CHAT Antibody

1. the AA genotype of CHAT was associated with a 1.25 times higher risk of Alzheimer's disease (AD) thus demonstrating that the rs3810950 polymorphism can have a modest but statistically significant effect on the risk of AD in the Czech population PMID: 29759072
2. Compared with the control group, the densitometric quantification and mean density of GPR43 and ChAT proteins, and expression of GPR43 and CHAT genes, were significantly decreased in the patients with mixed refractory constipation. PMID: 26921846
3. meta-analysis suggested that rs1880670G/A, and rs2177369 G/A polymorphisms were not risk factors for Alzheimer's Disease. However, rs3810950G/A, or rs868750G/A genetic polymorphism was a genetic risk factor for the development of Alzheimer's Disease. PMID: 27390868
4. Results suggest that SATB1 is activated to bind to chromatin at S/MARs after exposure to Abeta 1-42, resulting in alternative utilization and movement of 82-kDa ChAT to these regions demonstrating that both proteins play critical roles in the response of neural cells to acute Abeta-exposure. PMID: 27052102
5. We conducted a meta-analysis of studies involving CHAT, TFAM, and VR22 polymorphisms and Alzheimer disease susceptibility.For CHAT, rs2177369 (G>A) in whites and rs3810950 (G>A) in Asians were found to be associated with AD susceptibility. No association was detected between rs1880676 and rs868750 and AD risk. PMID: 27272392
6. In conclusion, our meta-analysis indicated CHAT rs2177369 polymorphism might play a protective role in AD, while rs3810950 variant was a risk factor for AD but its single heterozygous mutations might not influence susceptibility to AD. PMID: 27597977
7. Two novel CHAT gene mutations, p.Val306Leu and p.Ser704del were detected in an ethnic Kadazandusan family with congenital myasthenic syndrome. PMID: 26789281
8. sequence variants of CHAT were associated with human cognitive ability in not only patients with psychiatric disorders but also normal healthy individuals PMID: 26854842
9. There is a striking variability in the severity of phenotypes resulting from mutations in CHAT, which is the only gene so far known to be linked with congenital deficiency of ACh synthesis. PMID: 26080897
10. Data show thata the expression of choline acetyltransferase (ChAT) is reduced in the postmortem alcoholic basal forebrain in comparison to moderate drinking controls. PMID: 25405505
11. This study confirmed that genetic polymorphism of CHAT has an influence on drug response in Alzheimer's disease. PMID: 25730470
12. These studies indicate a novel relationship between cholinergic neurons and APP processing, with 82-kDa ChAT acting as a negative regulator of Abeta production PMID: 24844149
13. The results demonstrate that human NSCs over-expressing ChAT improve cognitive function and physical activity of aging mice. PMID: 23731954
14. rs1880676 is functional and the allelic variations of this polymorphism are involved in developing nicotine dependence by altering ChAT expression. PMID: 24076142
15. There was a loss of choline O-acetyltransferase in the visual cortex of dementia with Lewy bodies patients. PMID: 23242284
16. There were CHAT mRNA reactions in the synovial lining layer in patients with rheumatoid arthritis and osteoarthritis. PMID: 22483691
17. In airway epithelial cells anti-CHAT immunogold was found particularly within the apical cell membrane, cilia, submucosa, cytosol and nuclear membrane. PMID: 22683430
18. Data from transgenic mice expressing human CHAT in brain neurons suggest that CHAT is important in maintaining memory and learning throughout life. PMID: 22449376
19. [review] The peripheral type of ChAT appears to be a reliable marker for the visualization of peripheral cholinergic neurons and their processes, whereas other conventional markers including the common ChAT have not been used successfully for it. PMID: 21382474
20. The CHAT A/A genotype was associated with earlier onset of Alzheimer disease. PMID: 21602657
21. the functional consequences of 12 missense and one nonsense mutations of CHAT in 11 patients. ( choline acetyltransferase) PMID: 21786365
22. Multiple abnormalities with intellectual and developmental disability result from recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3. PMID: 21948486
23. The ChAT rs3810950 A allele was found to be associated with a decrease cognitive status evaluated by a five-component cognitive composite score PMID: 21883924
24. Multiple sclerosis hippocampus, activity and protein expression of choline acetyltransferase (ChAT), the acetylcholine synthesizing enzyme, was decreased, while the activity and protein expression of acetylcholinesterase PMID: 21691765
25. The data of this study did not seem to support a major role for CHAT genetic variation in geriatric depression and Alzheimer's disease , there might be a minor contribution in geriatric patients with depression. PMID: 21507424
26. overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene PMID: 21163949
27. residues M84, Y436, and Y552 play a critical role in binding and holding the choline substrate in the ChAT active site. PMID: 20560540
28. Although the effect sizes in both cohorts are modest, converging data across cohorts and phenotypes suggest that ChAT may be involved in nicotine dependence and ability to quit smoking. PMID: 20147892
29. Replication and association of CHAT with nicotine dependence in European and African American smokers are reported. PMID: 20383528
30. the acquisition of neurotransmitter phenotype is epigenetically, at least the hyper-acetylation on the core promoter region of ChAT gene, regulated in NG108-15 neuronal cells PMID: 20100532
31. Results suggest that c-Myb and C/EBPbeta act synergistically to increase choline acetyltransferase gene transcription in the nervous system. PMID: 12393272
32. A G-to-A polymorphism detected in the first coding exon of the ChAT sequence may result in attenuated translation efficiency of ChAT mRNA and confer an increased risk for deterioration of memory and cognition functions in Alzheimer's disease. PMID: 12401548
33. we identified a novel missense mutation (I336T) in the CHAT gene homozygously in all three patients. Haplotype analysis revealed that the mutant allele cosegregates with the clinical phenotype in both families. PMID: 12609506
34. the wide existence of ChAT in human endothelial cells PMID: 12628465
35. identification of a novel nuclear localization signal common to 69- and 82-kDa isoforms PMID: 12637523
36. Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium (late-onset Alzheimer disease). PMID: 12759818
37. previously identified polymorphism in choline acetyltransferase is not associated with Alzheimer's disease PMID: 12770689
38. Choline acetyltransferase neurons in the human parietal neocortex, strongly supports the existence of intrinsic cholinergic innervation of the human neocortex PMID: 14514417
39. ChAT is differentially phosphorylated by protein kinase C isoforms on four serines (Ser-440, Ser-346, Ser-347, and Ser-476) and one threonine (Thr-255) PMID: 15381704
40. These findings show that significant thalamic presynaptic cholinergic deficits occur only in cases of combined cortical and subcortical neurodegeneration in which dementia developed after prolonged parkinsonism. PMID: 15913843
41. one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors PMID: 16424819
42. No relationship between pattern of cholinergic deficits and distribution pattern of lesions in amygdala of patients with Alzheimer's disease or dementia with Lewy bodies. PMID: 16468020
43. There is considerable effect of the ChAT polymorphisms on Alzheimer's disease in Korean population and this effect is dependent on apolipoprotein E genotypes PMID: 16480703
44. Structure of human ChAT to a resolution of 2.2 A along with structures for binary complexes of ChAT with choline, coenzyme A and a nonhydrolyzable acetyl-CoA analogue. PMID: 17144655
45. This multiplex PCR technique can be carried out in a single tube and can differentiate between the three polymorphic sites of this gene associated with Alzheimer's disease. PMID: 17378730
46. ChAT, polymorphisms do not constitute a major genetic risk factor for susceptibility to Alzheimer's disease in a Sardinian population. PMID: 17503475
47. findings tentatively implicate a genetic influence of ChAt in the disorder's susceptibility. PMID: 17503482
48. From a panel of 59 single-nucleotide polymorphisms (SNPs) located on 11 candidate genes, we identify four SNPs (one each on CHRNA5 and CHRNA2 and two on CHAT) that appear to have pharmacogenetic relevance in smokin cessation therapy. PMID: 18165968
49. Alzheimer's disease nucleus basalis forebrain neurons, hyperinnervated by galanin, displays a significant upregulation in choline acetyltransferase. PMID: 18322398
50. These results indicate that basal forebrain cholinergic neuron abnormalities are present very early in aging and in the course of Alzheimer disease. PMID: 18379437

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HGNC: 1912

OMIM: 118490

KEGG: hsa:1103

STRING: 9606.ENSP00000337103

UniGene: Hs.302002