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4,064 Possible Causes for 2A, B56, Delta, Phosphatase, Protein, Regulatory, Subunit

Did you mean: 2A, B56, death, Phosphatase, proteus, Regulatory, Subunit

  • Spinocerebellar Ataxia Type 12

    McCright B, Rivers AM, Audlin S, Virshup DM: The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target[] (C) Seven interruption alleles were observed based on the number of ATTCT repeats observed within each polymorphic stretch (alpha, beta, gamma, delta, epsilon, zeta and eta[] […] 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.[] […] spots, which were confirmed as nine proteins by LC-MS/MS.[] 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[] 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).[]

  • Cantharidin

    Clin Auton Res 11:303–307 CrossRef PubMed Google Scholar Sommer LM, Cho H, Choudhary M, Seeling JM (2015) Evolutionary analysis of the B56 gene family of PP2A regulatory subunits[] ., DNA polymerase delta), DNA repair (e.g., FANCG, ERCC), energy metabolism (e.g., isocitrate dehydrogenase alpha, ADP/ATP translocase), but also decreased expression of genes[] […] drug effects T-Lymphocytes, Regulatory/immunology T-Lymphocytes, Regulatory/radiation effects Substances CTLA-4 Antigen Ctla4 protein, mouse Cantharidin[] Its cytotoxicity is believed to be mediated by the inhibition of serine/threonine protein phosphatase 2A.[] […] α (IKKα) and NF‑κB inhibitor α (IκBα) in cells, and an increased NF‑κB p65 subunit level in the nucleus.[] […] synthetic organic product HTML Stuart Fairall De Montfort University May 1996 Ferrocene The well known organo-metallic sandwich HTML Karl Harrison University of Oxford Apr 1996 Delta-THC[] […] cell-permeable, potent and specific inhibitor of serine/threonine protein phosphatases 1 2 and 2A 3 by competitively docking in the ligand binding site at the beta catalytic subunit[]

  • Influenza

    […] associated with pandemic (H1N1) 2009 virus infection among adults using a global clinical site network approach: The INSIGHT FLU 002 and FLU 003 studies , Vaccine , 29 , (B56[] But the tragedy of the disease is most evident in the Nile Delta region north of Cairo, the nation's breadbasket and now an incubator of fear and bird flu.[] 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[] Amplicons were prepared for sequencing by incubating them at 37  C for 60 min with 0.5 U of shrimp alkaline phosphatase (Amersham) and 1 U of exonuclease I (Amersham) to inactivate[] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[] Influenza virus M2 protein is an integral membrane protein expressed on the infected-cell surface. Cell 40 , 627–633 (1985). 5. Zebedee, S.L. & Lamb, R.A.[] […] und -2, Coxsackie-Virus Typ B1 und A7 Feld D: Echo-Virus Typ 7, Borrelia afzelii, burgdorferi (CH), garinii Feld E: CMV, Haemophilus influenzae*, Listeria monocytogenes 1/2a[]

  • Phosphorylase Kinase Deficiency

    PHK consists of four different subunits, alpha, beta, gamma, and delta.[] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[] […] 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[] 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[] Furthermore, the enzyme phosphorylase kinase (PK) has alpha, beta, gamma, and delta subunits, in which specific mutations can occur.[]

    Missing: B56
  • Carney Complex

    This type of calcium channel exists of four subunits (alpha, beta, gamma and alpha2–delta).[] Carney complex (CNC) is a hereditary multiple neoplasia syndrome resulting from inactivating mutations of the gene encoding the PKA type I alpha regulatory subunit (PRKAR1A[] PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. ‏[] To accomplish this goal, we introduced null alleles of the PKA catalytic subunits Prkaca (Ca) or Prkacb (Cb) into the Prkar1a-cardiac knockout (R1a-CKO) or limited Schwann[] The medical resident who initially saw the patient noted an unusual skin finding: “deeply pigmented moles cover most of body” (Fig. 2A).[] Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer.[] […] affects protein folding had no effect.[]

    Missing: B56
  • Lafora Disease

    KEYWORDS: EEG; Lafora disease; Progressive myoclonic epilepsy; autoimmune encephalitis; epilepsy; extreme delta brush[] Here we show that, in addition, laforin interacts with itself and with the glycogen targeting regulatory subunit R5 of protein phosphatase 1 (PP1).[] Laforin contains a dual specificity phosphatase domain and a carbohydrate-binding module, and is a member of the recently described family of glucan phosphatases.[] Binary interactions i GO - Molecular function i identical protein binding Protein-protein interaction databases Structure i 3D structure databases Family & Domains i Phylogenomic[] (disorder) Lafora's disease MYOCLONIC EPILEPSY OF LAFORA Melf Epilepsy, Progressive Myoclonic, 2B Progressive myoclonus epilepsy type 2 Epilepsy, Progressive Myoclonic, 2A[] Electroencephalogram (EEG) showed bilateral diffuse low voltage, delta waves slowing with frequent generalized, multifocal spike discharges.[] In fact, laforin is expected to have additional functional domains involved in the interaction with putative regulatory subunits or with the in vivo substrates.[]

    Missing: B56
  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    The delta subunit is a calmodulin and can be encoded by three different genes.[] PHKB 78 Annotation score: H3BQ89 H3BQ89_HUMAN Phosphorylase b kinase regulatory s...[] , catalytic subunit glucose-6-phosphatase, catalytic (glycogen storage disease type i, von gierke disease glucose-6-phosphatase, catalytic, 1 G6PC G6PC1 G6PT GSD1A 613742[] […] kinases such as protein kinase A (PKA, cAMP-dependent kinase).[] The phosphorylation sites in glycogen synthase are identified as site 1a, 1b, 2, 2a, 3a, 3b, 3c, 4, and 5 with sites 2, 2a, 3a, and 3b being the most significant with respect[] Cells of tissues that lack glucose 6-phosphatase retain glucose 6-phosphate for internal carbohydrate metabolism.[] Cobalamin-Stoffwechsel- und Transport-Störung Coenzym Q10-Mangel Colipase-Mangel Cutis laxa, autosomal-rezessive, Typ 2, klassische Cutis laxa, autosomal-rezessive, Typ 2A[]

    Missing: B56
  • Activated PI3K-Delta Syndrome

    Homepage Rare diseases Search Search for a rare disease Activated PI3K-delta syndrome Disease definition Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency[] Location: Discovery Centre (CTIR) Room 2.84 - Sir Kenneth & Lady Noreen Murray Seminar Room Mutations in the PIK3CD and PIK3R1 genes encoding the p110delta catalytic and p85 regulatory[] SATURDAY, JANUARY 21 08:00—11:15 Phosphatases Meeting has ended...abstracts no longer viewable online. * Len R. Stephens , Babraham Institute, UK * Brendan D.[] It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...[] PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110δ protein.[] These trials are usually a kind of Phase 2a medical trial called proof of concept.[] […] of genetics, activated PI3K Delta Syndrome is autosomal dominant, a mutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform is the reason[]

    Missing: B56
  • Interferon Alpha

    […] antigen, A-24 alpha chain p-Y701-STAT1-1 IFNA class I MHC B73 IRF9 IP6K2 gene RSAD2 STAT1-1 HLA class I histocompatibility antigen, A-1 alpha chain precursor class I MHC B56[] On the basis of their sequence interferons are classified into five groups: alpha, alpha-II (or omega), beta, delta (or trophoblast) and gamma.[] Kaposi's sarcoma-associated herpesvirus (KSHV) utilizes a unique antagonistic mechanism of type I IFN-mediated host antiviral immunity by incorporating four viral interferon regulatory[] 660 nnm 0.1 mg/mL PBS, 0.1% BSA, 0.05% azide BNCP PerCP 482/677 nm 0.1 mg/mL PBS, 0.1% BSA, 0.05% azide BNCB Biotin N/A 0.1 mg/mL PBS, 0.1% BSA, 0.05% azide BNCAP Alkaline Phosphatase[] , IFNAR1 (α-subunit) and IFNAR2 (β-subunit).[] Product name Protein length Protein fragment Nature Recombinant Source Escherichia coli Amino Acid Sequence Species Human Sequence MCDLPETHSL DNRRTLMLLA QMSRISPSSC LMDRHDFGFP[] Pegylated interferon alpha 2a (PEG-IFN alpha 2a) alone, in combination with ribavirin and with or without direct acting antivirals (DAAs) is modestly effective in the treatment[]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    The delta subunit is a calmodulin and can be encoded by three different genes.[] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[] […] 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[] ITPR1 isoform 1 is a 2710 amino acid protein, isoform 2 is a 2695 amino acid protein, and isoform 3 is a 2743 amino acid protein.[] Deficiency of glucose-6-phosphate dehydrogenase Generalized glycogen storage disease of infants Glucose 6 phosphatase deficiency Glycogen storage disease Glycogen storage[] […] kinase, alpha 2 (liver) PHKA2 PHK PYK 300798 8926 phosphorylase kinase regulatory subunit, beta phosphorylase kinase, beta PHKB 172490 8927 phosphorylase kinase regulatory[] […] deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A[]

    Missing: B56