Results 21 to 30 of about 24,368 (229)
APP Deficiency Ameliorates FAD Presenilin 1 F105C and A246E Mutations-induced Mitochondrial Dysfunction in Human Cortical Neurons. [PDF]
Int J Biol SciYen YH +8 more
europepmc +3 more sources
Presenilin mutations and their impact on neuronal differentiation in Alzheimer’s disease
Neural Regeneration Research, 2022 The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial Alzheimer’s disease, harboring ~300 causative mutations, and representing ~90% of all mutations associated with a very aggressive disease form. Presenilin 1 is
Mercedes A Hernandez-Sapiens +8 more
doaj +1 more source
Intracellular calcium deficits in Drosophila cholinergic neurons expressing wild type or FAD-mutant presenilin. [PDF]
PLoS ONE, 2009 Much of our current understanding about neurodegenerative diseases can be attributed to the study of inherited forms of these disorders. For example, mutations in the presenilin 1 and 2 genes have been linked to early onset familial forms of Alzheimer's ...
Kinga Michno +4 more
doaj +1 more source
Versatility of presenilin 1 [PDF]
Proceedings of the National Academy of Sciences, 2017 Mutations in PSEN1 and PSEN2 genes, encoding presenilin 1 (PS1) and presenilin 2 (PS2), respectively, cause autosomal-dominant Alzheimer’s disease (ADAD) (1, 2). The precise mechanism by which PS1 mutations lead to AD is under active investigation. Multiple theories have been suggested to explain the role of PS1 and PS2 mutations on AD pathogenesis ...
Georgia R, Frost +2 more
openaire +2 more sources
Protein Topology of Presenilin 1 [PDF]
Neuron, 1996 Mutations in a gene encoding a multitransmembrane protein, termed presenilin 1 (PS1), are causative in the majority of early-onset cases of AD. To determine the topology of PS1, we utilized two strategies: first, we tested whether putative transmembranes are sufficient to export a protease-sensitive substrate across a lipid bilayer; and second, we ...
Doan, Andrew +10 more
openaire +2 more sources
PLoS ONE, 2022 The most commonly accepted hypothesis of Alzheimer's disease (AD) is the amyloid hypothesis caused due to formation of accumulation of Aβ42 isoform, which leads to neurodegeneration.
Reshma Mary Martiz +9 more
doaj +1 more source
Antioxidants, 2022 Mitochondrial dysfunction and oxidative stress are major contributors to the pathophysiology of neurodegenerative diseases, including Alzheimer’s disease (AD).
Kerry C. Ryan +2 more
doaj +1 more source
Presenilin-1 and Memories of the Forebrain [PDF]
Neuron, 2001 In this issue of Neuron, report that forebrain-specific Presenilin-1 conditional knockout mice show defects in enrichment-induced neurogenesis in the dentate gyrus. This defect in neurogenesis is associated with enhanced fear memory of contextual cues when animals are subjected to enrichment between training and testing.
McGuire, Sean E, Davis, Ronald L
openaire +2 more sources
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene? [PDF]
PLoS ONE, 2011 We have used microarray-based methods of global gene expression together with quantitative PCR and Western blot analysis to identify dysregulation of genes and aberrant cellular processes in human fibroblasts and in SH-SY5Y neuroblastoma cells made HPRT ...
Tae Hyuk Kang +3 more
doaj +1 more source
Oligomerization of human presenilin‐1 fragments [PDF]
FEBS Letters, 2003 To gain insight into presenilin‐1 (PS1) structural aspects, we explored the structure–function relationship of its N‐ and C‐terminal (NTF and CTF, respectively) complexes. We demonstrated that both NTF and CTF act as independent but inter‐changing binding units capable of binding each other (NTF/CTF) or their homologues (NTF/NTF; CTF/CTF).
Hébert, Sébastien S +2 more
openaire +2 more sources