Výsledky vyhledávání - "K. Schappert"

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Mutational Analysis of Saccharomyces cerevisiae U4 Small Nuclear RNA Identifies Functionally Important Domains

Autor: Y Xu, Jim Hu, K Schappert, James D. Friesen, Deming Xu

Publikováno v: Molecular and Cellular Biology. 15:1274-1285

U4 small nuclear RNA (snRNA) is essential for pre-mRNA splicing, although its role is not yet clear. On the basis of a model structure (C. Guthrie and B. Patterson, Annu. Rev. Genet. 22:387-419, 1988), the molecule can be thought of as having six dom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d32007cae93421d666ae0824eded49
https://doi.org/10.1128/mcb.15.3.1274

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Mutational analysis of the PRP4 protein ofSaccharomyces cerevisiaesuggests domain structure and snRNP interactions

Autor: Jim Hu, K. Schappert, Yan Xu, Anan Wang, J. Mogridge, R. Braga, T. Harrington, James D. Friesen

Publikováno v: Nucleic Acids Research. 22:1724-1734

The PRP4 protein of Saccharomyces cerevisiae is an essential part of the U4/U6 snRNP, a component of the mRNA splicing apparatus. As an approach to the determination of structure-function relationships in the PRP4 protein, we have isolated more than

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7190cac2afc8728f7a9988e0eb42db02
https://doi.org/10.1093/nar/22.9.1724

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Human p68 kinase exhibits growth suppression in yeast and homology to the translational regulator GCN2

Autor: J. D. Friesen, K. Schappert, T. F. Donahue, Bryan R.G. Williams, Ara G. Hovanessian, L. Feng, K. L. Chong, Eliane F. Meurs

Publikováno v: The EMBO Journal. 11:1553-1562

The human p68 kinase is an interferon-regulated enzyme that inhibits protein synthesis when activated by double-stranded RNA. We show here that when expressed in Saccharomyces cerevisiae, the p68 kinase produced a growth suppressing phenotype resulti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feabe72fb1625edc5933e4d80ea1e644
https://doi.org/10.1002/j.1460-2075.1992.tb05200.x

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HLA class I, IIIII genes in confirmed late-onset Alzheimer's disease

Autor: Carole Johnston, K. Schappert, Donald Warden, D J Lehmann, Noor Kalsheker, H. Wiebusch, Kevin Morgan, A. D. Smith, S.E. Marshall, Judes Poirier, K.I. Welsh, John H. Xuereb

Publikováno v: Neurobiology of aging. 22(1)

We first examined all the then known alleles (1997) at the HLA-A, B, Bw, C, DRB1, 3, 4 and 5, and DQB1 loci in 55 late-onset (>65y) AD cases and 73 elderly controls from Oxford. We found an association of HLA-B7 with late-onset AD (odds ratio = 3.1,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5da53a860f0aa33c94ef71db2131f8ae
https://pubmed.ncbi.nlm.nih.gov/11164278

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Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V

Autor: J, Michaud, G N, Thompson, L C, Brody, G, Steel, C, Obie, G, Fontaine, K, Schappert, C G, Keith, D, Valle, G A, Mitchell

Publikováno v: American journal of human genetics. 56(3)

We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bed672f57f1a12fcf5d348288d1d0341
https://pubmed.ncbi.nlm.nih.gov/7887415

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3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency

Autor: G A, Mitchell, M F, Robert, P W, Hruz, S, Wang, G, Fontaine, C E, Behnke, L M, Mende-Mueller, K, Schappert, C, Lee, K M, Gibson, H M, Miziorko

Publikováno v: The Journal of biological chemistry. 268(6)

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) catalyzes the final step of ketogenesis, an important pathway of mammalian energy metabolism. HL deficiency is an autosomal recessive inborn error in man leading to episodes of hypoglycemia and coma. U

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e184414fb636e5843979f74fce17515f
https://pubmed.ncbi.nlm.nih.gov/8440722

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The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates

Autor: C, Collins, K, Schappert, M R, Hayden

Publikováno v: Human molecular genetics. 1(9)

Myosin participates in a varying repertoire of cellular functions ranging from cytokinesis, receptor capping and secretion to sarcomere contraction. In vertebrates this functional complexity is achieved through the regulated expression of gene famili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a2603595abfd2c5797584af11f60259d
https://pubmed.ncbi.nlm.nih.gov/1284596

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