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5,451 Possible Causes for (formerly, 2B),, 3, B,, beta, human, isoform, phosphatase, protein, protein,, regulatory, subunit

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  • Phosphorylase Kinase Deficiency

    […] phos·phor·y·lase b ki·nase de·fi·cien·cy/ an X-linked disorder of glycogen storage due to deficiency of the enzyme in the liver, characterized in affected males by hepatomegaly[] […] configuration. [21] [22] Relation to disease [ edit ] Defects in phosphorylase kinase genes are the cause of glycogen storage disease type IX (GSD type IX) and GSD type VI (formerly[] Abstract Four boys, aged 2 years 5 months to 3 years 7 months, with large hepatomegaly due to phosphorylase-kinase deficiency glycogenosis, were given a trial of sodium dextrothyroxine[] The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic[] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[] […] in dentate & olive Hypothalamus & Cerebellar cortex: Hyaline cell bodies & Axonal spheroids Anterior horn cell loss Lafora's disease (Progressive myoclonic epilepsy 2A & 2B[] […] storage diseases such as GSD due to liver phosphorylase deficiency (GSD type VI), GSD due to glycogen debranching enzyme deficiency (GSD type III), and GSD due to glucose-6-phosphatase[] The complete coding sequences of the liver gamma subunit and of the beta subunit of phosphorylase kinase of the proband were analyzed for the presence of mutations, by either[] To our knowledge, this is the first description of a human Phk deficiency mutation.[] Phosphorylase b kinase turns on (activates) the enzyme that breaks down glycogen.[]

  • Influenza

    Rimmelzwaan 1 , B. E. E. Martina 2 , T. M. Bestebroer 1 , R. A. M.[] (HA) Protein from Influenza Virus, A/California/04/2009 (H1N1)pdm09, Recombinant from Baculovirus Influenza A virus Proteins BEI Level 1 BEI Number NR-3227 Sendai Virus (formerly[] […] years, using data from a cohort study with 266 children who had received 2 doses (0.25 mL/dose for 3 years old, 0.5 mL/dose for 3 years old) in the 2006/2007 season.[] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[] All problems (adverse events) related to a medicine or medical device used for treatment or in a procedure should be reported to the Medicines and Healthcare products Regulatory[] The Opal Trial: a placebo-controlled phase 2b trial studying pimodivir plus oseltamivir vs. placebo plus oseltamivir in adult and elderly hospitalized patients with influenza[] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[] The H5N1/97 viruses induced much higher gene transcription of proinflammatory cytokines than did H3N2 or H1N1 viruses, particularly TNF alpha and interferon beta.[] This entry describes 2 isoforms i produced by ribosomal frameshifting .[]

  • Spinocerebellar Ataxia Type 12

    Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa[] 2A), regulatory subunit B (PR 52), beta isoform protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform protein phosphatase 2, regulatory subunit B, beta[] 3 UTR clone of protein phosphatase 2 (formerly 2A) regulatory subunit B beta isoform (PPP2R2B) transcript variant 3 for miRNA target validation Product images Specifications[] […] spots, which were confirmed as nine proteins by LC-MS/MS.[] […] presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory[] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[] Product name Recombinant Human PPP2R2B protein Protein length Full length protein Nature Recombinant Source Wheat germ Amino Acid Sequence Accession Species Human Sequence[] SCA12 is linked to a CAG repeat expansion mutation in exon 7 of PPP2R2B, a gene that encodes Bβ, a regulatory subunit of protein phosphatase 2A (PP2A).[] The disease is caused by an expansion of or 51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene.[] Symbol PPP2R2B contributors: mct - updated : 08-01-2017 HGNC name protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform HGNC id 9305 Corresponding[]

    Missing: 2B)
  • LIG4 Syndrome

    We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.[] Formerly, the AMP is transferred to the 5’-PO 4 3- DNA end to generate a covalent DNA-adenylate intermediate (Step 2).[] Am J Med Genet A . 137A (3): 283–7. doi : 10.1002/ajmg.a.30869 . PMID 16088910 . External links [ edit ][] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[] Zebrafish have p53, p63 and p73 genes, as well as the regulatory mdm2 and mdm4 genes (Lu and Abrams, 2006).[] The adenylate is stabilized through hydrophobic stacking interactions with Phe367 and Met430 within the conserved AMP-binding pocket in the NTD (Fig. 2b and Supplementary[] Mikio Shimada, Lavinia C Dumitrache, Helen R Russell and Peter J McKinnon , Polynucleotide kinase–phosphatase enables neurogenesis via multiple DNA repair pathways to maintain[] Epub 2004 Jun 11. 2004 23XRCC6, LIG4, PRKDC, XRCC4, XRCC5 Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4[] PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID LIG4 lig4 LIG4 syndrome 606593 ZEBRAFISH MODELS No data available PHENOTYPE No data available[] Unlike immunoglobulins (Igs), which bind free antigen, the ligands of TCR-alpha/beta are cell surface complexes of intracellularly degraded antigens (i.e., peptides) bound[]

  • Insulin-Like Growth Factor I

    We further used immunohistochemistry (IHC) to examine the relative role of platelet-derived growth factor-B (PDGF-B), insulin-like growth factor I (IGF-I), transforming growth[] RESULTS: The formerly in patients with Laron syndrome and idiopathic short stature reported mutation R179C leads to an amino acid change from an arginine residue (codon CGC[] […] rhIGF-I/rhIGFBP-3.[] The encoded protein is processed from a precursor, bound by a specific receptor, and secreted.[] IGF-I may be a regulatory factor for serum GHBP activity in man.[] […] demonstrate that c-Src, IGF-IR, and FAK are packaged into exosomes (Exo), c-Src in particular being highly enriched in Exo from the androgen receptor (AR)-positive cell line C4-2B[] IGFBP-2 binds to receptor tyrosine phosphatase β (RPTPβ), and this binding in conjunction with IGF-I receptor stimulation induces RPTPβ polymerization leading to phosphatase[] […] with altered growth hormone (GH) secretion, the changes of insulin-like growth factor I (IGF-I), insulin-like growth factor binding protein 3 (IGFBP-3), and acid-labile subunit[] Growth hormone (GH) plays an essential role in controlling somatic growth and in regulating multiple physiological processes in humans and other species.[] The present study aimed to investigate the possible relationship between cognitive function and concentration of IGF-I or amyloid beta protein (Aβ) in serum in Alzheimer's[]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    A., Philip, B. A. and Caskey, C. T.[] […] configuration. [21] [22] Relation to disease [ edit ] Defects in phosphorylase kinase genes are the cause of glycogen storage disease type IX (GSD type IX) and GSD type VI (formerly[] […] enolase 3 enolase 3 enolase 3 (beta, muscle) enolase 3, (beta, muscle) enolase, beta enolase, muscle-specific ENO3 MSE 131370 3354 glucose-6-phosphatase, catalytic subunit[] PHKB 78 Annotation score: H3BQ89 H3BQ89_HUMAN Phosphorylase b kinase regulatory s...[] METABOLISMO DEL FERRO DMT1 DEFICIT DI EMOCROMATOSI EREDITARIA NON DETERMINATA EMOCROMATOSI EREDITARIA TIPO 1 EMOCROMATOSI EREDITARIA TIPO 2 EMOCROMATOSI EREDITARIA TIPO 2B[] The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human haemolysate were investigated.[] Align Add to basket This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.[] […] in dentate & olive Hypothalamus & Cerebellar cortex: Hyaline cell bodies & Axonal spheroids Anterior horn cell loss Lafora's disease (Progressive myoclonic epilepsy 2A & 2B[] (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60[] Cells of tissues that lack glucose 6-phosphatase retain glucose 6-phosphate for internal carbohydrate metabolism.[]

  • Barth Syndrome

    Liu, Y, Sato, T, O’Rourke, B, Marban, E 1998 (1998) Mitochondrial ATP-dependent potassium channels: novel effectors of cardioprotection?[] Formerly, there was a high mortality during infancy and childhood, few patients survived beyond the age of four years [1] .[] [Kelley, RI; Cox G (unpublished)]. 3-Methylglutaconic Aciduria Type II Although a number of patients with Barth syndrome have been said to have normal levels of 3-methylglutaconic[] Combining those profiles with gene set enrichment analysis allows detecting significantly affected protein complexes.[] Cardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and function. J Bioenerg Biomembr . Epub November 29, 2014. 131.[] […] whole heart lysate blots showed significantly higher levels of tafazzin protein present in hearts from Des- TAZ animals treated as adults as compared to CMV and Taz ( Fig. 2B[] Mitochondrial phosphatase PTPMT1 is essential for cardiolipin biosynthesis.[] [Date last reviewed: 2016-09-01] Comments on ortholog(s) Ortholog of human TAZ (1 Drosophila to 1 human).[] . · Beta-carotene : Beta-carotene is a member of the carotenoids, which are very colorful (red, orange, yellow), fat-soluble compounds.[] Interestingly, one of these CL‐dependent subunits (COXVIa) is expressed as a cardiac‐specific isoform and has an important regulatory function, thereby providing a possible[]

  • Hepatitis C Virus

    Dienstag, JD 1983 Non-A, non-B hepatitis. II.[] HCV, HPgV (formerly referred to as GB virus C [GBV-C] or hepatitis G virus), and other genetically related viruses belong to two genera in the Flaviviridae family, Hepacivirus[] […] information 1 Pathology Department, Theodor Bilharz Research Institute, Imbaba, Giza, Egypt. 2 Pharmacology and Toxicology Department, Egyptian-Russian University, Cairo, Egypt. 3[] We propose that all proteins that contain amino acids encoded in the 1 ARF be called alternate reading frame proteins (ARFPs) and that specific ARFPs, such as the ARFP/F-protein[] Salusky and Martin Hewison , Suppression of Iron-Regulatory Hepcidin by Vitamin D , Journal of the American Society of Nephrology , 10.1681/ASN.2013040355 , 25 , 3 , (564-[] A new genotyping system based on PCR of the core region with genotype-specific PCR primers for the determination of HCV genotypes 1a, 1b, 2a, 2b, 3a, 3b, 4, 5a, and 6a was[] […] genetics Dual-Specificity Phosphatases/metabolism* Exoribonucleases/genetics Exoribonucleases/metabolism* Gene Knockout Techniques Genome, Viral Hepacivirus/pathogenicity[] This binding was competitively inhibited by a peptide from the V3 loop of a human immunodeficiency virus glycoprotein subunit (gp120) known to bind with cell surface heparin[] They also cannot easily be reconciled with the recent evidence for species–associated variants of HBV and HGV/GBV–C in a range of non–human primates.[] In this study, it was hypothesized that an abnormal expression of the lysosomal-associated protein transmembrane 4 beta ( LAPTM4B) gene is crucial in the pathogenesis of hepatitis[]

  • Porphyromonas Gingivalis

    Tell a Friend Antigen: Porphyromonas gingivalis (serotype B specific cell surface antigen) Hybridoma Cells Available: No Antigen Species: Porphyromonas gingivalis Depositor[] […] periodontopathogens that includes Porphyromonas gingivalis, Treponema denticola, and "Tannerella forsythia" (opinion on name change from Tannerella forsythensis pending; formerly[] KEYWORDS: Immuno-regulatory; Macrophage orientation; P.g-LPS; β-defensin 3[] UniProt Primary Accession # UniProt Secondary Accession # NCBI Official Full Name Gingipain R1 UniProt Protein Name Gingipain R1 UniProt Synonym Protein Names Arg-gingipain[] We recently demonstrated that the expression of the interferon regulatory factor 6 (IRF6) transcription factor in oral keratinocytes was stimulated by the periodontal pathogen[] TSB and that the cell aggregation phenotypes of the wild-type strain and the derivative strains were correlated with expression and production of the Mfa1 protein (Fig. 2B[] Neither phosphatase was inhibited by up to 5 μM okadaic acid, an inhibitor specific for PPP family serine/threonine phosphatases.[] The anchoring subunit FimB limits fimbrium length and is important for solid fimbrium attachment to the outer membrane.[] […] gingival epithelium (HGE) cells and human periodontal ligament (HPL) cells to produce various inflammatory mediators.[] The following assays were carried out: i) cell viability using MTS, ii) cell morphology by SEM and iii) expression of tumor necrosis factor alpha (TNF-α), interleukin-1 beta[]

  • Coxsackie Virus

    COXSACKIE B VIRUS FACT SHEET What is Coxsackie B Virus? The Coxsackie virus was first isolated in Coxsackie, New York in 1948.[] ‡Instructor in medicine, Baylor University College of Medicine, Houston, Texas; formerly, instructor in medicine, University of Utah College of Medicine.[] Kawada M 1, 2 , Inoue H 1 , Kajikawa M 3 , Sugiura M 3 , Sakamoto S 1 , Urano S 3 , Karasawa C 3 , Usami I 1 , Futakuchi M 4 , Masuda T 1 .[] [bsid125147] PodNet: protein-protein interactions in the podocyte PodNet: protein-protein interactions in the podocyte PodNet is a manually curated network of protein-protein[] In addition, neither stimulation nor inhibition of AT 1 R seemed to be involved in CAR gene regulatory processes.[] A peptide derived from Coxsackie virus 2B protein (pepCoxs) presents 87% sequence homology with the 222-229 region of the major linear B-cell epitope of Ro60 kD autoantigen[] CXADR regulated the stability and function of the phosphatases and AKT inhibitors PTEN and PHLPP2.[] […] expression databases Bgee i ENSG00000154639 Expressed in 222 organ(s), highest expression level in neocortex Genevisible i P78310 HS Organism-specific databases Interaction i Subunit[] Information about CAR expression in normal and diseased human skeletal muscle is lacking.[] (beta-CAR) in plasma as well as activities of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSH-Px) in RBC were determined by using spectrophotometric[]