ABCC5 p.Glu22Gln
| Predicted by SNAP2: | A: N (53%), C: D (59%), D: N (53%), F: D (63%), G: D (59%), H: D (53%), I: D (53%), K: D (59%), L: D (53%), M: D (63%), N: D (53%), P: D (66%), Q: N (57%), R: D (59%), S: N (61%), T: N (53%), V: D (53%), W: D (63%), Y: D (63%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Clinico-pathologic function of cerebral ABC transp... Curr Alzheimer Res. 2008 Aug;5(4):396-405. Pahnke J, Wolkenhauer O, Krohn M, Walker LC
Clinico-pathologic function of cerebral ABC transporters - implications for the pathogenesis of Alzheimer's disease.
Curr Alzheimer Res. 2008 Aug;5(4):396-405., [PMID:18690837]
Abstract [show]
In recent years it has become evident that ABC transporters fulfill important barrier functions in normal organs and during disease processes. Most importantly, resistance to drugs in cancer cells led to intense oncological and pharmacological investigations in which researchers were able to highlight important pharmacological interactions of chemotherapeuticals with ABC transporter function. Recently, the development of neurodegenerative diseases and the maintenance of neuronal stem cells have been linked to the activity of ABC transporters. Here, we summarize findings from cell culture experiments, animal models and studies of patients with Alzheimer's disease. Furthermore, we discuss pharmacological interactions and computational methods for risk assessment.
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No. Sentence Comment
218 Charge changes as known from Dutch-A (E22Q) lead to hampered transport.
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ABCC5 p.Glu22Gln 18690837:218:38
status: NEW