Ask about this productRelated genes to: MAPKBP1 antibody
- Gene:
- MAPKBP1 NIH gene
- Name:
- mitogen-activated protein kinase binding protein 1
- Previous symbol:
- -
- Synonyms:
- KIAA0596, NPHP20
- Chromosome:
- 15q15.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-07-21
- Date modifiied:
- 2019-04-16
Related products to: MAPKBP1 antibody
Related articles to: MAPKBP1 antibody
- Nephronophthisis (NPH) is a renal ciliopathy characterized by chronic tubulointerstitial fibrosis. Despite discovery of multiple disease genes, mechanisms of NPH-associated kidney degeneration remain poorly understood. In this study, we present details of clinical and molecular mechanisms of () loss-of-function. - Source: PubMed
Publication date: 2025/06/04
Findeisen ChristinPapazian MariaPöschla LindaErtel AnastasiaJin WenjunPanitz NydiaHantmann ElenaCoucke PaulAbdulwahab FirdousAlAbdi LamaAlkuraya Fawzan SSalem MayAlzaidan HamadEckardt Kai-UweChristensen Søren TBenmerah AlexandreSaunier SophieHalbritter JanSchönauer Ria - X-ray irradiation induces widespread changes in gene expression. Positioned at the bottom of the central dogma, translational regulation responds swiftly to environmental stimuli, fine-tuning protein levels. However, the global view of mRNA translation following X-ray exposure remains unclear. In this study, we systematically investigated X-ray-induced translational alternation using ribosome profiling. Our study revealed a temporary translation inhibition in HEK293T cells following X-ray treatment. A subset of mRNAs experienced translational upregulation by bypassing upstream open reading frames (uORFs). The upregulated genes were enriched in the MAPK signaling pathway, such as MAPKBP1. Suppression of MAPKBP1 inhibited X-ray-induced cell apoptosis. Furthermore, we identified the induction of novel peptides encoded by small open reading frames (smORFs) within long non-coding RNAs (lncRNAs) upon X-ray treatment. Overall, our findings provide a comprehensive overview of the translational landscape within eukaryotic cells following X-ray treatment, offering new insights into DNA damage response. - Source: PubMed
Publication date: 2025/01/02
Hou JingyuYu LeiWu CanlanWei SaisaiGao Xiangwei - Renal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human retina ( https://www.proteinatlas.org/humanproteome/tissue ) and for an ocular phenotype in mouse models ( http://www.informatics.jax.org/ ). Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor disorders, and coloboma. Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models. Ocular abnormalities are not associated with the most common adult-onset "cystic" kidney diseases, namely, autosomal dominant (AD) polycystic kidney disease and the AD tubulointerstitial kidney diseases (ADTKD). However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Hereditary Angiopathy Nephropathy, Aneurysms and muscle Cramps (HANAC) (tortuous retinal vessels), tuberous sclerosis (retinal hamartomas), von Hippel-Lindau syndrome (retinal hemangiomas), and Alport syndrome (lenticonus, fleck retinopathy). Ocular abnormalities are associated with many pediatric-onset renal ciliopathies but are uncommon in adult-onset cystic kidney disease. However the demonstration of ocular manifestations may be helpful diagnostically and the features may require monitoring or treatment. - Source: PubMed
Publication date: 2023/08/30
Salehi OmarMack HeatherColville DebLewis DebbieSavige Judy - Nephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. Nephronophthisis-related ciliopathies (NPHP-RCs) are a common cause of end-stage kidney disease (ESKD) in children and adolescents. NPHP-RCs are often accompanied by extrarenal manifestations, including intellectual disability, retinitis pigmentosa, or polydactyly. Although more than 100 causative genes have been identified, its diagnosis is difficult because the clinical features of each mutation often overlap. From September 2010 to August 2021, we performed genetic analysis, including next-generation sequencing (NGS), in 574 probands with kidney dysfunction and retrospectively studied cases genetically diagnosed with NPHP-RCs. RESULTS: We detected mutations related to NPHP-RCs in 93 patients from 83 families. Members of 60 families were diagnosed using NGS, and the mutations and the corresponding number of families are as follows: NPHP1 (24), NPHP3 (10), OFD1 (7), WDR35 (5), SDCCAG8 (4), BBS10 (3), TMEM67 (3), WDR19 (3), BBS1 (2), BBS2 (2), IFT122 (2), IFT140 (2), IQCB1 (2), MKKS (2), SCLT1 (2), TTC21B (2), ALMS1 (1), ANKS6 (1), BBS4 (1), BBS12 (1), CC2D2A (1), DYNC2H1 (1), IFT172 (1), and MAPKBP1 (1). A total of 39 cases (41.9%) progressed to ESKD at the time of genetic analysis, whereas 58 cases (62.3%) showed extrarenal manifestations, the most common being developmental delay, intellectual disability, and autism spectrum disorder in 44 patients. Comprehensive genetic analysis using NGS is useful for diagnosing patients with NPHP-RCs. - Source: PubMed
Publication date: 2022/02/09
Sakakibara NanaNozu KandaiYamamura TomohikoHorinouchi TomokoNagano ChinaYe Ming JuanIshiko ShinyaAoto YuyaRossanti RiniHamada RikuOkamoto NobuhikoShima YukoNakanishi KoichiMatsuo MasafumiIijima KazumotoMorisada Naoya - - Source: PubMed
Publication date: 2020/06/24
Al-Hamed Mohamed HAlzaidan HamadHussein MagedAlbaik LinaQari AlyaSayer John AImtiaz Faiqa