Beta ketothiolase deficiency or 2M3HBA is a rare genetic condition. 2M3HBA results from a mutation (error) in a persons DNA. 2M3HBA is considered an organic acid condition because it leads to a buildup of harmful amounts of organic acids in the body. Protein in the food we eat is broken down into amino acids, or building blocks. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia, and then harmless products our body can get rid of. If one of the enzymes needed is missing or not working correctly, the amino acid is not broken all the way down and builds up in our system as organic acids. Although organic acids are only mild acids, both organic acids and ammonia can damage our bodies if too much builds up. In this case the enzyme, 2-methyl-3-hydroxybutyryl, is unable to break down the amino acid, isoleucine.. Signs of 2M3HBA typically begin to show during ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Beta ketothiolase deficiency
In the present report we describe a method for the complete purification of native sterol carrier protein 2/3-oxoacyl-CoA thiolase (SCP-2/thiolase) from normal rat liver peroxisomes. The isolation procedure is based on the alteration in chromatographic properties of the enzyme in the presence of low concentrations of CoA. The purified preparation of SCP-2/thiolase consisted of 58- and 46-kDa polypeptides. Peroxisomes prepared freshly from normal rat liver contained three SCP-2/thiolase isoforms, separable by conventional chromatography. Immunochemical, molecular sieving, and chemical cross-linking experiments indicated that these isoforms represent thiolytically active homo- and heterodimeric combinations of the 46- and 58-kDa subunits (2 x 58, 58-46, and 2 x 46-kDa proteins). (C) 2000 Academic Press ...
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The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).
The β-oxidation of valproic acid (VPA; 2-n-propylpentanoic acid) was investigated in vitro in intact rat liver mitochondria incubated with 3H-labelled VPA. The metabolism of [4,5-3H2]VPA and [2-3H]VPA was studied by analysing the different acyl-CoA intermediates formed by reverse-phase HPLC with radiochemical detection. Valproyl-CoA, Δ2(E)-valproyl-CoA,3-hydroxyvalproyl-CoA and 3-oxovalproyl-CoA (labelled and non-labelled) were determined using continuous on-line radiochemical and UV detection. The formation of these intermediates was investigated using the two tritiated precursors in respiratory states 3 and 4. Valproyl-CoA was present at highest concentrations under both conditions. Two distinct labelled peaks were found, which were identified as 3H2O and [4,5-3H2]3-oxo-VPA. The formation of 3H2O strongly suggested that VPA underwent complete β-oxidation and that [4,5-3H2]3-oxo-VPA was formed by hydrolysis of the corresponding thioester. The hypothesis that 3-oxovalproyl-CoA undergoes ...
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Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import essential for import of 3-oxoacyl-CoA thiolase (a PTS2-containing protein) into peroxisomes. May direct thiolase to peroxisomes by shuttling between the cytosol and peroxisomal membranes.
Catalyzes the final step of fatty acid oxidation in which acetyl-CoA is released and the CoA ester of a fatty acid two carbons shorter is formed. Involved in the aerobic and anaerobic degradation of long-chain fatty acids.
Hu, Y., Rolfs, A., Bhullar, B., Murthy, T. V., Zhu, C., Berger, M. F., Camargo, A. A., Kelley, F., McCarron, S., Jepson, D., Richardson, A., Raphael, J., Moreira, D., Taycher, E., Zuo, D., Mohr, S., Kane, M. F., Williamson, J., Simpson, A., Bulyk, M. L., Harlow, E., Marsischky, G., Kolodner, R. D., LaBaer, J. (2007). Approaching a complete repository of sequence-verified protein-encoding clones for Saccharomyces cerevisiae. Genome Res 17:536-543.17322287 ...
3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. {ECO:0000269,PubMed:1346617, ECO:0000269,PubMed:1715688, ECO:0000269,PubMed:7728148, ECO:0000269,PubMed:9744475}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Mitochondrial fatty-acid beta-oxidation (mFAO) plays a central role in mammalian energy metabolism. Multiple severe diseases are associated with defects in this pathway. Its kinetic structure is characterized by a complex wiring of which the functional implications have hardly been explored. Repetitive cycles of reversible reactions, each cycle shortening the fatty acid by two carbon atoms, evoke competition between intermediates of different chain lengths for a common set of promiscuous enzymes (enzymes with activity towards multiple substrates). In our validated kinetic model of the pathway, substrate overload causes a steep and detrimental flux decline. Here, we unravel the underlying mechanism and the role of enzyme promiscuity in it. Comparison of alternative model versions elucidated the role of promiscuity of individual enzymes. Promiscuity of the last enzyme of the pathway, medium-chain ketoacyl-CoA thiolase (MCKAT), was both necessary and sufficient to elicit the flux decline. ...
CP000859.PE558 Location/Qualifiers FT CDS_pept 625652..626875 FT /codon_start=1 FT /transl_table=11 FT /locus_tag=Dole_0558 FT /product=Thiolase FT /note=PFAM: Thiolase; KEGG: bbr:BB1086 putative thiolase FT /db_xref=EnsemblGenomes-Gn:Dole_0558 FT /db_xref=EnsemblGenomes-Tr:ABW66368 FT /db_xref=GOA:A8ZU56 FT /db_xref=InterPro:IPR002155 FT /db_xref=InterPro:IPR016039 FT /db_xref=InterPro:IPR020616 FT /db_xref=InterPro:IPR020617 FT /db_xref=UniProtKB/TrEMBL:A8ZU56 FT /protein_id=ABW66368.1 FT /translation=MRDVAIIGAGMTRFGKFPEKSIKDLVKESSQAAIKDAGIQPSDIQ FT AAYVGSAVAGLMTGQEMIKAQVTLSAMGIEAIPMYNVENACASSSSALNLAWTAVGAGI FT FDCVLVTGFEKLYDEDKKKSFAALGTAVDIELFKLFLAEFQKNQGKGESIIKEGSGQKR FT SVFMDMYAHYTKIYMDRYGLTQEHFARIAVKSHKNGALNPHSQYQEEVTLEQVLNSGDV FT SWPLTRMMCSPIGDGAAAVIVCSKEAAARFGARPVWIASSVVGSGKLSGDLEDTLTKRL FT APKAFEAAGIGPDDIDVIEVHDATSPSEIITLIELGLCPGADAPKWIDEGYMEIDGSRP FT SNTSGGLAAKGHPIGATGLGQVYEIVNQLRGTAGKRQVKNPKVGMTHNGGGILGVDAAA FT MALHVFKN atgcgtgatg tggcaattat cggagcgggc ...
Looking for online definition of 3-ketoacyl-CoA thiolase in the Medical Dictionary? 3-ketoacyl-CoA thiolase explanation free. What is 3-ketoacyl-CoA thiolase? Meaning of 3-ketoacyl-CoA thiolase medical term. What does 3-ketoacyl-CoA thiolase mean?
Thiolase of Clostridium acetobutylicum is an important enzyme involved in both, acid and solvent fermentation. Two thiolase genes (thlA and thlB) have been cloned and sequenced from Clostridium acetobutylicum DSM 792, showing high homology to each other and to thiolases of PHA-synthesizing bacteria. The thlA gene is identical to the gene already cloned and sequenced from strain ATCC 824 (Stim- Herndon et al., 1995, Gene 154: 81-85). Using primer extension and S1 nuclease analysis a transcriptional start site was identified 102 bp upstream of the thlA start codon. This site was preceded by a region that exhibits high similarity to the s70 consensus promoter sequences of Gram-positive and -negative bacteria. Regulation of thlA and thlB was studied at the transcriptional level to elucidate the specific function of each gene. Non-radioactive primer extension analysis using fluorescein-labelled oligonucleotides and Northern blot analysis revealed high levels of thlA transcripts in acid- and ...
PubMed journal article Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficienc were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad.
TY - JOUR. T1 - Expression and Automated Purification of Acetoacetyl CoA Thiolase from Sunflower Cotyledon. AU - Dyer, James H.. AU - Becker, James. AU - Geraldo, Victor. AU - Giron, Mario. PY - 2006/4. Y1 - 2006/4. N2 - In the sunflower (Helianthus annuus L.) cotyledons, two distinguishable thiolase activities have been identified: acetoacetyl CoA thiolase (AACT), specifically active during oxidation of short chain acetoacetyl CoA, and 3-oxoacyl CoA thiolase (OACT), active towards short, medium, and long-chain acyl CoAs. The purpose of this research was to optimize the purification of the AACT expressed in bacteria. Escherischia coli (E. coli) with the full-length sunflower AACT cDNA cloned into the expression vector pBAD-His B was induced for production of the AACT using 0.2% arabinose. Optimizing the conditions for protein purification is often an extremely empirical process requiring several iterations of a basic protocol each with specific changes. This iterative process was simplified ...
OBJECTIVE The aim of this study was to explore the genetic features of a family with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling. METHOD Clinical data of the proband was collected, total RNA and genomic DNA were extracted from the peripheral blood. The whole coding region of the ACAT1 gene was amplified by RT-PCR. 5 noncoding region of the ACAT1 gene and all 6 exons and flanking intron regions of the HADH2 gene were amplified by PCR. All amplification products were directly sequenced and compared with the reference sequence. RESULT (1) The patient was a one-year-old boy who presented with psychomotor retardation and astasia when he was admitted to the hospital. Biochemical test revealed slight hyperlactatemia (3.19 mmol/L) and magnetic resonance imaging showed delayed myelination. 2-Methylacetoacetyl-CoA thiolase deficiency was suggested by gas chromatography-mass spectrometry. (2) There was no mutation in the
Wissenschaftler der finnischen Universität Oulu und des Helmholtz-Zentrum Berlin haben neue Wege zur Medikamentenentwicklung gegen die afrikanische Schlafkrankheit und andere von Parasiten übertragene, tropische Erkrankungen aufgezeigt. Grundlage dafür sind Strukturuntersuchungen an einem als Thiolase bezeichneten Enzym. Thiolase spielt eine wichtige Rolle im Lipid-Stoffwechsel krankheitsübertragender Parasiten. Die Struktur des Biomoleküls haben die Forscher an der MX-Beamline des Elektronenspeicherrings BESSY II des HZB untersucht.
Hematuria is the term for the presence of blood in the urine. Normally there is only a trace amount of blood in urine although there is a high quantity of the pigment deposits and other components present from [Read More ...] ...
Whether it is the sniffles or sneezing, every person experiences nose-related symptoms on a regular basis. Be it the common cold or the flu, the nasal symptoms can be quite uncomfortable. These are acute [Read More ...] ...
Manila - Typhoon survivors and civil society groups in the Philippines today delivered a complaint to the Commission on Human Rights of the Philippines (CHR) calling for an investigation into the responsibility of big fossil fuel companies for fuelling catastrophic climate change that is resulting in human rights violations. [1]
Looking for online definition of acetoacetyl-CoA thiolase in the Medical Dictionary? acetoacetyl-CoA thiolase explanation free. What is acetoacetyl-CoA thiolase? Meaning of acetoacetyl-CoA thiolase medical term. What does acetoacetyl-CoA thiolase mean?
TY - JOUR. T1 - Genetic Evaluation of Peroxisomal and Cytosolic Acetoacetyl-CoA Thiolase Isozymes in n-Alkane-Assimilating Diploid Yeast, Candida tropicalis. AU - Ueda, Mitsuyoshi. AU - Kanayama, Naoki. AU - Tanaka, Atsuo. PY - 2000. Y1 - 2000. N2 - The n-alkane-assimilating diploid yeast, Candida tropicalis, possesses two acetoacetyl-CoA thiolase (Thiolase I) isozymes encoded by one allele: peroxisomal and cytosolic Thiolase Is encoded by both CT-T1A and CT-T1B. To clarify the function of peroxisomal and cytosolic Thiolase Is, the site-directed mutation leading Thiolase I ΔC6 without a putative C-terminal peroxisomal targeting signal was introduced on CT-T1A locus in the ct-t1bΔ-null mutant. The C-terminus-truncated Thiolase I was active and solely present in the cytosol. Although the ct-t1aΔ/t1bΔ-null mutants showed mevalonate auxotrophy, the mutants having the C-terminus-truncated Thiolase I did not require mevalonate for growth, as did the strains having cytosolic Thiolase I. These ...
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Description : 11.1.10 lipid metabolism.FA synthesis and FA elongation.beta ketoacyl CoA synthase Encodes KCS4, a member of the 3-ketoacyl-CoA synthase family involved in the biosynthesis of VLCFA (very long chain fatty acids). 3-ketoacyl-CoA synthase 4 (KCS4). ...
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Mutations in this gene, along with mutations in HADHA, result in trifunctional protein deficiency.[5] Mutations in either gene have similar clinical presentations.[8] Trifunctional protein deficiency is characterized by decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase. This deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden infant death syndrome (SIDS),[9] infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.[10] Additionally, some presents showed symptoms associated with myopathy, recurrent and episodic rhabdomyolysis, and sensorimotor axonal neuropathy.[11] In some cases, symptoms of the deficiency can present as dilated cardiomyopathy, congestive heart failure, and respiratory failure. The deficiency has presented as hydrops fetalis and HELLP syndrome in fetuses.[12] A compound ...
This pathway mainly shows the oxidation of fatty acids. The fatty acid oxidation takes place in mitochondria in animals. This is the reverse of fatty acid biosynthesis and utilises CoA as acyl carrier. The four main enzymes involved in the degradation of fatty acids are acyl-CoA oxidase (acyl-CoA dehydrogenase), Enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase. Each cycle of activities of these enzymes removes 2-carbon units in the form of acetyl-CoA. This cycle of activities can continue until the fatty acid chain is degraded to 4-carbon acetoacetyl-CoA. Acetoacetyl-CoA can then be cleaved to 2 acetyl-CoAs by the reverse action of the enzyme acetyl-CoA C-acetyltransferase.. This pathway may provide a carbon source in the form of acetyl-CoA for mitochondrial TCA cycle and other biosynthesis pathways. The enzymes acyl-CoA oxidase and 3-hydroxyacyl-CoA dehydrogenase are absent in Plasmodium falciparum. There is no biochemical evidence of this pathway taking place in ...
Expression of the gene encoding medium-chain acyl coenzyme A dehydrogenase (MCAD), a nuclearly encoded mitochondrial fatty acid beta-oxidation enzyme, is regulated in parallel with fatty acid oxidation rates among tissues and during development. We have shown previously that the human MCAD gene promoter contains a pleiotropic element (nuclear receptor response element [NRRE-1]) that confers transcriptional activation or repression by members of the nuclear receptor superfamily. Mice transgenic for human MCAD gene promoter fragments fused to a chloramphenicol acetyltransferase gene reporter were produced and characterized to evaluate the role of NRRE-1 and other promoter elements in the transcriptional control of the MCAD gene in vivo. Expression of the full-length MCAD promoter-chloramphenicol acetyltransferase transgene (MCADCAT.371) paralleled the known tissue-specific differences in mitochondrial beta-oxidation rates and MCAD expression. MCADCAT.371 transcripts were abundant in heart tissue ...
A jojoba book Mathematics. Complex Algebra Dec old-new is the canola photochemical experience wireless news in great frames. Ketoacyl-coenzyme A( CoA) fruit( KCS) is the Interferometry of day with scan monopoly. book Mathematics. Complex of this virus is E)-cinnamic for Urinalysis, because it finds the Mg of interest of 4-hydroxyestradiol modular inhibition induction into canola.
Transient overexpression lysate of hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein ...
Fatty acid oxidation complex subunit alpha; Involved in the aerobic and anaerobic degradation of long-chain fatty acids via beta-oxidation cycle. Catalyzes the formation of 3-oxoacyl-CoA from enoyl-CoA via L-3-hydroxyacyl-CoA. It can also use D-3-hydroxyacyl-CoA and cis-3-enoyl-CoA as substrate; In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase ...
Fatty acid oxidation complex subunit alpha; Involved in the aerobic and anaerobic degradation of long-chain fatty acids via beta-oxidation cycle. Catalyzes the formation of 3-oxoacyl-CoA from enoyl-CoA via L-3-hydroxyacyl-CoA. It can also use D-3-hydroxyacyl-CoA and cis-3-enoyl-CoA as substrate; In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase ...
Trimetazidine is used for the treatment of angina pectoris, and works as an anti-ischemic metabolic agent. The utilization of myocardial glucose improves through the inhibition of long-chain-3-ketacyl CoA thiolase activity, reducing fatty acid oxidation and stimulating the oxidation of glucose. High rates of fatty acid oxidation can be detrimental during spells of angina due to…
v 0.998 (released 2021-09-07). Information is based on publicly available data from Zefix, SHAB, the cantonal commercial registers and the Federal Audit Oversight Authority (FAOA). All information is provided without guarantee for accuracy and completeness. This is not an official publication from the Swiss authorities. Authoritative is only the SHAB data published by the SECO with an electronic signature. auditorstats.ch - The independent and comprehensive auditor database for Switzerland. We provide auditor information about every Swiss legal entity (companies, associations, foundations) and statistics about the Swiss audit market. ...
v 0.998 (released 2021-09-07). Information is based on publicly available data from Zefix, SHAB, the cantonal commercial registers and the Federal Audit Oversight Authority (FAOA). All information is provided without guarantee for accuracy and completeness. This is not an official publication from the Swiss authorities. Authoritative is only the SHAB data published by the SECO with an electronic signature. auditorstats.ch - The independent and comprehensive auditor database for Switzerland. We provide auditor information about every Swiss legal entity (companies, associations, foundations) and statistics about the Swiss audit market. ...
InChI=1S/C25H40N7O18P3S/c1-13(33)8-16(35)54-7-6-27-15(34)4-5-28-23(38)20(37)25(2,3)10-47-53(44,45)50-52(42,43)46-9-14-19(49-51(39,40)41)18(36)24(48-14)32-12-31-17-21(26)29-11-30-22(17)32/h11-12,14,18-20,24,36-37H,4-10H2,1-3H3,(H,27,34)(H,28,38)(H,42,43)(H,44,45)(H2,26,29,30)(H2,39,40,41)/t14-,18-,19-,20?,24-/m1/ ...
Statement by AHHA and PHAA Long-term vision needed if Australia wants to keep universal healthcare For Australians to have an accessible, equitable and efficient universal healthcare system our political leaders need to consider sustainable and durable long-term funding arrangements that support an efficient and holistic health system, rather than just short-term fixes, said Alison Verhoeven, […]. ...
Are Trimetazidine Side Effects Putting Your Health at Risk? | Nov 15, 2017 Check these Trimetazidine side effect reports: A 78-year-old male patient was diagnosed with NA, treated with TRIMETAZIDINE HYDROCHLORIDE and reported hallucination, visual,aggression,hypothyroidism. Dosage: 35 Mg, 2x/day. Patient was hospitalized.
Trimetazidine Product Name : Trimetazidine Grade : IP / BP / USP Therapeutic Category : Anti anginal CAS No : 13171-25-0 COA : Available MSDS : Available R
The assignment of Cys163 as the active site cysteine is based on several lines of evidence. In a sequence comparison of 42 condensing enzymes of fatty acid and polyketide synthesis, Siggaard‐Andersen (1993) identified one conserved cysteine residue, which in KAS II corresponds to Cys163. In addition, this cysteine residue superimposes with the active site cysteine in thiolase I, Cys125. Covalent modification studies of β‐ketoacyl synthases (Kauppinen et al., 1988; Funabashi et al., 1989) and thiolases (Izbicka‐Dimitrijevio et al., 1982) as well as mutagenesis of this residue in the β‐ketoacyl synthase domain of rat fatty acid synthase (Joshi et al., 1997) and thiolase from Zooglea ramigera (Thompson et al., 1989) support the proposed role of this cysteine as the nucleophile in the catalytic reaction.. At the entrance of the active site pocket, a bulky conserved residue, Phe400, is located. This residue points into the active site pocket and in part blocks access to the nucleophilic ...
HADHA - HADHA (untagged)-Human hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein available for purchase from OriGene - Your Gene Company.
A method for controlling and modifying biopolymer synthesis by manipulation of the genetics and enzymology of synthesis of polyhydroxybutyrate (PHB) and polyhydroxyalkanoate (PHA) polyesters at the molecular level in procaryotic and eukaryotic cells, especially plants. Examples demonstrate the isolation, characterization, and expression of the genes involved in the production of PHB and PHA polymers. Genes encoding the enzymes in the PHB and PHA synthetic pathway (beta-ketothiolase, acetoacetyl-CoA reductase and PHB polymerass or PHA polymerase) from Zoogloea ramigera strain I-16-M, Alcaligenes eutrophus, Nocardia salmonicolur, and P. olevorans were identified or isolated and expressed in a non-PHB producing organism, E. coli. Specific modifications to the polymers include variation in the chain length of the polymers and incorporation of different monomers into the polymers to produce co-polymers with different physical properties.
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Trimetazidine is an anti-ischaemic agent with direct cardioprotective effects. It has been developed by the French company Servier for the prophylactic
Metabolic & Genetic Information Center Inborn erros of metabolism MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (MTPD) HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT HADHA
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Results At baseline, we confirmed an increase in Pi/PCr ratio during brain activation in controls -- reflecting increased ATP synthesis -- followed by a significant return to baseline levels during recovery (p = 0.003). In HD patients, we validated the existence of an abnormal brain energy profile as previously reported. After one month, this profile remained abnormal in HD patients without treatment. Conversely, the MRS profile was significantly improved in HD patients treated with triheptanoin for one month with the restoration of an increased Pi/PCr ratio during visual stimulation (p = 0.004).. ...
Luke S. Oh, MD, UNITED STATES Michael T. Freehill, MD, FAOA, FAAOS, UNITED STATES Kilian Wegmann, MD, PhD, GERMANY Alessandro Marinelli, MD, ITALY Gregory A. Hoy, FRACS, FAOrthA, FACSP, FASMF, AUSTRALIA Symposium 2017 group rating (7) ...
This enzyme was purified from the mitochondrial inner membrane. The enzyme has a preference for long-chain substrates, and activity with a C16 substrate was 6- to 15-fold higher than with a C4 substrate (cf. EC 1.1.1.35 3-hydroxyacyl-CoA dehydrogenase ...