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Genes (10)
Species:
human : 10 | |
| Human | BACE1 | 23621 | beta-site APP-cleaving enzyme 1 | beta-Secretase cleavage of the amyloid precursor protein mediates neuronal apoptosis caused by familial ALzheimer's disease mutations | | Human | PTGER2 | 5732 | prostaglandin E receptor 2 (subtype EP2), 53kDa | a novel proinflammatory and proamyloidogenic function for the PGE2 EP2 receptor is demonstrated in a model of familial Alzheimer's disease | | Human | PSEN2 | 5664 | presenilin 2 (Alzheimer disease 4) | Four verified PS2 familial Alzheimer disease(FAD) mutations cause substantial changes in the Abeta 42/40 ratio, like PS1 mutations that cause very-early-onset FAD and may represent partial loss of function mutations In fibroblasts from familial Alzheimer's disease the presenilin 2 mutation Thr122Arg reduces both Ca2+ release from and capacitative Ca2+ entry to intracellular stores, revealing a modulatory role in disease pathogenesis Familial Alzheimer's disease (FAD)-linked Presenilin mutants lower the Ca(2+) content of intracellular stores | | Human | PSEN1 | 5663 | presenilin 1 | Title:A Japanese family with familial Alzheimer's disease associated with presenilin 1 mutation: relationship between younger age of onset and ApoE gene polymorphism|Association:Y|Conclusion:Not Found The FAD (familial Alzheimer's disease)-linked PS1 variant produces transcriptome changes primarily by gain of aberrant function in transfected mice This novel presenilin 1 (PS1) gene mutation is likely to be causative of Chinese familial Alzheimer's disease I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta The missense mutation in exon 5 of presenilin-1 (PS-1) gene, found in this Alzheimer's disease family, may be one of the responsible PS-1 gene mutations for familial Alzheimer disease in Chinese Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism Data show that familial Alzheimer's disease cases with mutations in the presenilin 1 gene exhibit significantly more tau-positive neurofibrillary tangle than sporadic Alzheimer's disease cases A novel mutation (L250V) was found in the presenilin 1 gene in a Japanese case of familial Alzheimer's disease with myoclonus and generalized convulsion In the PS1 familial Alzheimer's disease brain, cyclin D1 accumulation may occur and lead to neuronal apoptosis secondary to an abortive entry into the cell cycle In a case-control association study in an Italian population there is a significant association in PSEN-1 carriers of a glutamic acid318glycine mutation and familial Alzheimer's disease Many familial Alzheimer disease mutations in presenilins are loss-of-function mutations affecting endoplasmic reticulum calcium (Ca2+) leak activity, consistent with the potential role of disturbed Ca2+ homeostasis in Alzheimer disease pathogenesis the familial Alzheimer's disease-linked PS1 mutation accelerates the cleavage of caspase-4 under the endoplasmic reticulum stress | | Human | HFE | 3077 | hemochromatosis | H63D mutation in HFE(hemochromatosis protein) may not contribute with the anticipation of either sporadic or familial Alzheimers disease | | Human | ACE | 1636 | angiotensin I converting enzyme | Study data suggests that the ACE insertion/deltion polymorphism is not a susceptibility factor in sporadic and familial Alzheimer's disease, nor does it mitigate the effect of the APOE epsilon4 allele in the risk of developing AD | | Human | CTSD | 1509 | cathepsin D | Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. patients and controls. our data do not support a role for the catD gene as a genetic risk factor in the development of AD | | Human | CASP4 | 837 | caspase 4, apoptosis-related cysteine peptidase | the familial Alzheimer's disease-linked presenilin 1 mutation accelerates the cleavage of caspase-4 under the endoplasmic reticulum stress | | Human | APP | 351 | amyloid beta (A4) precursor protein | I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta Findings show a close association between Abeta deposition and nigrostriatal pathology in transgenic mice and suggest that altered familial Alzheimer's disease-linked amyloid metabolism impairs, at least in part, the function of dopaminergic neurons an increase in the ratio of Abeta(WT)/Abeta(MUT(Arctic)) may result in the accumulation of potential neurotoxic protofibrils and acceleration of disease progression in familial Alzheimer's disease mutation carriers familial Alzheimer's disease mutations in the polypeptide backbone of APP can affect processing of the attached N-glycans; however, whether these changes in N-glycosylation affect Abeta production remains to be established Familial Alzheimer's disease mutations affect CTFgamma generation | | Human | APBA1 | 320 | amyloid beta (A4) precursor protein-binding, family A, member 1 | human X11alpha inhibits Abeta production and deposition in vivo in the brain in transgenic mice harboring a familial Alzheimer's disease mutant APP that produces increased levels of Abeta |
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