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Assessment of normal and mutant human presenilin function in Caenorhabditis elegans.
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The A246E mutation exhibits reduced ability to rescue phenotypes caused by PS homologue deficiency in C. elegans and Drosophila, further arguing that this mutation does indeed compromise the biological activity of PS1.
SHOW DetailsAlternative statements
Supporting(2)
Consistent(1)
Inconsistent(1)
Alternative to: (2)
Genes/Proteins: (2)
Experimental Approach: Genetics, Animal modelsInconsistent statements
Pathogenic Narrative Tags: Perturbation
Supporting Evidence
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Levitan D,
Doyle T,
Brousseau D,
Lee M,
Thinakaran G,
Slunt H,
Sisodia S,
Greenwald I
Assessment of normal and mutant human presenilin function in Caenorhabditis elegans.
Proceedings of the National Academy of Sciences of the United States of America. 1996 Dec 10;93(25):14940-4 -
Seidner G,
Ye Y,
Faraday M,
Alvord W,
Fortini M
Modeling clinically heterogeneous presenilin mutations with transgenic Drosophila.
Current biology : CB. 2006 May 23;16(10):1026-33
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PS1-A246E is a mild mutation reducing S3 cleavage of Notch only by 20%, resolving a discrepancy that this mutation is not able to rescue Notch deficiency in C. elegans, but is at least partially able to rescue Notch-deficient phenotypes in PS1 knockout mice.
Bentahir M
Nyabi O
Verhamme J
Tolia A
Horré K
Wiltfang J
Esselmann H
De Strooper B
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In PS1 deficient fibroblasts stably expressing APP695Swe, PS1delta9, PS1-L166P and PS2-N141I demonstrated loss of function in Abeta40 production, whereas PS1-G384A and PS1-A246E effect was not statistically significant
Bentahir M
Nyabi O
Verhamme J
Tolia A
Horré K
Wiltfang J
Esselmann H
De Strooper B
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FAD PS1-A246E mutant partially rescues notch signalling-deficient phenotypes in Ps1-deficient mice, suggesting at least partial function.
Bentahir M
Nyabi O
Verhamme J
Tolia A
Horré K
Wiltfang J
Esselmann H
De Strooper B
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FAD PS1-G384A and PS1-A246E mutant proteins were as efficient as wild type PS1 in processing APP, syndecan 3 and N-cadherin CTF substrates.
Bentahir M
Nyabi O
Verhamme J
Tolia A
Horré K
Wiltfang J
Esselmann H
De Strooper B
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PubMed
