• The encoded protein is a transmembrane protein located in the mitochondrial inner membrane and catalyzes the transport of phosphate ions across it for the purpose of oxidative phosphorylation. (wikipedia.org)
  • In the final steps of oxidative phosphorylation, this protein catalyzes the uptake of a phosphate ion with a proton across the mitochondrial inner membrane. (wikipedia.org)
  • Further members of the mitochondrial nucleotide transporter subfamily convey diverse substrates including CoA, although not all members have had substrates identified. (guidetopharmacology.org)
  • An inner mitochondrial membrane transporter directs ornithine to the transcarbamoylase enzyme to keep intramatrix ornithine levels low. (medscape.com)
  • The transporter was identified by probing a mammalian-expressed sequence tag database with 2 fungal mitochondrial ornithine carrier protein sequences. (medscape.com)
  • In hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, the mitochondrial ornithine transporter ORNT1 is defective. (medscape.com)
  • Phosphate carrier protein, mitochondrial is a protein that in humans is encoded by the SLC25A3 gene. (wikipedia.org)
  • Mutations in this gene can cause mitochondrial phosphate carrier deficiency (MPCD), a fatal disorder of oxidative phosphorylation symptomized by lactic acidosis, neonatal hypotonia, hypertrophic cardiomyopathy, and death within the first year of life. (wikipedia.org)
  • The gene has 9 exons and produces a 40.1 kDa protein composed of 362 amino acids. (wikipedia.org)
  • Mutations in this gene can cause mitochondrial phosphate carrier deficiency (MPCD), a fatal disorder of oxidative phosphorylation. (wikipedia.org)
  • This gene encodes a mitochondrial solute carrier protein family member. (nih.gov)
  • A second group of methods, which includes DNA microarrays and proteomics, have advantages that overcome the limitations implicit in signature-tagged mutagenesis and in vivo expression technology, namely, the ability to directly measure expression (gene or protein) levels on a true genome-wide scale, but their application to analysis of bacterial pathogens during real infections is still in its infancy. (cdc.gov)
  • This gene is also identified as SLC25A15 because of its membership in the solute mitochondrial carrier protein family. (medscape.com)
  • In addition to the cellular energy sensor AMP kinase, the peroxisome proliferator-activated receptor cofactors PGC1α ( 5 , 6 , 7 ) and possibly PGC1β ( 8 ) activate mitochondrial biogenesis and increase OXPHOS gene expression by increasing the transcription, translation, and activation of the transcription factors necessary for mitochondrial DNA (mtDNA) replication. (diabetesjournals.org)
  • This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. (thermofisher.com)
  • The product of this gene functions as a gated pore that translocates ADP from the mitochondrial matrix into the cytoplasm. (thermofisher.com)
  • 1] "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (tcdb.org)
  • Furthermore, chromatophore-localized biosynthetic pathways as well as multiprotein complexes include proteins of dual genetic origin, suggesting that mechanisms evolved that coordinate gene expression levels between chromatophore and nucleus. (frontiersin.org)
  • Apparently these chromatophore-targeted proteins evolved convergently to plastid-targeted expression regulators and are likely involved in gene expression control in the chromatophore. (frontiersin.org)
  • Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. (nature.com)
  • We then performed the gene enrichment and protein-protein interaction (PPI) network analysis to obtain the interacting map. (researchsquare.com)
  • The uncoupling protein 1 ( UCP1 ) gene is thought to be extremely expressed in brown adipose tissue (BAT) that capabilities in thermogenesis. (aabioetica.org)
  • An abnormal gene may lead to an abnormal protein or an abnormal amount of a normal protein. (medlineplus.gov)
  • People with one copy of a recessive disease gene are called carriers. (medlineplus.gov)
  • CMT2A is the most common CMT2 phenotype, most often due to a mutation in the gene that encodes mitochondrial fusion protein mitofusin-2 ( MFN2 ). (msdmanuals.com)
  • We hypothesized a HFD may affect expression of genes involved in mitochondrial function and biogenesis. (diabetesjournals.org)
  • [ 11 ] In the CALERIE phase 1 study, however, we demonstrated that 6 months of 25% CR in healthy human s increased the expression of genes involved in mitochondrial biogenesis and mitochondrial DNA (mtDNA) copy number. (medscape.com)
  • The uncoupling proteins belong to the mitochondrial anion carrier family. (unesp.br)
  • Several genes (SDHD, SDHB, SDHC) that belong to the mitochondrial complex II have been identified as involved in the so-called pheochromocytoma-paraganglioma syndrome. (medscape.com)
  • The disease-causing mutations disclosed in mitochondrial carriers range from point mutations, which are often localized in the substrate translocation pore of the carrier, to large deletions and insertions. (nih.gov)
  • PHC contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. (wikipedia.org)
  • Combined, these results suggest a mechanism whereby HFD downregulates genes necessary for OXPHOS and mitochondrial biogenesis. (diabetesjournals.org)
  • At the molecular and structural level, mitochondrial biogenesis and mitochondrial function are altered in diabetes, as well as in insulin-resistant relatives of type 2 diabetic subjects ( 1 , 2 ). (diabetesjournals.org)
  • One study demonstrated that although lifelong CR preserved muscle mitochondrial function in mice, it did so by protecting the integrity and function of existing mitochondrial cellular components rather than by increasing biogenesis. (medscape.com)
  • Two‐dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: toward a human mitochondrial proteome. (nature.com)
  • 2] "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. (tcdb.org)
  • In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. (nih.gov)
  • 3)We investigate the mechanism of mitochondrial DNA recombination, replication and repair in healthy cells and mtDNA instability in human diseases. (upstate.edu)
  • Putative nucleic acid-binding protein Hcc-1/prolif. (wfleabase.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)
  • However, the limited set of chromatophore-encoded solute transporters appears insufficient for supporting metabolic connectivity or protein import. (frontiersin.org)
  • Here we show by mass spectrometric analyses of enriched insoluble protein fractions that, unexpectedly, nucleus-encoded transporters are not inserted into the chromatophore inner envelope membrane. (frontiersin.org)
  • Mitochondrial transporters are involved in the exchange of metabolites and intermediates between mitochondria and cellular cytoplasm. (fapesp.br)
  • Due to their known participation in the maintenance of mitochondrial homeostasis and in plant response to environmental stresses, these transporters have attracted interest of plant biologists. (fapesp.br)
  • The present project will focus on dicarboxylate transporters (DICs), whose function is still little studied, and uncoupling mitochondrial proteins (UCPs), known to be important modulators of the redox state. (fapesp.br)
  • Different approaches will be used to investigate the role and relevance of these transporters on mitochondrial metabolism and stress tolerance mechanisms of Arabidopsis thaliana. (fapesp.br)
  • A class of nucleotide translocases found abundantly in mitochondria that function as integral components of the inner mitochondrial membrane. (bvsalud.org)
  • MAIA, IVAN G. . Knockdown of Mitochondrial Uncoupling Proteins 1 and 2 (AtUCP1 and 2) in Arabidopsis thaliana Impacts Vegetative Development and Fertility . (fapesp.br)
  • MAIA, IVAN G. . omprehensive In Silico Analysis and Transcriptional Profiles Highlight the Importance of Mitochondrial Dicarboxylate Carriers (DICs) on Hypoxia Response in Both Arabidopsis thaliana and Eucalyptus grandi . (fapesp.br)
  • The biochemical consequences of deficient transport are the compartmentalized accumulation of the substrates and dysfunctional mitochondrial and cellular metabolism, which frequently develop into various forms of myopathy, encephalopathy, or neuropathy. (nih.gov)
  • Here, we review all the mitochondrial carrier-related diseases known until now, focusing on the connections between the molecular basis, altered metabolism, and phenotypes of these inherited disorders. (nih.gov)
  • Ultimately, we sought to identify the physiological function of the liver-specific mitochondrial carrier Slc25a47 in liver lipid metabolism and energy expenditure. (wur.nl)
  • Such dependant enzymes include those of the citric acid cycle, the mitochondrial electron transport chain, and several other pathways in the metabolism of carbohydrates, fats, and proteins. (medscape.com)
  • Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. (wikipedia.org)
  • The encoded protein (PHC) catalyzes the transport of phosphate from the cytosol into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. (wikipedia.org)
  • 1)Mitochondrial Precursor Over-accumulation Stress (mPOS) - We discovered that mitochondrial protein import is readily saturable within the cell and that the cytosol has a limited capacity in degrading unimported proteins. (upstate.edu)
  • Various mitochondrial stressors, with or without directly targeting the core protein import machinery, can cause the over-accumulation of unimported proteins in the cytosol. (upstate.edu)
  • Thus, mitochondrial damage can directly cause proteostatic stress in the cytosol in a manner independent of bioenergetic defect. (upstate.edu)
  • Exchange of 13C enriched TCA cycle intermediates with the NMR-observed glutamate pool in the cytosol is achieved by the coordinated activity of two types forex autopilot robot carrier proteins that span the mitochondrial membrane.Li, Y. (forextrading-madeeasy.com)
  • A total of 5 enzymes in 2 subcellular compartments (mitochondrial matrix and cytosol) convert ammonia into urea, which is excreted by the kidney (see image below). (medscape.com)
  • Citrulline is believed to passively diffuse across the inner mitochondrial matrix to the cytosol. (medscape.com)
  • These changes mimic those observed in diabetes and insulin resistance and, if sustained, may result in mitochondrial dysfunction in the prediabetic/insulin-resistant state. (diabetesjournals.org)
  • Mitochondrial dysfunction is associated with many aging-related neuromuscular degenerative diseases and metabolic disorders. (upstate.edu)
  • Mitochondrial dysfunction is a well-known pathological feature of DMD. (frontiersin.org)
  • However, whether mitochondrial dysfunction occurs before muscle fiber damage in DMD pathology is not well known. (frontiersin.org)
  • We hypothesized that dystrophin deletion leads to mitochondrial dysfunction, and that this may occur before myofiber necrosis. (frontiersin.org)
  • As a secondary complication to mitochondrial dysfunction, we also hypothesized metabolic abnormalities prior to the onset of muscle damage. (frontiersin.org)
  • A missense mutation at codon 189, resulting from a G → A transition at bp 538, impaired carrier activity without affecting targeting or stability in a non-French-Canadian patient. (medscape.com)
  • Intensiometric genetically encoded biosensors, based on allosteric modulation of the fluorescence of a single fluorescent protein, are powerful tools for enabling imaging of neural activities and other cellular biochemical events. (nature.com)
  • 7] "Lysine acetylation targets protein complexes and co-regulates major cellular functions. (tcdb.org)
  • We investigate how mitochondrial function deteriorates during aging and how mitochondrial damage induces cellular degeneration and neuromuscular degenerative diseases. (upstate.edu)
  • A mitochondrial uncoupling protein that is expressed in heart and skeletal muscle tissues. (online-medical-dictionary.org)
  • We conducted an ancillary study to the CALERIE 2 randomized controlled trial to examine the effects of 12 months of 25% CR on in vivo skeletal muscle mitochondrial energetics, mitochondrial content, and markers of oxidative stress. (medscape.com)
  • Mitochondrial protein degradation is not triggered by loss of mitochondrial membrane potential or oxidative stress. (elifesciences.org)
  • C ) Loss of mitochondrial membrane potential or oxidative stress does not activate autophagy-dependent Tom70-GFP degradation. (elifesciences.org)
  • The effects of caloric restriction (CR) on in vivo muscle mitochondrial function in humans are controversial. (medscape.com)
  • We evaluated muscle mitochondrial function and associated transcriptional profiles in nonobese humans after 12 months of CR. (medscape.com)
  • [ 12 ] The activity of key mitochondrial enzymes of the tricarboxylic acid cycle, β-oxidation, and the electron transport system, conversely, were unchanged, [ 12 ] leaving many unanswered questions regarding the effects of CR on muscle-specific mitochondrial function in humans. (medscape.com)
  • To date, there have been no randomized controlled trials that have examined the effects of long-term CR on muscle mitochondrial function in humans. (medscape.com)
  • Recent studies have identified the transcriptional coactivator peroxisome proliferator-activated receptor γ coactivator-1 (PGC-1) as a regulator of mitochondrial function in tissues specialized for thermogenesis, such as brown adipose. (jci.org)
  • We discuss how emerging technologies can assist the detection of new mitochondrial proteins, reveal their patterns of expression across diverse tissues and cell types, and provide key information on proteoforms. (nature.com)
  • This leads to a cytosolic stress that we named mitochondrial Precursor Over-accumulation Stress (mPOS). (upstate.edu)
  • 2)mPOS and neuromuscular diseases - Mitochondrial abnormalities and cytosolic protein misfolding are probably the two most important hallmarks of aging and aging-associated degenerative diseases. (upstate.edu)
  • Identical to known human protein ( Q96A46 ) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). (h-invitational.jp)
  • These coenzymes play a necessary role in most of the major energy-producing biochemical processes in the body, acting as electron carriers for enzymes in oxidation-reduction reactions. (medscape.com)
  • The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. (nih.gov)
  • Two critical factors during this dauntingly complex process appear to be the establishment of metabolic connectivity between the symbiotic partners, and the evolution of nuclear control over protein expression levels within the organelle. (frontiersin.org)
  • We further detected mild metabolic and mitochondrial impairments in female mdx carrier mice that were exacerbated with high-fat diet feeding. (frontiersin.org)
  • These results are in line with previous data and suggest that before the onset of myofiber necrosis, mitochondrial and metabolic abnormalities are present within the mdx mouse. (frontiersin.org)
  • Coyne, L. and X.J. Chen (2019) Consequences of inner mitochondrial membrane protein misfolding. (upstate.edu)
  • Peroxisomal membrane protein MPV17 and related pro. (wfleabase.org)
  • The 56th Annual Biophysical Society Meeting is fast approaching, and this year members of the Membrane Protein Structural Dynamics Consortium (MPSDC) have collaborated on no less than 72 presentations and posters taking place in various subgroups, platforms, symposia, mini-symposia, and workshops. (memprotein.org)
  • Examples of diseases, due to mitochondrial carrier mutations are: combined D-2- and L-2-hydroxyglutaric aciduria, carnitine-acylcarnitine carrier deficiency, hyperornithinemia-hyperammonemia-homocitrillinuria (HHH) syndrome, early infantile epileptic encephalopathy type 3, Amish microcephaly, aspartate/glutamate isoform 1 deficiency, congenital sideroblastic anemia, Fontaine progeroid syndrome, and citrullinemia type II. (nih.gov)
  • Loss of vacuole function triggers mitochondrial protein degradation. (elifesciences.org)
  • A ) Schematic illustration showing that loss of vacuolar acidity (2) through aging or concanamycin A (conc A)-mediated inhibition of the Vacuolar H + -ATPase (1) leads to loss of mitochondrial function (3) through an unknown mechanism. (elifesciences.org)
  • Obesity and type 2 diabetes have been associated with a high-fat diet (HFD) and reduced mitochondrial mass and function. (diabetesjournals.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)
  • Cardiac mitochondrial function is altered in a variety of inherited and acquired cardiovascular diseases. (jci.org)
  • In vivo mitochondrial function [maximal ATP synthesis rate (ATPmax), ATPflux/O 2 (P/O)] was determined by 31 P-magnetic resonance spectroscopy and optical spectroscopy, and body composition was determined by dual-energy X-ray absorptiometry. (medscape.com)
  • however, having a "more coupled" (versus "less coupled") phenotype enables CR-induced improvements in muscle mitochondrial function. (medscape.com)
  • Mitochondrial changes (content and function) are at the heart of a wide range of age-related diseases. (medscape.com)
  • Taken together, these data lead to the question of whether duration (chronic versus short-term) is a key determinant of CR-induced changes in muscle mitochondrial mass and function. (medscape.com)
  • S donor with mitochondrial targeting function for treatment of Parkinson's disease. (bvsalud.org)
  • UCP3's properties, similar to its excessive homology to different mitochondrial carriers, particularly to UCP2, its quick lifetime and low specificity of UCP3 antibodies , have hindered progress in understanding its organic operate and transport mechanism over many years. (aabioetica.org)
  • It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. (nih.gov)
  • Finally, we examine the utility of an expanded, functionally annotated mitochondrial proteome in a translational setting for aiding both diagnosis of mitochondrial disease and targeting of mitochondria for treatment. (nature.com)
  • Furthermore, we systematically characterized mitochondria during disease progression starting before the onset of muscle damage, noting additional changes in mitochondrial DNA copy number and regulators of mitochondrial size. (frontiersin.org)
  • Chen, X.J. and Clark-Walker (2018) Unveiling the mystery of mitochondrial DNA replication in yeasts. (upstate.edu)
  • Their diverse functions are enabled by a sophisticated set of protein components encoded by the nuclear and mitochondrial genomes. (nature.com)
  • Membrane uncoupling protein 3 (UCP3), a member of the mitochondrial uncoupling protein household, was found in 1997. (aabioetica.org)
  • If one of these genes is abnormal, the other one may make enough protein so that no disease develops. (medlineplus.gov)
  • Carriers usually don't have symptoms of the disease. (medlineplus.gov)
  • In autosomal recessive inheritance, the parents of an affected individual may not show the disease (they are carriers). (medlineplus.gov)
  • On average, the chance that carrier parents could have children who develop the disease is 25% with each pregnancy. (medlineplus.gov)
  • Protein drugs are a critically important therapeutic modality due to the sophisticated binding recognition, catalytic properties, and disease relevance of proteins. (bvsalud.org)
  • A Human IRE1 Inhibitor Blocks the Unfolded Protein Response in the Pathogenic Fungus Aspergillus fumigatus and Suggests Noncanonical Functions within the Pathway. (uc.edu)
  • The molecular basis of the interaction between mitochondrial carrier homologue 2 (MTCH2) and truncated BID (tBID) was characterized. (huji.ac.il)
  • These proteins participate in the apoptotic pathway, and the interaction between them may serve as a target for anticancer lead compounds. (huji.ac.il)
  • The regions that mediate the interaction between the proteins were identified. (huji.ac.il)
  • In the interaction with proteins, lead binds with virtually every available functional group, including sulfhydryl, amine, phosphate, and carboxyl groups, with sulfhydryl having the highest affinity. (cdc.gov)
  • A group of these diseases are due to defects of mitochondrial carriers, a family of proteins named solute carrier family 25 (SLC25), that transport a variety of solutes such as the reagents of ATP synthase (ATP, ADP, and phosphate), tricarboxylic acid cycle intermediates, cofactors, amino acids, and carnitine esters of fatty acids. (nih.gov)
  • Tauopathies are a group of neurodegenerative diseases characterized by the hyperphosphorylation and deposition of tau proteins in the brain. (ibecbarcelona.eu)
  • Mitochondrial biology, stress signaling and aging-related degenerative diseases. (upstate.edu)
  • As with other mitochondrial carrier family proteins, the ornithine carrier is composed of 300 amino acids that constitute 3 repeated motifs of approximately 100 amino acids each. (medscape.com)
  • Unnatural Amino Acid Engineering for Intracellular Delivery of Protein Therapeutics. (bvsalud.org)
  • Yet numerous challenges remain in understanding mitochondrial biology and translating this knowledge into the medical context. (nature.com)
  • Among the bacterial systems available, the Gram-positive lactic bacterium, Lactococcus lactis , traditionally used in food fermentations, is nowadays widely used for large-scale production and functional characterization of bacterial and eukaryotic membrane proteins. (springer.com)
  • The aim of this chapter is to describe the different possibilities for the functional characterization of peripheral or intrinsic membrane proteins expressed in Lactococcus lactis . (springer.com)
  • First record of a tandem-repeat region within the mitochondrial genome of Clonorchis sinensis using a long-read sequencing approach. (cdc.gov)