Výsledky vyhledávání - "Amyloid Precursor Protein Secretases/genetics"

Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome

Autor: Bart De Strooper, Claudia Bagni, Monica Di Luca, Sébastien Jacquemont, Ulrike Müller, Flora Tassone, Rudi D'Hooge, Detlef Balschun, Tariq Ahmed, Carlos G. Dotti, Laura Pacini, Zsuzsanna Callaerts-Vegh, Tina Wahle, Fabrizio Gardoni, Emanuela Pasciuto, Laura D'Andrea

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Neuron

© 2015 Elsevier Inc. The Fragile X mental retardation protein (FMRP) regulates neuronal RNA metabolism, and its absence or mutations leads to the Fragile X syndrome (FXS). The β-amyloid precursor protein (APP) is involved in Alzheimer's disease, pl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef16ee38b2f96b11051f7114593b71f4
https://doi.org/10.1016/j.neuron.2015.06.032

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Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

Autor: Veerle Baert, H. Joseph Yost, Nathalie Jurisch-Yaksi, Przemko Tylzanowski, Tim Raemaekers, Applonia Josephine Rose, Guy Froyen, Wendy Vermeire, Cammon B. Arrington, Huiqi Lu, Roel Vandepoel, Emre Yaksi, Daphne Verleyen, Wim Annaert, Pieter Baatsen, Sebastian Munck, Thomy de Ravel, Suzie J. Scales

Publikováno v: The Journal of Cell Biology

Rer1p is an ER/cis-Golgi membrane protein that maintains ciliary length and function by reducing γ-secretase complex assembly and activity (thereby balancing Notch signaling) and increasing Foxj1a expression.
Cilia project from the surface of m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0670771d5653c4e13cbdb72f0604ace
http://europepmc.org/articles/PMC3601348

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APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease

Autor: Christine Van Broeckhoven, Karolien Bettens, Jessie Theuns, Helen Van Miegroet, Nathalie Brouwers, Peter Paul De Deyn, Kristel Sleegers, Sebastiaan Engelborghs

Publikováno v: Human mutation

Expression levels of the amyloid precursor protein (APP) and beta-site amyloid (Abeta) cleaving enzyme 1 (BACE1) have been implicated in Alzheimer disease (AD) progression. In a well-characterized Belgian group of 358 AD patients and 462 controls, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12b39554c6f03ac5a5e779466451171e
https://hdl.handle.net/20.500.14017/a6a79ca5-7026-438b-8da3-de0e236f8c12

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