Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing - Wikidata - awgldk - TriplyDB

Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing

Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing

http://www.wikidata.org/entity/Q24634410

about

Ligand binding to WW tandem domains of YAP2 transcriptional regulator is under negative cooperativity PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth Structures of YAP protein domains reveal promising targets for development of new cancer drugs ELM--the database of eukaryotic linear motifs Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 Synthetic peptide arrays for investigating protein interaction domains Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD Versatile communication strategies among tandem WW domain repeats The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons Status quo of annotation of human disease variants.The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells Solution model of the intrinsically disordered polyglutamine tract-binding protein-1.Biophysical basis of the binding of WWOX tumor suppressor to WBP1 and WBP2 adaptors Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome From Rous sarcoma virus to plasminogen activator, src oncogene and cancer management.WW domain interactions regulate the Hippo tumor suppressor pathway.Genome-wide analysis of the WW domain-containing protein genes in silkworm and their expansion in eukaryotes.Characterization of substrate binding of the WW domains in human WWP2 protein.A screen for conditional growth suppressor genes identifies the Drosophila homolog of HD-PTP as a regulator of the oncoprotein Yorkie.Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.Newcomers to the WW Domain-Mediated Network of the Hippo Tumor Suppressor Pathway.

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P2860

Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing

http://www.wikidata.org/entity/Q24634410

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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JBC.M109.084525

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Journal of Biological Chemistry

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Y65C missense mutation in the ...... deregulates pre-mRNA splicing

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Adam C Satteson

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Amjad Farooq

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Caleb B McDonald

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Charles E Schwartz

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Christian J Gaffney

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Emilia Nicolaescu

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Jasper Humbert

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Marius Sudol

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Tsutomu Oka

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Valeria Musi

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P2860

Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription

Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine

A subset of human 35S U5 proteins, including Prp19, function prior to catalytic step 1 of splicing

Characterization of the WW domain of human yes-associated protein and its polyproline-containing ligands

Interaction of WW domains with hematopoietic transcription factor p45/NF-E2 and RNA polymerase II

The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules

SIPP1, a novel pre-mRNA splicing factor and interactor of protein phosphatase-1

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

Sequence logos: a new way to display consensus sequences

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

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19391-401

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4405503

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10.1074/JBC.M109.084525

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25

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285

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Annalisa Pastore

Monique Beullens

Rudolf Volkmer-Engert

Christiane Landgraf

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20410308

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