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2,606 Possible Causes for acetyltransferase, catalytic, histone, subunit, type B

  • LIG4 Syndrome

    Catalytically inactive Dnl4 protein does not impede DSB resection.[journals.plos.org] I 250950 B 4GALT1 9p21.1 Congenital disorder of glycosylation, type IId 607091 B CKDHA 19q13.2 Maple syrup urine disease, type Ia 248600 B CKDHB 6q14.1 Maple syrup urine[institutobernabeu.com] (A) Assessment of histone H2AX phosphorylation (γH2AX) at 1 and 24 hours postirradiation (2 Gy) by MFI ratio.[bloodadvances.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] Glioma Enhanced repair of a cisplatin-damaged reporter chloramphenicol-O-acetyltransferase gene and altered activities of DNA polymerases alpha and beta, and DNA ligase in[brenda-enzymes.org]

  • Congenital Myasthenic Syndrome

    The characterization of mutants showed a decrease in the overall catalytic efficiency of ChAT; in particular, those located near the active-site tunnel produced the most seriously[ncbi.nlm.nih.gov] Rapsyn R91L ( D ) showed reduced self-clustering, but the other mutants ( B, C, E and F ) were similar to wild-type ( A ). Magnification: 60 .[doi.org] We report 2 patients with CMS due to mutations in the AChR epsilon subunit. The first patient carries two heterozygous frameshift mutations, ε127ins5 and ε1293insG.[ncbi.nlm.nih.gov] Genetic testing identified 2 novel choline acetyltransferase mutations (R470X, F580C).[ncbi.nlm.nih.gov] Expression studies in MuSK deficient myotubes revealed that A727V, which is located within the catalytic loop of the enzyme, caused severe impairment of agrin-dependent MuSK[ncbi.nlm.nih.gov]

    Missing: histone
  • Congenital Myasthenic Syndrome

    Rapsyn R91L ( D ) showed reduced self-clustering, but the other mutants ( B, C, E and F ) were similar to wild-type ( A ). Magnification: 60 .[doi.org] The characterization of mutants showed a decrease in the overall catalytic efficiency of ChAT; in particular, those located near the active-site tunnel produced the most seriously[ncbi.nlm.nih.gov] We report 2 patients with CMS due to mutations in the AChR epsilon subunit. The first patient carries two heterozygous frameshift mutations, ε127ins5 and ε1293insG.[ncbi.nlm.nih.gov] Genetic testing identified 2 novel choline acetyltransferase mutations (R470X, F580C).[ncbi.nlm.nih.gov] Expression studies in MuSK deficient myotubes revealed that A727V, which is located within the catalytic loop of the enzyme, caused severe impairment of agrin-dependent MuSK[ncbi.nlm.nih.gov]

    Missing: histone
  • Transient Bullous Dermolysis of the Newborn

    Reduced type VII collagen in the basement membrane zone with granular deposition within the epidermis ( arrow ). (b) Healthy control.[medicaljournals.se] Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex; Belongs to the acetyltransferase family.[string-db.org] Products ] NCBI Protein Information N-alpha-acetyltransferase 15, NatA auxiliary subunit UniProt Protein Name N-alpha-acetyltransferase 15, NatA auxiliary subunit UniProt[mybiosource.com] Nomenclature HGNC (Hugo) NAA15 30782 Cards Entrez_Gene (NCBI) NAA15 80155 N(alpha)-acetyltransferase 15, NatA auxiliary subunit AliasesGa19; MRD50; NARG1; NAT1P; NATH; TBDN[atlasgeneticsoncology.org] Prenatal History: 36-year-old gravida 2 para 1001 Caucasian mother Estimated gestational age, 34 to 35 weeks Blood type O , rapid plasma reagin nonreactive, hepatitis B surface[neoreviews.aappublications.org]

  • Valproic Acid

    One of the four VPA-G binding structures was close enough to the APEH catalytic triad to facilitate VPA-G hydrolysis.[ncbi.nlm.nih.gov] […] by selectively inducing proteasomal degradation of HDAC2, used in the treatment of epilepsy, bipolar disorder and prevention of migraine headaches. 2 Customer Reviews (A,B)[selleckchem.com] Acetylation of histon H3 was detected with ELISA assay.[ncbi.nlm.nih.gov] One of the Mediator subunits, Mediator complex subunit 28 (MED28), has a dual nuclear and cytoplasmic localization and function.[ncbi.nlm.nih.gov] Search for more papers by this author First published: 03 May 2005 Cited by: 9 Abstract Acetylation of histones is cooperatively regulated by two groups of enzymes, histone acetyltransferases[doi.org]

  • Hereditary Sensory Neuropathy

    The activity of the murine DNA methyltransferase Dnmt1 is controlled by interaction of the catalytic domain with the N-terminal part of the enzyme leading to an allosteric[doi.org] Keywords: Anhydrosis, cardiac arrest, hereditary sensory autonomic neuropathy type IV, hyperprexia, self mutilation How to cite this article: Ergül Y, Ekici B, Keskin S.[saudija.org] The human gene implicated in this disease, PRDM12 (PR/SET Domain 12), encodes a transcriptional regulator involved in the regulation of histone H3-K9 dimethylation; it plays[flybase.org] Serine palmitoyltransferase (SPT) is a heterodimeric molecule made up of two subunits, SPTLC1 and SPTLC2.[ncbi.nlm.nih.gov] Both syndromes have mutations in targeting sequence (TS) domain (exons 20-21), which is important in mediating DNA substrate binding to the DNMT1 catalytic domain.[hsan1esociety.org]

  • Spinocerebellar Ataxia Type 12

    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] Banerjee, B. Mondal, M.U. Kulsum, K. Chatterjee, S.S. Jha, P. Chatterjee, S. Choudhury, S.S. Anand, H. Kumar.[mdsabstracts.org] :10 50 Publications: Takashina, T; Kinoshita, I; Kikuchi, J; Shimizu, Y; Sakakibara-Konishi, J; Oizumi, S; Nishimura, M; Dosaka-Akita, H; Combined inhibition of EZH2 and histone[avivasysbio.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] Ataxin-7 is a subunit of the GCN5 histone acetyltransferase complexes, TFTC and STAGA.[themedicalbiochemistrypage.org]

  • Primary Pigmented Nodular Adrenocortical Disease

    CONCLUSIONS: These results indicate that, in human PPNAD tissues, dexamethasone paradoxically stimulates cortisol release through a glucocorticoid receptor-mediated effect on PKA catalytic[ncbi.nlm.nih.gov] Groussin L , Kirschner LS , Vincent-Dejean C , Perlemoine K , Jullian E , Delemer B et al .[doi.org] Chinese researchers also reported somatic non-inheritable mutations in proteins called histones in isolated cases of bilateral macronodular adrenal hyperplasia [4].[csrf.net] Genetically lean mice result from targeted disruption of the RIIb subunit of protein kinase A . Nature 382 , 622–626 (1996). 20. Amieux, P.S. et al .[doi.org] The PKA heterotetrameric holoenzyme is composed of a dimer of regulatory subunits combined with two catalytic subunits.[doi.org]

  • Blepharophimosis-Intellectual Disability Syndrome Type Ohdo

    Three novel mutations in MED12 cause Ohdo syndrome Maat-Kievit-Brunner type. A. T. Vulto-van Silfhout 1 , A. Hoischen 1 , B. W. M. van Bon 1 , W. M. Nillesen 1 , C.[ashg.org] In individuals with SBBYSS, a whole-exome sequencing approach was used to demonstrate de novo protein-truncating mutations in the highly conserved histone acetyltransferase[escholar.manchester.ac.uk] […] syndrome–Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit[eprints.manipal.edu] ., B. LeMarec, S. Odent, J.A.M. J. van den Hurk and A. Hanauer, Oto-palato-digital Syndrome type I: further evidence for assignment of the locus to Xq28.[link.springer.com] Home H3F3A Magic Anti-Histone H3.3 (Phospho S28) monoclonal antibody, clone FQ2985Z Magic Anti-Histone H3.3 monoclonal antibody (DCABH-9699) Rabbit Anti-Human Histone H3.3[creative-diagnostics.com]

    Missing: catalytic
  • Saccharomyces Cerevisiae

    Abstract Removal of an intron from a pre-mRNA by the spliceosome results in the ligation of two exons in the post-catalytic spliceosome (known as the P complex).[ncbi.nlm.nih.gov] However, expression of UbK63R perturbed mitochondrial inheritance in wild-type cells (Fig. 4 , A and B).[jcb.rupress.org] Histone modifications direct chromatin-templated events in the genome and regulate access to DNA sequence information.[ncbi.nlm.nih.gov] We present here the first crystal structure of Cdc11, the terminal subunit of the octameric rod and discuss its structure in relation to its human homologues.[ncbi.nlm.nih.gov] Abstract N-terminal acetylation is a highly abundant protein modification catalyzed by N-terminal acetyltransferases (NATs) NatA-NatG.[ncbi.nlm.nih.gov]