KIAA1851 Antibody
- Known as:
- KIAA1851 Antibody
- Catalog number:
- XW-7961
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- KIAA1851 Antibody
Related genes to: KIAA1851 Antibody
- Gene:
- GMPPB NIH gene
- Name:
- GDP-mannose pyrophosphorylase B
- Previous symbol:
- -
- Synonyms:
- KIAA1851
- Chromosome:
- 3p21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2005-01-10
- Date modifiied:
- 2016-01-26
Related products to: KIAA1851 Antibody
Related articles to: KIAA1851 Antibody
- Patients presenting with limb-girdle weakness and elevated creatine kinase (CK) are usually assumed to have a primary muscular dystrophy. Occasionally, however, a treatable neuromuscular junction disorder may be hidden within this presentation. Mutations in (GDP-mannose pyrophosphorylase B) disrupt glycosylation pathways required both for α-dystroglycan stability and acetylcholine receptor assembly, creating such an unusual overlap between dystroglycanopathy and congenital myasthenic syndrome. We describe two siblings who carry the same homozygous pathogenic variant but presented with markedly different clinical and therapeutic profiles. The brother developed fatigable proximal weakness that showed a striking and sustained improvement with pyridostigmine. His sister, however, presented with prominent myopathic features and markedly elevated CK, minimal response to cholinergic therapy but improvement with β-adrenergic agents. Both siblings showed a significant decrement in repetitive nerve stimulation. These contrasting phenotypes illustrate the remarkable clinical diversity resulting from the same mutation and emphasise an important diagnostic lesson: patients presenting with limb-girdle weakness and hyperCKaemia may still harbour a treatable defect of neuromuscular transmission. - Source: PubMed
Publication date: 2026/06/05
Khadilkar Satish VKhade Shamisha ShashankMahajan Bhanushali Jharna P - Mutations in GDP-mannose pyrophosphorylase B (GMPPB) cause dystroglycanopathy, a rare neuromuscular disorder characterized by α-dystroglycan hypoglycosylation, yet the pathogenic mechanisms and therapeutic options remain poorly defined. To dissect the molecular basis of dystroglycanopathy, we generate Gmppb knockout and knock-in (P32L and R287Q) mice. We show that homozygous Gmppb knockout and P32L mutant mice (both male and female) display embryonic lethality, while heterozygous Gmppb-P32L (Gmppb) mice (both male and female) develop progressive muscular dystrophy accompanied by Purkinje cell loss, peripheral demyelination, and impaired nerve conduction. Integrated biochemical, transcriptomic, metabolomic and glycoproteomic analyses reveal widespread protein hypoglycosylation, metabolic dysregulation and suppressed Wnt/β-catenin signaling, resulting in defective differentiation and regeneration of muscle stem cells. Pharmacological activation of Wnt signaling with CHIR-99021 restores myogenic capacity and improves regeneration after injury. Furthermore, AAV-mediated GMPPB gene replacement reinstates α-dystroglycan glycosylation, normalizes GDP-mannose levels, and rescues motor and electrophysiological defects. Collectively, our findings establish Gmppb mice as a faithful model of GMPPB-associated dystroglycanopathy and demonstrate that Wnt pathway activation and AAV-based gene therapy represent promising strategies for treating glycosylation-defective muscular dystrophies. - Source: PubMed
Publication date: 2026/04/09
Fu ZiweiWang TongchaoZhang ChenyangQi TianyuChen YanyanYang JuYang HuaYan BingGong BaomingLu WeiqiaoLuo SushanLiu YingSun LeiJiang HaoChen BoZhang ZhaoLiu XiupingWang Yuxiang - Frailty, a clinical state of increased vulnerability to stressors with aging, imposes significant strain on healthcare systems. Its genetic underpinnings remain incompletely explored, highlighting the need to identify novel therapeutic targets for aging. - Source: PubMed
Publication date: 2026/04/01
Zhong JiaYuYuan MingHaoZhou EnHu Shuo - Congenital myopathies (CMYOs) and congenital muscular dystrophies (CMDs) are rare, clinically and genetically heterogeneous neuromuscular conditions characterized by muscle weakness, usually with onset at birth or in the first few months of life. Next-generation sequencing (NGS) has significantly enhanced diagnostic capabilities and transformed the diagnostic process for such rare conditions. The aim of this study was to describe the outcomes of NGS analysis and genotypic prevalence among patients with CMYO and CMD referred for diagnostic assessment to the National Highly Specialized Service (HSS) at the Dubowitz Neuromuscular Centre in London, United Kingdom, over a period of 10 years. - Source: PubMed
Publication date: 2026/03/12
Cicala GianpaoloMccauley JoPhadke RahulMueller JulianeRobb Stephanie AnnManzur Adnan YMunot PinkiBaranello GiovanniScoto MariacristinaTedesco Francesco SaverioMein Rachael AWalsh CherylMuntoni FrancescoSarkozy Anna - Muscle-Eye-Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy. This systematic review aims to explore all current literature data regarding clinical and electroencephalographic features of MEB cases with epilepsy. - Source: PubMed
Publication date: 2026/03/07
Kalampokini StefaniaPityrigkas EvripidisLiouta EleniPepe GeorgiaPoulidou VasilikiSpilioti MarthaKimiskidis Vasilios K