GJA1, gap junction protein alpha 1, 2697

N. diseases: 662; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 Biomarker disease BEFREE Subsequently, we generated an astroglial Cx43 knockout (KO) AD mouse model by crossbreeding Gfap (glial fibrillary acidic protein)-Cx43 KO mice with APP/PS1 mice. 30031059 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 Biomarker disease BEFREE Our results underscore the importance of GJA1 in AD pathogenesis and its potential for further investigation as a promising pharmacological target in AD. 30577786 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 Biomarker disease BEFREE The myriad roles of Cx43 and its implication in the development of disorders such as cancer, inflammation, osteoarthritis and Alzheimer's disease have given rise to many novel questions. 28167212 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 Biomarker disease BEFREE Taking into account that connexin-43 (Cx43) (together with Cx30) is heavily expressed in astrocytes and that drebrin supports cell-cell contacts, the understanding of details of how brain cells live and die reveals molecular pathology involved in neurodegeneration, Alzheimer's disease (AD), other cognitive disorders, and aging.Bidirectional connexin channels are permeable to Ca<sup>2+</sup> ions, IP3, ATP, and cAMP. 28865023 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 Biomarker disease BEFREE Phosphorylation of connexin 43, not previously described in AD, was increased at 42 weeks, consistent with dysregulation of gap junctions and activation of astrocytes. 24006891 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 Biomarker disease BEFREE The findings reveal that the optimized turmeric extract HSS-888 represents an important step in botanical based therapies for Alzheimer's disease by inhibiting or improving plaque burden, Tau phosphorylation, and microglial inflammation leading to neuronal toxicity. 21875408 2012