Ask about this productRelated genes to: SPTAN1 Blocking Peptide
- Gene:
- SPTAN1 NIH gene
- Name:
- spectrin alpha, non-erythrocytic 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 9q34.11
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2016-01-12
Related products to: SPTAN1 Blocking Peptide
Related articles to: SPTAN1 Blocking Peptide
- Tumor location influences survival in bladder cancer, potentially due to genetic heterogeneity driven by distinct embryological origins and structural compositions. We investigate location-specific somatic gene alterations (GAs) and their potential clinical implications in muscle-invasive bladder cancer (MIBC). - Source: PubMed
Publication date: 2026/03/09
Venkatesh ArjunRodriguez Rosales Reynier DKanumuambidi Jean-PierreIshiyama YudaiAl-Toubat MohammedSceats HunterMetzner Thomas DSparks ShelbyMurray NicoleBandyk MarkBalaji K C - Prenatal stress (PNS) and maternal immune activation (MIA) are known risk factors for psychiatric disorders. However, the effects of combining these two factors remain unclear. We investigated the behavioral consequences of dual exposure to PNS and MIA in mice and evaluated whether clozapine treatment during the adolescent period could reverse these changes. - Source: PubMed
Publication date: 2026/02/26
Kim Hak-JaeKang ShinwooKwon Jun-TackKim JinJung Young HyunCha MyeounghoonLee Jeong Beom - Epilepsy syndromes show marked clinical and genetic heterogeneity, with numerous functionally diverse genes involved in their etiology. Next-generation sequencing (NGS) has facilitated the identification of many monogenic epilepsy syndromes and enables earlier, more accurate diagnosis in pediatric patients. This study analyzes the molecular profiles of 87 pediatric patients with various forms of epilepsy in whom pathogenic or likely pathogenic variants were identified. Next-generation sequencing (NGS) using multi-gene epilepsy panels or whole-exome sequencing (WES) was performed. A total of 88 pathogenic or likely pathogenic variants were detected in 48 epilepsy-related genes; 30 variants occurred de novo. and were the most frequent contributors (12.6% and 9.2%, respectively). The highest percentage of positive diagnoses (48%) was observed in patients with developmental and epileptic encephalopathy (DEE), with variants identified in genes including , , , , , , , , , , , , , , , , and . Pathogenic variants in were found in four patients with KBG syndrome, while other genes appeared sporadically. Targeted massively parallel sequencing is an effective diagnostic tool for pediatric epilepsy. The presence of numerous single-case findings highlights the high genetic heterogeneity of epilepsy. This approach enabled more precise diagnoses that would not have been achieved through clinical evaluation alone, underscoring the importance of genetic testing for prognosis and treatment planning in pediatric patients with unexplained epilepsy. - Source: PubMed
Publication date: 2026/01/27
Chałupczyńska BeataCiara ElżbietaHalat-Wolska PaulinaPollak AgnieszkaStawiński PiotrJurkiewicz DorotaPiekutowska-Abramczuk DorotaGawlik MarzenaPietrasik JustynaCieślikowska AgataWicher DorotaUlatowska AgataJedlińska DominikaBorkowska JulitaChmielewski DariuszDunin-Wąsowicz DorotaKotulska-Jóźwiak KatarzynaChrzanowska KrystynaMadej-Pilarczyk Agnieszka - Autosomal recessive polycystic kidney disease (ARPKD) leads to severe renal cysts and progressive kidney dysfunction, with no approved treatments. The absence of such cystic phenotypes in Pkhd1/ mice underscores the need for novel models that better recapitulate the human disease. We developed kidney organoid-on-chip models that mimic patients' distal-nephron cysts, identifying RAC1/c-FOS as potential therapeutic targets. However, critical questions remain regarding RAC1 activation during cyst formation, cyst origins, and underlying molecular mechanisms. Using a multifaceted approach, organoid-on-chip models, transgenic mice, and patient kidney samples, we identified reduced levels of SPTAN1, a cytoskeletal spectrin protein, as a key regulator of RAC1 activation and cystic pathology. SPTAN1-mutant kidney organoids and mice exhibited distal-nephron cysts, and elevated RAC1/c-FOS expression, consistent with ARPKD patients. Transcriptomics and live imaging revealed altered calcium signaling and increased intracellular calcium. Single-cell RNA-seq identified SLC8A1, a sodium/calcium exchanger, as a marker distinguishing distal/connecting tubules from collecting ducts in human kidneys, predominantly expressed in cystic epithelia in organoids and human ARPKD kidneys. Restoring SPTAN1 in PKHD1/ organoids via CRISPR activation alleviated cystic phenotypes, normalized intracellular calcium, and reduced RAC1/c-FOS expression. These findings position SPTAN1 as a central player in ARPKD pathogenesis and highlight epigenome editing as a potential therapeutic strategy. - Source: PubMed
Publication date: 2026/02/26
Kuraoka ShoheiHigashi YuheiSaito SuguruPourgonabadi SolmazHonjoh HonamiIshigaki ShoHarris Peter CSatlin Lisa MYamashita MichifumiMorizane Ryuji - Cell shape and fate are tightly linked, yet how the cortical cytoskeleton integrates regulation of shape and fate remains unclear. Using the multilayered epidermis as a paradigm for cell shape-guided changes in differentiation, we identify spectrin as an essential organizer of the actomyosin cortex to integrate transitions in cell shape with spatial organization of signaling. Loss of αII-spectrin (Sptan1) in mouse epidermis altered cell shape in all layers and impaired differentiation and barrier formation. High-resolution imaging and laser ablation revealed that E-cadherin organizes gradients of cortical actin and spectrin into layer-specific submembranous networks with discrete structural and mechanical properties that coordinate cell shape and fate. This layer-specific organization dissipates tension and, in upper layers, retains activated growth factor receptor EGFR and the calcium channel TRPV3 at the membrane to induce terminal differentiation. Together, these findings reveal how polarized organization of the cortical cytoskeleton directs transitions in cell shape and cell fate at the tissue scale necessary to establish epithelial barriers. - Source: PubMed
Publication date: 2026/02/12
Soffer AradBhosale AishwaryaGhodrat RoohallahPeskoller MarcMatsui TakeshiNiessen Carien MLuxenburg ChenRübsam Matthias