Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.

Abstract

Mutations in the homologous presenilin 1 (PS1) and presenilin 2 (PS2) genes cause the most common and aggressive form of familial Alzheimer's disease. Although PS1 function and dysfunction have been extensively studied, little is known about the function of PS2 in vivo. To delineate the relationships of PS2 and PS1 activities and whether PS2 mutations… (More)

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@article{Herreman1999Presenilin2D, title={Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.}, author={An Herreman and D. Hartmann and Wim G. Annaert and Paul Saftig and Katleen Craessaerts and Lutgarde Serneels and Lieve Umans and Vincent Schrijvers and Fr{\'e}d{\'e}ric Checler and Hugo Marcel Johan Vanderstichele and Veerle Baekelandt and Ralf Dressel and Philippe Cupers and Danny Huylebroeck and An Zwijsen and Fred van Leuven and Bart De Strooper}, journal={Proceedings of the National Academy of Sciences of the United States of America}, year={1999}, volume={96 21}, pages={11872-7} }