BIN1
- Known as:
- BIN1
- Catalog number:
- Y214053
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- BIN1
Related genes to: BIN1
- Gene:
- BIN1 NIH gene
- Name:
- bridging integrator 1
- Previous symbol:
- AMPHL
- Synonyms:
- SH3P9, AMPH2
- Chromosome:
- 2q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-05-19
- Date modifiied:
- 2019-04-23
Related products to: BIN1
Related articles to: BIN1
- Multiple system atrophy is a fatal, sporadic α-synucleinopathy characterized by glial cytoplasmic inclusions in oligodendrocytes. No causative gene for multiple system atrophy has been identified to date. Whole-genome sequencing was performed for a patient with familial multiple system atrophy, in whom an AGG repeat expansion in BIN1 was identified. Based on this finding, we screened for the AGG repeat expansion in BIN1 in a cohort comprising 224 patients with clinically diagnosed multiple system atrophy, 67 patients with pathologically confirmed multiple system atrophy, and control groups including 574 blood samples and 65 brain samples from neurologically healthy individuals. The pathological analysis was performed for four cases with the repeat expansion and five cases without the repeat expansion. The biochemical analysis was performed for nine control subjects, ten cases without the repeat expansion, and eight cases with the repeat expansion. Long-read sequencing identified an AGG repeat expansion in the first intron of BIN1 in the proband. Patients with multiple system atrophy carried a higher frequency of repeat expansions exceeding 80 repeats in the pathological multiple system atrophy group compared to the brain control group (frequency: 13.4% vs. 0%; odds ratio: infinity; 95% confidence interval [CI], 2.1 to infinity; P = 0.003, Fisher's exact test). In contrast, the difference of frequency did not reach statistical significance in the clinical multiple system atrophy group compared to the blood control group (frequency: 4.5% vs 2.4%; odds ratio: 1.87; 95% CI, 0.8 to 4.5; P = 0.16, Fisher's exact test). Neuropathological analysis revealed BIN1-positive glial cytoplasmic inclusions more frequently in the brains of patients with repeat expansions. In immunoblot analysis, insoluble BIN1 were increased in the brains of multiple system atrophy irrespective of repeat status. Our findings indicate that the AGG repeat expansion in BIN1 and BIN1 protein aggregation plays an important role in the pathogenesis of multiple system atrophy. - Source: PubMed
Publication date: 2026/08/28
Kume KodaiKurashige TakashiItabashi TakeshiAkagi AkioAndo TakashiNakamura MasatakaKikumoto MaiTamada AtsushiKamada MasakiAyaki TakashiIzumi YuishinYabe IchiroMuguruma KeikoMiyamoto TatsuoIwasaki YasuhiKawakami Hideshi - Genetic mutations, altered RNA regulation, and protein aggregation are the main hallmarks of Parkinson's disease (PD), a neurodegenerative disorder. Investigation into the molecular basis of the disease revealed that post-transcriptional regulation, specifically RNA processing, contributes to neuronal vulnerability in PD. Alterations in alternative splicing affecting genes involved in neuronal function and cellular homeostasis have been reported in PD, including , , , , and . These alterations impact central neuronal pathways, including cytoskeletal maintenance, mitochondrial function, synaptic activity, oxidative stress, and intracellular trafficking. This review aims to provide an overview of alternative splicing in key PD gene transcripts, with a focus on their roles in pathogenesis and disease progression. Emerging data suggest that dysregulation of RNA binding proteins (RBPs) may influence RNA processing in PD. We will examine current evidence on the RNA regulatory networks in PD, highlighting the role of transcript isoforms and RBPs in neuronal dysfunction. Finally, we will discuss emerging experimental models such as 3D-brain organoids that offer new opportunities to investigate splicing regulation. - Source: PubMed
Publication date: 2026/07/31
Bruno Maria GiusyMenichetti GiacomoValentino AngelaJavaid AqsaBelpinati FrancescaRuggiero AlessandraValenti Maria TeresaPaolone GiovannaCavaliere FabioTrabetti ElisabettaRomanelli Maria GraziaBombieri Cristina - Cognitive impairment and Alzheimer's disease are significant health problems worldwide, and there is an emerging evidence that they may partly originate from neurodevelopmental processes established during early life, specifically in adolescence. - Source: PubMed
Publication date: 2026/08/26
Pasricha SumitKaur Sukhvir - Mutations in CAV3, encoding caveolin-3, cause caveolinopathies, rare genetic disorders affecting both skeletal and cardiac muscle. Caveolin-3 contributes to T-tubule formation and excitation-contraction coupling. To date, there are no therapy for caveolinopathies. BIN1 (amphiphysin 2), a membrane-shaping protein critical for T-tubule integrity, has shown therapeutic promise in congenital myopathies and heart dysfunction. We evaluated the therapeutic impact of BIN1 overexpression in Cav-3 knockout mice, a model recapitulating key features of human caveolinopathy. We assessed skeletal and cardiac function, T-tubule morphology, mitochondria, and gene expression using histological, physiological, and molecular approaches. Results: We found Cav-3-/- mice displayed skeletal muscle weakness, T-tubule disorganization, and mitochondrial abnormalities, alongside cardiac diastolic dysfunction and myofibrillar disarray. While BIN1 overexpression failed to improve muscle strength, T-tubule structure, or fiber atrophy, it corrected nuclear positioning and partially restored mitochondrial markers in skeletal muscle. In contrast, BIN1 robustly rescued cardiac performance, restoring end-diastolic volume, cardiac output, and sarcomeric integrity. Expression profiling revealed greater dysregulation of excitation-contraction coupling and atrogene pathways in skeletal than in cardiac muscle in Cav-3-/- mice. Cavin-4, a BIN1-interacting protein and caveolar component, was selectively dysregulated in Cav-3-/- muscle, suggesting a mechanistic barrier to BIN1-mediated rescue in this tissue. These findings identify tissue-specific differences in the molecular consequences of caveolin-3 loss and demonstrate that BIN1 overexpression effectively rescues cardiac manifestations of caveolinopathy while only partially ameliorating the associated subcellular defects in skeletal muscle. Our results support BIN1 investigation as a potential target for inherited cardiomyopathies, while highlighting the need for alternative strategies in skeletal muscle. - Source: PubMed
Moncheaux AliceGuimond AlainSpiegelhalter CoralieMessaddeq NadiaNahy ChadiaLaporte Jocelyn - Inherited ventricular arrhythmias (VAs) frequently occur in the absence of pathogenic variants in canonical ion channel genes, suggesting alternative mechanisms of electrical instability. DENND3 is a guanine nucleotide exchange factor that regulates Rab GTPase-mediated trafficking, but its role in cardiac excitation-contraction coupling and membrane microdomain organization remains undefined. - Source: PubMed
Publication date: 2026/08/25
Gao ShanKim C S JohnYe DanTester David JGiudicessi John RAckerman Michael J