Titlebook: Neurodegenerative Disorders: Loss of Function Through Gain of Function; Konrad Beyreuther,Yves Christen,Colin L. Masters Conference procee

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The NEXT Step in Notch Processing and its Relevance to Amyloid Precursor Protein,signals governing their transport and localization in the cell. It is only fitting that, at the close of the millennium, the confluence of several unrelated fields resulted in the emergence of a new paradigm for signal transduction: .egulated .ntramembranous .roteolysis (RIP: Brown et al. 2000) of “

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The Putative Role of Presenilins in the Transmembrane Domain Cleavage of Amyloid Precursor Protein n (Levy-Lahad et al. 1995; Rogaev et al. 1995; Sherrington et al. 1995). Although the exact pathogenic mechanism underlying the disease process remains to be further elucidated, it is fairly established that almost all PS missense mutations affect the processing of the amyloid precursor protein (APP

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,A Gain of Function of the Huntington’s Disease and Amyotrophic Lateral Sclerosis-Associated Genetice (HD), the genetic defect is a CAG repeat expansion in a gene that encodes the protein huntingtin, whose function is unknown. Several lines of evidence have demonstrated that the HD mutation is associated with abnormalities in bioenergetics, both in lymphoblasts of patients as well as in postmortem

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