COLQ antibody - N-terminal region (ARP34362_P050)
- Known as:
- COLQ (anti-) - N-terminal region (ARP34362_P050)
- Catalog number:
- arp34362_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- COLQ antibody - N-terminal region (ARP34362_P050)
Related genes to: COLQ antibody - N-terminal region (ARP34362_P050)
- Gene:
- COLQ NIH gene
- Name:
- collagen like tail subunit of asymmetric acetylcholinesterase
- Previous symbol:
- -
- Synonyms:
- EAD
- Chromosome:
- 3p25.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-14
- Date modifiied:
- 2016-10-05
Related products to: COLQ antibody - N-terminal region (ARP34362_P050)
Related articles to: COLQ antibody - N-terminal region (ARP34362_P050)
- Congenital myasthenic syndromes (CMS) are a group of rare disorders characterized by fatigable muscle weakness and caused by impaired neuromuscular junction (NMJ) function. CMS symptoms are highly variable, but it can be detrimental and lead to death. There are over 40 different genetic subtypes, including CMS and CMS. encodes for neuralagrin, which is released from the nerve terminal and triggers muscle-specific kinase phosphorylation (pMuSK). pMuSK is essential for NMJ development and maintenance, thus agrin deficiency causes NMJ impairment. encodes for collagenous subunit Q (ColQ), which anchors acetylcholinesterase and stabilizes MuSK. As a result, COLQ deficiency results in NMJ degeneration from prolonged transmission signals and decreased pMuSK. Current treatments for CMS and CMS are limited, highlighting the importance of finding more efficient therapies. Recently, a MuSK agonist antibody (ARGX-119) with high affinity for the Frizzled-like domain showed remarkable rescue of a -CMS mouse model. We hypothesized a derivative antibody of ARGX-119 (3B2) could benefit and CMS mouse models. CMS mice were treated at postnatal day 5 (P5), P15 and P35, and CMS mice were treated weekly from P22 to P57. In CMS mice, 3B2 treatment rescued survival, bodyweight, fibre type switching and pMuSK levels, and improved forelimb grip strength and NMJ morphology. In CMS mice, 3B2 treatment was unable to rescue deficits observed. Our findings suggest that MuSK agonists may benefit patients with -CMS, which should be tested in clinical trials. Our study emphasizes that effective CMS treatment is gene-dependent and relies on an accurate genetic diagnosis. - Source: PubMed
Publication date: 2026/05/14
Ho KellyAdjei-Afriyie OfosuCarmona-Martinez RicardoRay RohanO'Neil DanielZeldin JoshuaOury JulienDe Clercq LieselotBurden Steven JVankerckhoven BernhardtVanhauwaert RoelandSpendiff SallyLochmüller Hanns - The aims of this study were to determine whether the six-minute walk test predicts muscular fatigability in ambulant children with congenital myasthenic syndrome and to examine the relationship between the six-minute walk test and mobility tests. - Source: PubMed
Publication date: 2026/05/01
Bulut NumanYağcıoğlu Güllü AydınDemir AykutAlemdaroğlu-Gürbüz İpekHaliloğlu GöknurTunca Öznur - Genetic studies of stool frequency (SF), an indirect proxy for gastrointestinal transit, may reveal therapeutically tractable pathways relevant to IBS and other dysmotility disorders. - Source: PubMed
Publication date: 2026/01/20
Díaz-Muñoz CristianBozzarelli IsottaLopera-Maya Esteban AlexanderBelbasis LazarosLo Faro ValeriaCamargo Tavares LeticiaHeredia-Fernández FranciscoDi Lorenzo BiagioSinha TrishlaEsteban Blanco CristinaFavé Marie-JulieAwadalla PhilipWalters Robin GBonfiglio FerdinandoZhernakova AlexandraSanna SerenaD'Amato Mauro - Congenital myasthenic syndrome (CMS) refers to a rare heterogeneous group of hereditary disorders characterized by fatigue and muscle weakness due to impairment in neuromuscular transmission. A total of 40 genes have been identified in the pathogenesis of CMSs. The study assessed 22 patients (14 females and 8 males) with CMS of childhood onset with their phenotypes and genotypes. Genetic analysis revealed variations in the following eight genes: CHRNE, DOK7, GFPT1, COLQ, SLC25A1, CHAT, MUSK, and MYO9A. Eight novel variations were detected involving SLC25A1, MUSK, DOK7, GFPT1, and CHRNE. The median age was 14 years (range: 0.5-67 years). The median age of onset of symptoms was 8 months (range: 0-16 years). The longest time after the onset of symptoms was 62 years. The most common initial symptoms were weakness of extremities (n = 9) and ptosis (n = 8). Respiratory symptoms were present in 11 patients (50%), which showed progression, multiphasic disease course, and amelioration in 45.4%, 18.1%, and 36.3% of patients, respectively. Motor symptoms showed a progressive worsening in 68.1%, stationary course in 13.6%, multiphasic disease course in 13.6%, and amelioration in 4.5% of patients. Thanks to next-generation sequencing, diagnoses of CMS have been increasing over the recent years; so has the number of novel variants. - Source: PubMed
Publication date: 2025/12/26
Akçay Ayfer ArduçYunisova GulshanAvcı ŞahinAcarlı Ayşe Nur ÖzdağKayserili HülyaOflazer Piraye - Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission with few effective treatments. Salbutamol, a β2-adrenergic agonist, has shown anecdotal benefit, yet no comprehensive assessment of its clinical effectiveness across genetic subtypes exists. This systematic review aimed to evaluate outcomes associated with Salbutamol therapy in genetically confirmed CMS. - Source: PubMed
Publication date: 2025/12/11
Takhman MuhammadShihab ReemHattab MoathAbdallah Hala OBdair MohammadGonorazky Hernan DAlawneh Issa