Results 111 to 120 of about 35,583 (221)

Functional Phenotype in Transgenic Mice Expressing Mutant Human Presenilin-1

Neurobiology of Disease, 2000
Mutations in the presenilin-1 (PS1) gene cause approximately 50% of cases of early onset familial Alzheimer's disease. The function of this protein remains unknown.
Paul A. Barrow, Ruth M. Empson, Simon J. Gladwell, Caroline M. Anderson, Richard Killick, Xin Yu, John G.R. Jefferys, Karen Duff   +7 more
doaj   +1 more source

Effect of cold and warm white light on selected endocrine and immune parameters of broiler embryos and hatchlings

Czech Journal of Animal Science, 2020
Lighting conditions during incubation can influence embryonic development, post-hatching ontogeny and production efficiency. Previous studies revealed that different light colours differently affect pineal melatonin biosynthesis in embryos and ...
Angelika Drozdova, Zuzana Kankova, Michal Zeman   +2 more
doaj   +1 more source

Investigating the Interactions Between Protocadherin-19 and Ryk and its Effect on Neurogenesis [PDF]

, 2016
Protocadherins are a large, diverse family of neural cell adhesion proteins, but their functions are not understood. Mutations or in several protocadherins have been associated with neurological disorders.
Liebau, Brandon
core  

A role for presenilin in post-stress regulation: effects of presenilin mutations on Ca2+ currents in Drosophila [PDF]

, 2007
It has been shown that presenilin is involved in maintaining Ca(2+) homeostasis in neurons, including regulating (ER) Ca(2+) storage. From studies of primary cultures and cell lines, however, its role in stress-induced responses is still controversial ...
Fortini, M. E., Hong, Y., Lu, Y., Lv, Y., Wang, Y., Xie, Z., Ye, Y., Zhong, Y.   +7 more
core   +1 more source

Transgenic Zebrafish as a Novel Animal Model to Study Tauopathies and Other Neurodegenerative Disorders in vivo [PDF]

, 2010
Our ageing society is confronted with a dramatic increase in patients suffering from tauopathies such as Alzheimer's disease, frontotemporal dementia and others.
Haass, Christian, Paquet, Dominik, Schmid, Bettina   +2 more
core   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Characterisation of cytoskeletal abnormalities in mice transgenic for wild-type human tau and familial Alzheimer's disease mutants of APP and presenilin-1

Neurobiology of Disease, 2004
To study the role of Aβ amyloid deposits in the generation of cytoskeletal lesions, we have generated a transgenic mouse line coexpressing in the same neurons a wild-type human tau isoform (0N3R), a mutant form of APP (751SL) and a mutant form of PS1 ...
Allal Boutajangout, Michèle Authelet, Véronique Blanchard, N Touchet, Gunter Tremp, Laurent Pradier, Jean-Pierre Brion   +6 more
doaj   +1 more source

Parkin interacts with Ambra1 to induce mitophagy [PDF]

, 2011
Mutations in the gene encoding Parkin are a major cause of recessive Parkinson's disease. Recent work has shown that Parkin translocates from the cytosol to depolarized mitochondria and induces their autophagic removal (mitophagy). However, the molecular
Cornelissen, Tom, De Strooper, Bart, Gevaert, Kris, Hofkens, Hilde, Mandemakers, Wim, Van Humbeeck, Cindy, Vandenberghe, Wim   +6 more
core   +2 more sources

The genetics of Alzheimer's disease

Clinical Interventions in Aging, 2014
Eva Bagyinszky,1 Young Chul Youn,2 Seong Soo A An,1,* SangYun Kim3,*1Department of BioNano Technology Gachon University, Gyeonggi-do, 2Department of Neurology, Chung-Ang University College of Medicine, Seoul, 3Department of Neurology, Seoul National ...
Bagyinszky E, Youn YC, An SSA, Kim SY
doaj  

γ-Secretase Modulators and Presenilin 1 Mutants Act Differently on Presenilin/γ-Secretase Function to Cleave Aβ42 and Aβ43

Cell Reports, 2013
Deciphering the mechanism by which the relative Aβ42(43) to total Aβ ratio is regulated is central to understanding Alzheimer disease (AD) etiology; however, the mechanisms underlying changes in the Aβ42(43) ratio caused by familial mutations and γ ...
Masayasu Okochi, Shinji Tagami, Kanta Yanagida, Mako Takami, Takashi S. Kodama, Kohji Mori, Taisuke Nakayama, Yasuo Ihara, Masatoshi Takeda   +8 more
doaj   +1 more source