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Aldehyde dehydrogenase 6 family, member A1

Methylmalonate-Semialdehyde Dehydrogenase, MMSDH, ALDH6A1, Malonate-Semialdehyde Dehydrogenase
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, fibrillin-1, CAN, HAD, SET
Papers on Methylmalonate-Semialdehyde Dehydrogenase
SAXS fingerprints of aldehyde dehydrogenase oligomers.
Tanner, Columbia, United States. In Data Brief, Dec 2015
Mutations in genes encoding ALDHs cause metabolic disorders, including alcohol flush reaction (ALDH2), Sjögren-Larsson syndrome (ALDH3A2), hyperprolinemia type II (ALDH4A1), γ-hydroxybutyric aciduria (ALDH5A1), methylmalonic aciduria (ALDH6A1), pyridoxine dependent epilepsy (ALDH7A1), and hyperammonemia (ALDH18A1).
Mycobacterium tuberculosis MmsA, a novel immunostimulatory antigen, induces dendritic cell activation and promotes Th1 cell-type immune responses.
Shin et al., Seoul, South Korea. In Cell Immunol, Nov 2015
Here, the contribution of methylmalonate semialdehyde dehydrogenase (MmsA, Rv0753c) of Mtb to immune responses was examined in the context of dendritic cell (DC) activation and T cell immunity both in vitro and in vivo.
Proteomic changes occurring in the malaria mosquitoes Anopheles gambiae and Anopheles stephensi during aging.
Hugo et al., Brisbane, Australia. In J Proteomics, Sep 2015
Proteins up-regulated with age included probable methylmalonate-semialdehyde dehydrogenase, voltage-dependent anion-selective channel and fructose bisphosphate aldolase.
Proteomics profiling identify CAPS as a potential predictive marker of tamoxifen resistance in estrogen receptor positive breast cancer.
Linderholm et al., Stockholm, Sweden. In Clin Proteomics, 2014
A panel of 13 proteins (TCEAL4, AZGP1, S100A10, ALDH6A1, AHNAK, FBP1, S100A4, HSP90AB1, PDXK, GFPT1, RAB21, MX1, CAPS) from the 3101 identified proteins, potentially separate relapse from non-relapse BC patients.
Investigation into the effects of antioxidant-rich extract of Tamarindus indica leaf on antioxidant enzyme activities, oxidative stress and gene expression profiles in HepG2 cells.
Mat Junit et al., Kuala Lumpur, Malaysia. In Peerj, 2014
The expression of KNG1, SERPINC1, SERPIND1, SERPINE1, FGG, FGA, MVK, DHCR24, CYP24A1, ALDH6A1, EPHX1 and LEAP2 were amongst the highly regulated.
Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.
van Harmelen et al., Leiden, Netherlands. In Diabetologia, 2014
We report four novel genes associated with type 2 diabetes and recovery upon weight loss: ACAT1 (encoding acetyl-CoA acetyltransferase 1), ACACA (encoding acetyl-CoA carboxylase α), ALDH6A1 (encoding aldehyde dehydrogenase 6 family, member A1) and MTHFD1 (encoding methylenetetrahydrofolate dehydrogenase).
The protein expression profile in hepatopancreas of scallop Chlamys farreri under heat stress and Vibrio anguillarum challenge.
Song et al., Qingdao, China. In Fish Shellfish Immunol, 2014
Fifteen protein spots expressed differentially between the combination treatment group and the bacteria challenge group were successfully identified by mass spectrometry and they were mainly classified as binding and catalytic proteins, such as endoglucanase, methylmalonate-semialdehyde dehydrogenase, xylose isomerase, tryptophanyl-tRNA synthetase, 40s ribosomal protein SA, glutathione S-transferase 4, and Mitochondrial transcription factor A, etc.
A study of gene expression markers for predictive significance for bevacizumab benefit in patients with metastatic colon cancer: a translational research study of the Hellenic Cooperative Oncology Group (HeCOG).
Fountzilas et al., Ioánnina, Greece. In Bmc Cancer, 2013
RESULTS: Five genes were significantly correlated to 8-month progression-free status in the Test set: overexpression of KLF12 and downregulation of AGR2, ALDH6A1, MCM5, TFF2.
Oxidative bioactivation of abacavir in subcellular fractions of human antigen presenting cells.
Park et al., Liverpool, United Kingdom. In Chem Res Toxicol, 2013
Relatively high levels of mRNA were detected for several redox enzymes, including alcohol dehydrogenase 5 (Class III), aldehyde dehydrogenases (ALDH3A2, ALDH6A1, and ALDH9A1), CYP1B1, CYP2R1, CYP7B1, and hydroxysteroid dehydrogenase 10.
Identification of hepatic biomarkers for physiological imbalance of dairy cows in early and mid lactation using proteomic technology.
Ingvartsen et al., Århus, Denmark. In J Dairy Sci, 2013
We identified pyruvate carboxylase and isocitrate dehydrogenase as potential hepatic biomarkers for PI for cows during early lactation and alcohol dehydrogenase-4 and methylmalonate-semialdehyde dehydrogenase for cows in mid lactation.
Angiotensin-converting enzyme inhibition curbs tyrosine nitration of mitochondrial proteins in the renal cortex during the early stage of diabetes mellitus in rats.
Katagiri et al., Japan. In Clin Sci (lond), 2013
Enalapril treatment blunted the DM-induced increase in tyrosine nitration of three proteins ACO2, GDH1 and MMSDH (aconitase 2, glutamate dehydrogenase 1 and methylmalonate-semialdehyde dehydrogenase), each of which resides in mitochondria.
Unraveling the function of paralogs of the aldehyde dehydrogenase super family from Sulfolobus solfataricus.
Siebers et al., Essen, Germany. In Extremophiles, 2013
Furthermore, for SSO1218, methylmalonate semialdehyde dehydrogenase (MSDH) activity was demonstrated.
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Geraghty et al., In Orphanet J Rare Dis, 2012
BACKGROUND: Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic, 3-aminoisobutyric and methylmalonic acids, as well as β-alanine.
Adenine binding mode is a key factor in triggering the early release of NADH in coenzyme A-dependent methylmalonate semialdehyde dehydrogenase.
Talfournier et al., Vandœuvre-lès-Nancy, France. In J Biol Chem, 2012
The structure of the methylmalonate semialdehyde dehydrogenase (MSDH) from Bacillus subtilis in binary complex with NAD(+) shows that, in contrast to what is observed for hydrolytic ALDHs, the nicotinamide ring is well defined in the electron density due to direct and H(2)O-mediated hydrogen bonds with the carboxamide.
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
Smith et al., Freiburg, Germany. In J Inherit Metab Dis, 2012
Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria, which may present with only slightly increased urinary levels of 3-hydroxyisobutyric acid, if a patient is metabolically stable [case reports]
Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease.
Pappa et al., Denver, United States. In Pharmacology, 2000
Polymorphisms in ALDH3A2, ALDH4A1, ALDH5A1 and ALDH6A1 are associated with metabolic diseases generally characterized by neurologic complications.
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