PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

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PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1101/GAD.212308.112
P3181OpenCitations bibliographic resource ID3840903
P932PMC publication ID3613609
P698PubMed publication ID23512658

P50authorPamela SilverQ7129257
P2093author name stringMichael J Moore
Guillaume Adelmant
Jarrod A Marto
Qingqing Wang
P2860cites workAssociation of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginineQ22010920
A subset of human 35S U5 proteins, including Prp19, function prior to catalytic step 1 of splicingQ24294927
A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch siteQ24522607
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophyQ24617996
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicingQ24634410
GoMiner: a resource for biological interpretation of genomic and proteomic dataQ24796534
DAVID: Database for Annotation, Visualization, and Integrated DiscoveryQ27499374
Gene Expression Omnibus: NCBI gene expression and hybridization array data repositoryQ27860523
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resourcesQ27860739
Alternative isoform regulation in human tissue transcriptomesQ27861118
Interpreting cancer genomes using systematic host network perturbations by tumour virus proteinsQ28117120
The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granulesQ28117445
The VASE exon downregulates the neurite growth-promoting activity of NCAM 140Q59067906
The spliceosome: design principles of a dynamic RNP machineQ28131809
Mechanisms of alternative pre-messenger RNA splicingQ28131822
PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domainQ28139548
PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survivalQ28144288
CLIP identifies Nova-regulated RNA networks in the brainQ28184312
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationQ28186625
Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell deathQ28204152
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaQ28214347
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)Q28215649
Renpenning syndrome comes into focusQ28241108
RNA-binding proteins: modular design for efficient functionQ28300258
Regulation of dendritic development by the ARF exchange factor ARNOQ28578453
Widespread transcription at neuronal activity-regulated enhancersQ29614330
Dendritic organization in the neurons of the visual and motor cortices of the catQ29616515
The neuronal Arf GAP centaurin alpha1 modulates dendritic differentiationQ33607496
Alternative RNA splicing in the nervous systemQ33953763
An alternative splicing network links cell-cycle control to apoptosisQ34077168
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).Q34084780
Nuclear specklesQ34142111
The splice of life: alternative splicing and neurological diseaseQ34186276
Nova regulates brain-specific splicing to shape the synapseQ34436585
Splicing in disease: disruption of the splicing code and the decoding machineryQ34582131
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brainQ35074709
Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell linesQ35399488
Alternative splicing of Bcl-2-related genes: functional consequences and potential therapeutic applications.Q35874924
DNA ends alter the molecular composition and localization of Ku multicomponent complexesQ36144172
Expression of the unique NCAM VASE exon is independently regulated in distinct tissues during developmentQ36224017
Splicing regulation in neurologic diseaseQ36610357
Mechanisms that regulate establishment, maintenance, and remodeling of dendritic fieldsQ36766883
PQBP-1 is expressed predominantly in the central nervous system during development.Q38320546
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.Q39784685
SAP155 Binds to ceramide-responsive RNA cis-element 1 and regulates the alternative 5' splice site selection of Bcl-x pre-mRNA.Q40264404
Axon growth is enhanced by NCAM lacking the VASE exon when expressed in either the growth substrate or the growing axonQ41547590
Neural cell adhesion molecules of the immunoglobulin superfamily: role in axon growth and guidanceQ41689383
Expression of NCAM containing VASE in neurons can account for a developmental loss in their neurite outgrowth response to NCAM in a cellular substratumQ42770613
RNA recognition by RNP proteins during RNA processingQ47910934
VASE-encoded peptide modifies NCAM- and L1-mediated neurite outgrowthQ48615134
P4510describes a project that usesImageJQ1659584
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectdisabilityQ12131
intellectual disabilityQ183560
disability affecting intellectual abilitiesQ3317827
neuriteQ1534415
regulation of RNA splicingQ14864485
alternative mRNA splicing, via spliceosomeQ21114084
Polyglutamine binding protein 1Q21118929
Serine and arginine-rich splicing factor 2Q21499235
Polyglutamine binding protein 1Q21988466
P304page(s)615-26
P577publication date2013-03-15
P1433published inGenes & DevelopmentQ1524533
P1476titlePQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth
P478volume27

Reverse relations

cites work (P2860)
Q42152388Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.
Q36865220Cross-Tissue Regulatory Gene Networks in Coronary Artery Disease
Q35988870Dephosphorylation of DBC1 by Protein Phosphatase 4 Is Important for p53-Mediated Cellular Functions
Q37058638Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia.
Q28652302FOXP2, retinoic acid, and language: a promising direction
Q28651479Globularity and language-readiness: generating new predictions by expanding the set of genes of interest
Q28508219Identification and characterization of a neuron-specific isoform of protrudin
Q35228912In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells
Q26774092In vivo modeling of neuronal function, axonal impairment and connectivity in neurodegenerative and neuropsychiatric disorders using induced pluripotent stem cells
Q28596914Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain
Q27690128Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD
Q90597210Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Q28648399Possible functional links among brain- and skull-related genes selected in modern humans
Q37680006SOX2 and p63 colocalize at genetic loci in squamous cell carcinomas
Q51707347Selection pressure on human STR loci and its relevance in repeat expansion disease.
Q91302585Tandem Affinity Purification and Mass Spectrometry (TAP-MS) for the Analysis of Protein Complexes
Q35857541Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Q30757620The PSI-U1 snRNP interaction regulates male mating behavior in Drosophila
Q89636096The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor
Q57039715The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology
Q91583861The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc
Q28247678The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling
Q38700619Ultra-Early Phase pathologies of Alzheimer's disease and other neurodegenerative diseases
Q64079906Williams Syndrome, Human Self-Domestication, and Language Evolution
Q47070332X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs

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