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4,533 Possible Causes for (formerly, 2, 2A),, alpha, catalytic, human, isoform,, phosphatase, protein, subunit

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  • Phosphorylase Kinase Deficiency

    Column 2: 5ml HiTrap S Column 2 Buffers : Buffer A: 25 mM HEPES, pH 7.0; 200 mM NaCl; 0.5 mM TCEP. Buffer B: 25 mM HEPES, pH 7.0; 2 mM NaCl; 0.5 mM TCEP.[] […] 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[] The patient showed normal levels of PhK alpha L mRNA.[] 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[] 4/12 M IX PHKA2 33 c.3614C T p.Pro1205Leu 9 1 7/12 F IX PHKA2 33 c.3614C T p.Pro1205Leu 10 2 6/12 M IX PHKA2 – DelXp22.13 – 11 7 10/12 M IX PHKB 14 c.1265dup – 27 c.2316-2A[] […] to the skipping of exon 4, which results in a frameshift, starting at nucleotide 272, a premature stop codon after 32 additional amino acids, and subsequent loss of the catalytic[] […] 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.[] However, in three of five patients, we identified identical heterozygous R531Q missense mutations of the PRKAG2 gene, which encodes the gamma 2-subunit of AMP-activated protein[]

  • Spinocerebellar Ataxia Type 12

    Postepy Biochem. 2005;51(2):215-22. Chai Y, Wu L, Griffin JD, Paulson HL.[] 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[] […] cerebellar and pontine atrophy, and neuronal intranuclear ubiquitin-positive inclusions, consistent with Marinesco bodies, which did not stain for long polyglutamine tracts, alpha-synuclein[] […] spots, which were confirmed as nine proteins by LC-MS/MS.[] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[] Functional PP2A consists of a structural unit, one of two catalytic units, and one of 30 regulatory subunits, with the N-terminal region of the regulatory subunits serving[] […] action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit[] Product name Recombinant Human PPP2R2B protein Protein length Full length protein Nature Recombinant Source Wheat germ Amino Acid Sequence Accession Species Human Sequence[] -1-AR (alpha-1A, alpha-1B, a...[] 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).[]

  • Influenza

    Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug, 2,6-diamino-purine-2'-fluororiboside[] (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[] Secretion of tumour necrosis factor alpha (TNF alpha) from macrophages infected with the viruses was compared by ELISA.[] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[] Human-derived viruses preferentially recognizing SAα2,6Gal efficiently infected epithelial cells lining the bronchi and alveolar cells ( Fig. 2a, b ), whereas avian viruses[] Labels are as in A , except that green pins represent residues involved in sialidase catalytic activity. HA and NA Gene Products.[] 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.[] This entry describes 2 isoforms i produced by ribosomal frameshifting .[] DOI: 10.1128/AAC.38.8.1864 ABSTRACT Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug[]

  • LIG4 Syndrome

    […] as seckel-type dwarfism 2, microcephalic primordial dwarfism 2.[] Formerly, the AMP is transferred to the 5’-PO 4 3- DNA end to generate a covalent DNA-adenylate intermediate (Step 2).[] […] beta (TCR-alpha/beta) is encoded by variable (V), diversity (D), joining (J), and constant (C) segments assembled by recombination during thymocyte maturation to produce[] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[] Residual NHEJ in the above suicide deletion experiments cannot have been catalyzed by Dnl4-K282R as it cannot be adenylated (see Figure 2A ).[] 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[] This entry has 1 described isoform and 1 potential isoform that is computationally mapped.[] […] important vertebrate Gtf that -O-GlcNAcylates a multitude of nuclear and cytoplasmic protein, including transcription elements, cytoskeletal protein, metabolic enzymes, kinases, phosphatases[]

  • Intermediate Maple Syrup Urine Disease

    Maple syrup odour in cerumen is the first clinical sign of MSUD and is present 12-24 hours after birth. [ 2 ] Symptoms otherwise develop in neonates aged 2-3 days (breast-feeding[] […] dinitro-phenylhydrazine test for α keto amino acids, which form insoluble hydrazines Treatment Dietary of BCAA, plus dietary overload–20-fold excess of thiamine Prognosis Mortality was formerly[] For transduction studies, a full-length human E1 alpha CDNA was inserted into the retroviral vector LXSN to produce the recombinant LSN-E1 alpha.[] Zero levels of protein should be given at this stage.[] […] deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A[] In "Thiamin: Catalytic Mechanisms and Roles in Normal and Disease States" (Jordan, F., and Patel, M. S. eds.) Marcel Dekker, Inc., New York, pp. 449-469, 2004.[] The phosphatase that removes the inhibitory phosphate is encoded by the PPM1K (protein phosphatase, Mg 2 /Mn 2 dependent 1K) gene located on chromosome 4q22.1 and is composed[] No detectable assembly of the F364C E1α subunit with normal E1β was observed during the 2 h chase.[] Conversely, human amnion epithelial cells (hAEC) may have utility as a hepatocyte substitute, and they share many of the characteristics of pluripotent embryonic stem cells[] […] dietary therapy, vitamin therapy (thiamine and biotin), and lipoic acid have been tried without success. 122 Pathophysiology The BCKD complex is a macromolecule composed of 3 catalytic[]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    […] regulatory subunit, gamma 2 phosphorylase kinase, gamma 2 (testis) phosphorylase kinase, testis/liver, gamma-2 PHKG2 172471 8931[] […] 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[] […] loss in dentate & olive Hypothalamus & Cerebellar cortex: Hyaline cell bodies & Axonal spheroids Anterior horn cell loss Lafora's disease (Progressive myoclonic epilepsy 2A[] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[] The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human haemolysate were investigated.[] Cells of tissues that lack glucose 6-phosphatase retain glucose 6-phosphate for internal carbohydrate metabolism.[] An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an[] The glycogen stores in the muscle can never be used for release of glucose into the blood, as muscle does not contain the enzyme glucose 6-phosphatase.[] Muscle-specific isoforms of the alpha and gamma subunits are encoded by the PHKA1 gene and the PHKG1 gene respectively, but until now mutations have been only identified in[]

  • Mucolipidosis

    Background information for Mucolipidosis, Type IV ( MCOLN1), 2 Variants: Characteristics: Mucolipidosis type IV is characterized by early onset of severe psychomotor delay[] […] information from NORD , the National Organization for Rare Disorders (US site) PubMed Medline search on Mucolipidoses Support Groups Metabolic Support UK Metabolic Support UK (formerly[] III alpha/beta , ML II , ML II alpha/beta, inclusion cell disease, ML III , ML III alpha/beta , mucolipidosis II alpha/beta, mucolipidosis III alpha/beta, I-cell disease[] Identifying proteins that associate with TRPML1 will facilitate the elucidation of its cellular and biochemical functions.[] We further show that the amount of lysosomal-associated membrane protein type 2A (LAMP-2A) is reduced in lysosomal membranes of MLIV fibroblasts.[] We show that the Stealth domain harbors the catalytic site, as some mutations in these regions greatly impaired the activity of the enzyme without affecting its Golgi localization[] The activities of serum alkaline phosphatase and parathyroid hormone were markedly elevated. Phosphorus was decreased.[] ), does not appear to alter γ subunit function.[] Dmel\ Trpml shares 41% identity and 60% similarity with human MCOLN3; 38% identity and 60% similarity with human MCOLN2; and 37% identity and 56% similarity with human MCOLN1[] Using the whole-lysosome planar patch-clamp technique, we found that activation of MLIV mutant isoforms by the endogenous ligand PI(3,5)P2 is strongly reduced, while activity[]

  • Acrodysostosis

    Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations[] Han-Ting Zhang received his M.D. from Southern Medical University (formerly the First Military Medical University) in Guangzhou and M.S. and Ph.D. of Pharmacology from Beijing[] […] have been shown in the Gs alpha gene.[] CRE-luciferase reporter assays indicated significantly impaired response of protein kinase A to cAMP in the HEK293 cells expressing the mutant p.T239A protein.[] All patients had a sharp rise in urinary cAMP after infusion of human recombinant parathyroid hormone (Fig. 2A in the Supplementary Appendix ); peak values were slightly lower[] Serum calcium and alkaline phosphatase levels were high, parathormone (PTH) was low, but 25 (OH) Vitamin D, albumin, and 24 hour urine calcium levels were in the normal range[] The crystal structure of a monomeric form of this mutant (RIα92-365) bound to the catalytic (C)-subunit reveals the dysfunctional regions of the RIα subunit.[] Copyright 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.[] We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation.[] Calcium was 9.5 mg/dl, phosphorus 6 mg/dl, alkaline phosphatase 304 IU/l, parathormone 303 pg/ml, 25 (OH) vitamin D 22.4 ng/ml, thyroid-stimulating hormone 11.5 mIU/ml, fT[]

  • Hepatitis C Virus

    In this paper, we study the molecular epidemiology of HCV genotype 2 in its region of endemic origin, west and central Africa.[] 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[] The patient started intravenous (IV) methylprednisolone followed by oral prednisolone; simultaneously, interferon-alpha and ribavirin.[] 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[] Crystal structures of the RNA-dependent RNA polymerase genotype 2a of hepatitis C virus (HCV) from two crystal forms have been determined.[] The modular, bi-partite fingers domain carries a long binding groove which guides the template towards the catalytic site.[] […] 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.[] Subcellular localization of OCLN protein isoforms.[]

  • Interleukin-2

    […] low dose rIL-2.[] […] alternative technology Sensitive detection Broad sample compatibility Small sample volume Results in less than 3 hours Half the time of an ELISA assay Interleukin 2 (IL2), formerly[] The structure of interleukin-2 complexed with its alpha receptor.[] Search results for IL2 Gene & protein summaries for IL2 Gene summary for IL2 Gene & protein summary for IL2 ORGANISMS human Homo sapiens human Homo sapiens house mouse Mus[] […] expression in human Th17 cells is retinoic acid orphan receptor (ROR)γt-dependent, and allows the upregulation of PPP2R2B, a regulatory member of the protein phosphatase 2A[] […] organism-specific biosystem (from REACTOME) G beta:gamma signalling through PI3Kgamma, organism-specific biosystem PI3K gamma (PI3KG) is a heterodimer consisting of a p110 catalytic[] Increased phosphorylation of VE-cadherin was also accompanied by a reduction of Src homology 2 domain-containing protein-tyrosine phosphatase 2, known to maintain vascular[] Technical specifications of human IL2 kit Sample size 16 µL Final assay volume 20 µL Kit components Lyophilized standard, frozen detection antibodies, buffers &protocol.[] GENCODE basic PRINCIPAL1 - APPRIS candidate principal isoform.[] Dinutuximab (formerly ch14.18) is a human/mouse chimeric antibody that contains murine retroviruses and is unavailable in Europe.[]