Inhibition of the Neuronal Calcium Sensor DREAM Modulates Presenilin-2 Endoproteolysis [PDF]
Frontiers in Molecular Neuroscience, 2018 Deregulated intracellular Ca2+ and protein homeostasis underlie synaptic dysfunction and are common features in neurodegenerative diseases. DREAM, also known as calsenilin or KChIP-3, is a multifunctional Ca2+ binding protein of the neuronal calcium ...
Rocío Naranjo +11 more
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Presenilin mutations disrupt iron homeostasis to promote ferroptosis mediated neurodegeneration in Caenorhabditis elegans [PDF]
Redox BiologyIron is a vital trace element involved in numerous physiological processes, but it becomes toxic when present in excess. Disruption of iron balance in the brain has been linked to the development of neurodegenerative diseases such as Alzheimer's disease (
Kerry C. Ryan +5 more
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Intracellular Calcium Dysregulation by the Alzheimer's Disease-Linked Protein Presenilin 2. [PDF]
Int J Mol Sci, 2020 Alzheimer’s disease (AD) is the most common form of dementia. Even though most AD cases are sporadic, a small percentage is familial due to autosomal dominant mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) genes. AD mutations contribute to the generation of toxic amyloid β (Aβ) peptides and the formation of
Galla L +4 more
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Accelerated Aging Characterizes the Early Stage of Alzheimer’s Disease
Cells, 2022 For Alzheimer’s disease (AD), aging is the main risk factor, but whether cognitive impairments due to aging resemble early AD deficits is not yet defined.
Alessandro Leparulo +5 more
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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
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Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. [PDF]
Ann Clin Transl Neurol, 2019 AbstractObjectiveAutosomal‐dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP). Previously, we reported a rare PSEN2 frameshift variant in an early‐onset AD case (PSEN2 p.K115Efs*11).
Braggin JE +29 more
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Journal of the Formosan Medical Association, 2016 There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients.
Yat-Fung Shea +5 more
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When, where and how? Focus on neuronal calcium dysfunctions in Alzheimer's Disease. [PDF]
, 2016 Alzheimer\u2019s disease (AD), since its characterization as a precise form of dementia with its own pathological hallmarks, has captured scientists\u2019 attention because of its complexity.
AGOSTINI, MARIO, FASOLATO, CRISTINA
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Characterization of the γ-secretase subunit interactome in Arabidopsis thaliana [PDF]
, 2019 Gamma secretase is a multi-subunit complex with aspartic intramembrane protease activity that is involved in the pathogenesis of Alzheimer's disease in humans. In Arabidopsis thaliana, -secretase subunits are localized to endomembrane system compartments
De Jaeger, Geert +7 more
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Presenilin 2 influences miR146 level and activity in microglia. [PDF]
J Neurochem, 2013 AbstractMicroglia, the resident innate immune cells of the CNS, are the primary defenders against microbes and critical to CNS remodeling. Dysregulation of microglial behavior can lead to unchecked pro‐inflammatory activity and subsequent neurodegeneration.
Jayadev S +5 more
europepmc +4 more sources