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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.[thesgc.org] […] 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[en.wikipedia.org] The patient showed normal levels of PhK alpha L mRNA.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] […] 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[ncbi.nlm.nih.gov] […] 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[orpha.net] 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[ncbi.nlm.nih.gov] To our knowledge, this is the first description of a human Phk deficiency mutation.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia Type 12

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

  • 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[ncbi.nlm.nih.gov] (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[beiresources.org] Secretion of tumour necrosis factor alpha (TNF alpha) from macrophages infected with the viruses was compared by ELISA.[ncbi.nlm.nih.gov] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[dx.doi.org] Human-derived viruses preferentially recognizing SAα2,6Gal efficiently infected epithelial cells lining the bronchi and alveolar cells ( Fig. 2a, b ), whereas avian viruses[doi.org] Labels are as in A , except that green pins represent residues involved in sialidase catalytic activity. HA and NA Gene Products.[doi.org] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[scielo.org.ar] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[ncbi.nlm.nih.gov] This entry describes 2 isoforms i produced by ribosomal frameshifting .[uniprot.org] 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[doi.org]

  • LIG4 Syndrome

    […] as seckel-type dwarfism 2, microcephalic primordial dwarfism 2.[mendelian.co] Formerly, the AMP is transferred to the 5’-PO 4 3- DNA end to generate a covalent DNA-adenylate intermediate (Step 2).[wjgnet.com] […] 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[scinapse.io] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org] Residual NHEJ in the above suicide deletion experiments cannot have been catalyzed by Dnl4-K282R as it cannot be adenylated (see Figure 2A ).[journals.plos.org] Mikio Shimada, Lavinia C Dumitrache, Helen R Russell and Peter J McKinnon , Polynucleotide kinase–phosphatase enables neurogenesis via multiple DNA repair pathways to maintain[doi.org] 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[genatlas.medecine.univ-paris5.fr] 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[zfin.org] This entry has 1 described isoform and 1 potential isoform that is computationally mapped.[uniprot.org] […] important vertebrate Gtf that -O-GlcNAcylates a multitude of nuclear and cytoplasmic protein, including transcription elements, cytoskeletal protein, metabolic enzymes, kinases, phosphatases[perlierusa.com]

  • 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[patient.info] […] 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[medical-dictionary.thefreedictionary.com] For transduction studies, a full-length human E1 alpha CDNA was inserted into the retroviral vector LXSN to produce the recombinant LSN-E1 alpha.[biochemj.org] Zero levels of protein should be given at this stage.[zekesfundraiser.org.au] […] deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A[se-atlas.de] 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.[www4.utsouthwestern.edu] 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[themedicalbiochemistrypage.org] No detectable assembly of the F364C E1α subunit with normal E1β was observed during the 2 h chase.[utsouthwestern.influuent.utsystem.edu] 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[ncbi.nlm.nih.gov] […] 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[wvdhhr.org]

  • 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[ukgtn.nhs.uk] […] 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[en.wikipedia.org] […] loss in dentate & olive Hypothalamus & Cerebellar cortex: Hyaline cell bodies & Axonal spheroids Anterior horn cell loss Lafora's disease (Progressive myoclonic epilepsy 2A[neuromuscular.wustl.edu] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[uniprot.org] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[uniprot.org] The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human haemolysate were investigated.[ncbi.nlm.nih.gov] Cells of tissues that lack glucose 6-phosphatase retain glucose 6-phosphate for internal carbohydrate metabolism.[sandwalk.blogspot.com] 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[icd10data.com] 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.[quizlet.com] 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[rarediseases.info.nih.gov]

  • Mucolipidosis

    Background information for Mucolipidosis, Type IV ( MCOLN1), 2 Variants: Characteristics: Mucolipidosis type IV is characterized by early onset of severe psychomotor delay[ltd.aruplab.com] […] 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[ucl.ac.uk] 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[medlink.com] Identifying proteins that associate with TRPML1 will facilitate the elucidation of its cellular and biochemical functions.[ncbi.nlm.nih.gov] We further show that the amount of lysosomal-associated membrane protein type 2A (LAMP-2A) is reduced in lysosomal membranes of MLIV fibroblasts.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] The activities of serum alkaline phosphatase and parathyroid hormone were markedly elevated. Phosphorus was decreased.[ncbi.nlm.nih.gov] ), does not appear to alter γ subunit function.[ncbi.nlm.nih.gov] 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[flybase.org] 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[ncbi.nlm.nih.gov]

  • Acrodysostosis

    Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations[ncbi.nlm.nih.gov] 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[books.google.com] […] have been shown in the Gs alpha gene.[ncbi.nlm.nih.gov] CRE-luciferase reporter assays indicated significantly impaired response of protein kinase A to cAMP in the HEK293 cells expressing the mutant p.T239A protein.[ncbi.nlm.nih.gov] 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[nejm.org] 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[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov] Copyright 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov] We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation.[ncbi.nlm.nih.gov] 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[abstracts.eurospe.org]

  • 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.[doi.org] 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[doi.org] The patient started intravenous (IV) methylprednisolone followed by oral prednisolone; simultaneously, interferon-alpha and ribavirin.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] Crystal structures of the RNA-dependent RNA polymerase genotype 2a of hepatitis C virus (HCV) from two crystal forms have been determined.[ncbi.nlm.nih.gov] The modular, bi-partite fingers domain carries a long binding groove which guides the template towards the catalytic site.[ncbi.nlm.nih.gov] […] genetics Dual-Specificity Phosphatases/metabolism* Exoribonucleases/genetics Exoribonucleases/metabolism* Gene Knockout Techniques Genome, Viral Hepacivirus/pathogenicity[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] 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.[doi.org] Subcellular localization of OCLN protein isoforms.[doi.org]

  • Interleukin-2

    […] low dose rIL-2.[doi.org] […] 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[perkinelmer.com] The structure of interleukin-2 complexed with its alpha receptor.[rcsb.org] 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[ebi.ac.uk] […] 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[ncbi.nlm.nih.gov] […] 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[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] Technical specifications of human IL2 kit Sample size 16 µL Final assay volume 20 µL Kit components Lyophilized standard, frozen detection antibodies, buffers &protocol.[cisbio.com] GENCODE basic PRINCIPAL1 - APPRIS candidate principal isoform.[ensembl.org] Dinutuximab (formerly ch14.18) is a human/mouse chimeric antibody that contains murine retroviruses and is unavailable in Europe.[am.asco.org]