exonic single nucleotide polymorphisms (SNPs) in DPP9 and loss of function (LoF) variants have not been explored. (preprints.org)
All four DPP4-like genes were overexpressed in liver tumours and their joint high expression was associated with poor survival in HCC. (preprints.org)
Tissues1
Using this database, researchers can quickly retrieve the expression level data for target genes in different tissues and in response to different treatments to elucidate gene functions and explore the biology of rapeseed at the transcriptome level. (preprints.org)
Overexpression1
High expression of genes that positively correlated with overexpression of DPP4, DPP8, and DPP9 were associated with very poor survival in HCC. (preprints.org)
Human2
The human genome contains several non-transcribed pseudogenes of this gene. (thermofisher.com)
Gene information is provided for human (Hs), mouse (Mm) and rat (Rn). (guidetopharmacology.org)
Defects1
Changes in gene expression can cause defects in myogenesis and muscle regeneration, apoptosis, and sensitivity to oxidative stress. (comprehensivephysiology.com)
Enzyme1
Transglutaminase 2 (TG2) is a ubiquitously expressed enzyme catalyzing the crosslinking between Gln and Lys residues and involved in various pathophysiological events. (encyclopedia.pub)
Symptoms1
Mitochondrial disorders describe a broad range of disorders that have multiple genetic causes and variable symptoms and signs. (medlink.com)
Energy1
In general, mitochondrial disorders are disorders of energy production. (medlink.com)
Survival1
Survival and gene signature analyses were performed on hepatocellular carcinoma (HCC) data. (preprints.org)
20231
Transglutaminase 2" Encyclopedia , https://encyclopedia.pub/entry/12976 (accessed December 07, 2023). (encyclopedia.pub)
Species1
Traditionally, MIRI can be due to reactive oxygen and nitrogen species (ROS/RNS) generation, a reduced availability of nitric oxide (NO), Ca 2+ overload, and mitochondrial permeability transition pore (mPTP) opening. (hindawi.com)
Transcription1
Locations of the candidate genes and the DME1 and DME2 myogenic transcription enhancers (92) are shown. (comprehensivephysiology.com)
Matrix1
The product of this gene functions as a gated pore that translocates ADP from the mitochondrial matrix into the cytoplasm. (thermofisher.com)
Genetic1
Complicating this picture is that there are 2 sources of genetic material-maternal inherited mtDNA and nuclear DNA. (medlink.com)
Expression3
We used this information to develop the BrassicaEDB, including eFP, Treatment, Coexpression, and SRA Project modules based on gene expression profiles and Gene Feature, qPCR Primer, and BLAST modules based on gene sequences. (preprints.org)
The BrassicaEDB provides comprehensive gene expression profile information and a user-friendly visualization interface for Brassica crop researchers. (preprints.org)
We also analysed the impact of CTCF haploinsufficiency by examining gene expression changes in CTCF -altered endometrial carcinoma. (preprints.org)
Immune1
Additionally, the ADAR1 p150 isoform is induced by interferons in viral infection and plays a role in antiviral immune response. (bvsalud.org)