(Q24634410)

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

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

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17

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Monique Beullens

11

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Christiane Landgraf

13

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Rudolf Volkmer-Engert

14

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Annalisa Pastore

15

object named as

Annalisa Pastore

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author name string

Victor E Tapia

1

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Emilia Nicolaescu

2

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Caleb B McDonald

3

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Valeria Musi

4

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Tsutomu Oka

5

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Yujin Inayoshi

6

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Adam C Satteson

7

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Virginia Mazack

8

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Jasper Humbert

9

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Christian J Gaffney

10

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Charles E Schwartz

12

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Amjad Farooq

16

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Marius Sudol

18

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language of work or name

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publication date

18 June 2010

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Journal of Biological Chemistry

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285

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25

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19391-401

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Sequence logos: a new way to display consensus sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Structural analysis of WW domains and design of a WW prototype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

WebLogo: A Sequence Logo Generator

1 reference

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7 April 2017

Comparative protein structure modeling of genes and genomes

1 reference

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7 April 2017

Mst2 and Lats kinases regulate apoptotic function of Yes kinase-associated protein (YAP)

1 reference

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7 April 2017

Renpenning syndrome comes into focus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

WW and SH3 domains, two different scaffolds to recognize proline-rich ligands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

The WW domain: a signalling site in dystrophin?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Rapid measurement of binding constants and heats of binding using a new titration calorimeter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Expression cloning of a cDNA encoding a retinoblastoma-binding protein with E2F-like properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

7 April 2017

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Cell regulation: determined to signal discrete cooperation

1 reference

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Synthesis and application of peptide arrays: quo vadis SPOT technology

1 reference

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27 September 2017

Nature of the nuclear inclusions formed by PQBP1, a protein linked to neurodegenerative polyglutamine diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Repressing the neuron within

1 reference

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Construction of two recombination yeast two-hybrid vectors by in vitro recombination

1 reference

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27 September 2017

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Nucleocytoplasmic shuttling of the splicing factor SIPP1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Common mechanism of ligand recognition by group II/III WW domains: redefining their functional classification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

A map of WW domain family interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Therapeutic approaches to protein-misfolding diseases

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

A double reporter assay for detecting changes in the ratio of spliced and unspliced mRNA in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Oxidants painting the cysteine chapel: redox regulation of PTPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

NeW wrinkles for an old domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

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27 September 2017

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

27 September 2017

Rsp5 WW domains interact directly with the carboxyl-terminal domain of RNA polymerase II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

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Conformation of the RNA polymerase II C-terminal domain: circular dichroism of long and short fragments.

1 reference

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Aromatic Contributions To Circular Dichroism Spectra Of Protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

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Sequence determinants of thermodynamic stability in a WW domain--an all-beta-sheet protein

1 reference

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Design and NMR conformational study of a beta-sheet peptide based on Betanova and WW domains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

30 May 2018

PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2885219

30 May 2018

Characterization of the structure and function of W --> F WW domain variants: identification of a natively unfolded protein that folds upon ligand binding

1 reference

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Knock-down of PQBP1 impairs anxiety-related cognition in mouse.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.084525

21 January 2018

PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.084525

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