Ask about this productRelated genes to: WBP4 Blocking Peptide
- Gene:
- WBP4 NIH gene
- Name:
- WW domain binding protein 4
- Previous symbol:
- -
- Synonyms:
- FBP21, MGC117310
- Chromosome:
- 13q14.11
- Locus Type:
- gene with protein product
- Date approved:
- 1999-09-16
- Date modifiied:
- 2016-10-05
Related products to: WBP4 Blocking Peptide
Related articles to: WBP4 Blocking Peptide
- piRNAs (PIWI-interacting RNAs) can significantly modify the expression of protein-coding genes by suppressing the translation process. The aim of this work was to computationally evaluate the potential interactions between piRNAs and the mRNA of the gene, as well as other genes involved in key metabolic pathways related to health and lifespan regulation. - Source: PubMed
Publication date: 2026/02/18
Pyrkova AnnaAkhmetova KyrmyzyZhanuzakov MuratTauassarova MakpalRakhmetulina AizhanNiyazova RaigulOrazova SaltanatZielenkiewicz PiotrIvashchenko Anatoliy - Disruptions in spatiotemporal gene expression can result in atypical brain function. Specifically, autism spectrum disorder (ASD) is characterized by abnormalities in pre-mRNA splicing. Abnormal splicing patterns have been identified in the brains of individuals with ASD, and mutations in splicing factors have been found to contribute to neurodevelopmental delays associated with ASD. Here we review studies that shed light on the importance of splicing observed in ASD and that explored the intricate relationship between splicing factors and ASD, revealing how disruptions in pre-mRNA splicing may underlie ASD pathogenesis. We provide an overview of the research regarding all splicing factors associated with ASD and place a special emphasis on five specific splicing factors-HNRNPH2, NOVA2, WBP4, SRRM2, and RBFOX1-known to impact the splicing of ASD-related genes. In the discussion of the molecular mechanisms influenced by these splicing factors, we lay the groundwork for a deeper understanding of ASD's complex etiology. Finally, we discuss the potential benefit of unraveling the connection between splicing and ASD for the development of more precise diagnostic tools and targeted therapeutic interventions. This article is categorized under: RNA in Disease and Development > RNA in Disease RNA Evolution and Genomics > RNA and Ribonucleoprotein Evolution RNA Evolution and Genomics > Computational Analyses of RNA RNA-Based Catalysis > RNA Catalysis in Splicing and Translation. - Source: PubMed
Engal EdenZhang ZhenweiGeminder OphirJaffe-Herman ShiriKay GillianBen-Hur AsaSalton Maayan - Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal complex and has not been previously associated with human pathologies in the Online Mendelian Inheritance in Man (OMIM) database. Through GeneMatcher, we identified ten individuals from eight families with a severe neurodevelopmental syndrome featuring variable manifestations. Clinical manifestations included hypotonia, global developmental delay, severe intellectual disability, brain abnormalities, musculoskeletal, and gastrointestinal abnormalities. Genetic analysis revealed five different homozygous loss-of-function variants in WBP4. Immunoblotting on fibroblasts from two affected individuals with different genetic variants demonstrated a complete loss of protein, and RNA sequencing analysis uncovered shared abnormal splicing patterns, including in genes associated with abnormalities of the nervous system, potentially underlying the phenotypes of the probands. We conclude that bi-allelic variants in WBP4 cause a developmental disorder with variable presentations, adding to the growing list of human spliceosomopathies. - Source: PubMed
Publication date: 2023/11/13
Engal EdenOja Kaisa TeeleMaroofian RezaGeminder OphirLe Thuy-LinhMarzin PaulineGuimier AnneMor EvyatarZvi NaamaElefant NaamaZaki Maha SGleeson Joseph GMuru KaiPajusalu SanderWojcik Monica HPachat DivyaElmaksoud Marwa AbdChan Jeong WonLee HaneBauer PeterZifarelli GiovanniHoulden HenryDaana MuhannadElpeleg OrlyAmiel JeanneLyonnet StanislasGordon Christopher THarel TamarÕunap KatrinSalton MaayanMor-Shaked Hagar - Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies. Ascertained through GeneMatcher we identified eleven patients from eight families, with a severe neurodevelopmental syndrome with variable manifestations. Clinical manifestations included hypotonia, global developmental delay, severe intellectual disability, brain abnormalities, musculoskeletal and gastrointestinal abnormalities. Genetic analysis revealed overall five different homozygous loss-of-function variants in . Immunoblotting on fibroblasts from two affected individuals with different genetic variants demonstrated complete loss of protein, and RNA sequencing analysis uncovered shared abnormal splicing patterns, including enrichment for abnormalities of the nervous system and musculoskeletal system genes, suggesting that the overlapping differentially spliced genes are related to the common phenotypes of the probands. We conclude that biallelic variants in cause a spliceosomopathy. Further functional studies are called for better understanding of the mechanism of pathogenicity. - Source: PubMed
Publication date: 2023/06/27
Engal EdenOja Kaisa TeeleMaroofian RezaGeminder OphirLe Thuy-LinhMor EvyatarTzvi NaamaElefant NaamaZaki Maha SGleeson Joseph GMuru KaiPajusalu SanderWojcik Monica HPachat DivyaElmaksoud Marwa AbdJeong Won ChanLee HaneBauer PeterZifarelli GiovanniHoulden HenryElpeleg OrlyGordon ChrisHarel TamarÕunap KatrinSalton MaayanMor-Shaked Hagar - Since bacteria in biofilms are inherently resistant to antibiotics and biofilm-associated infections pose a serious threat to global public health, new therapeutic agents and schemes are urgently needed to meet clinical requirements. Here two quaternary ammonium-functionalized biphen[n]arenes (WBPn, n=4, 5) were designed and synthesized with excellent anti-biofilm potency. Not only could they inhibit the assembly of biofilms, but also eradicate intractable mature biofilms formed by Gram-positive S. aureus and Gram-negative E. coli bacterial strains. Moreover, they could strongly complex a conventional antibiotic, cefazolin sodium (CFZ) with complex stability constants of (7.41±0.29)×10 M for CFZ/WBP4 and (4.98±0.49)×10 M for CFZ/WBP5. Combination of CFZ by WBP4 and WBP5 synergistically enhanced biofilm eradication performance in vitro and statistically improved healing efficacy on E. coli-infected mice models, providing a novel supramolecular strategy for combating biofilm-associated infections. - Source: PubMed
Publication date: 2023/04/14
Du XinbeiMa MengkeZhang YahanYu XiangChen LongmingZhang HanMeng ZhaoJia XueshunChen JunyiMeng QingbinLi Chunju