When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
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Mutation analysis of LMX1B gene in nail-patella syndrome patientsHuman RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta.A novel nemaline myopathy in the Amish caused by a mutation in troponin T1Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay.Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1.Mammalian orthologues of a yeast regulator of nonsense transcript stabilityIdentification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disordersThe peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptorThe surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAsCloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 proteinClassification of gas5 as a multi-small-nucleolar-RNA (snoRNA) host gene and a member of the 5'-terminal oligopyrimidine gene family reveals common features of snoRNA host genes.Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixIsolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valineThe exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: dynamics of mRNP remodeling.X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disordersThe spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)Structural and functional analysis of an mRNP complex that mediates the high stability of human beta-globin mRNANovel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexesSMG-2 is a phosphorylated protein required for mRNA surveillance in Caenorhabditis elegans and related to Upf1p of yeastThe spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctionsPre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctionsA specific subset of SR proteins shuttles continuously between the nucleus and the cytoplasmEnhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapyThe molecular genetics of Marfan syndrome and related microfibrillopathiesPseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporterThe acute myeloid leukemia-associated protein, DEK, forms a splicing-dependent interaction with exon-product complexesHigh proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague areaNMD3 encodes an essential cytoplasmic protein required for stable 60S ribosomal subunits in Saccharomyces cerevisiae.Posttranscriptional control of gene expression in yeast.Upf1p control of nonsense mRNA translation is regulated by Nmd2p and Upf3pGenetic and biochemical characterization of mutations in the ATPase and helicase regions of the Upf1 proteinClear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.Evidence that phosphorylation of human Upfl protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathwayNonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissuesRegulated tissue-specific expression of antagonistic pre-mRNA splicing factors.Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene
P2860
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P2860
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
When cells stop making sense: ...... etabolism in vertebrate cells.
@ast
When cells stop making sense: ...... etabolism in vertebrate cells.
@en
When cells stop making sense: ...... etabolism in vertebrate cells.
@nl
type
label
When cells stop making sense: ...... etabolism in vertebrate cells.
@ast
When cells stop making sense: ...... etabolism in vertebrate cells.
@en
When cells stop making sense: ...... etabolism in vertebrate cells.
@nl
prefLabel
When cells stop making sense: ...... etabolism in vertebrate cells.
@ast
When cells stop making sense: ...... etabolism in vertebrate cells.
@en
When cells stop making sense: ...... etabolism in vertebrate cells.
@nl
P2860
P1433
P1476
When cells stop making sense: ...... metabolism in vertebrate cells
@en
P2093
P2860
P304
P407
P577
1995-07-01T00:00:00Z