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  1. Article ; Online: Resistant and Resilient mutations in protection against familial Alzheimer's disease: learning from nature.

    Sepulveda-Falla, Diego

    Molecular neurodegeneration

    2023  Volume 18, Issue 1, Page(s) 36

    MeSH term(s) Humans ; Alzheimer Disease/genetics ; Mutation/genetics ; Brain ; Presenilin-1/genetics
    Chemical Substances Presenilin-1
    Language English
    Publishing date 2023-06-01
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2244557-2
    ISSN 1750-1326 ; 1750-1326
    ISSN (online) 1750-1326
    ISSN 1750-1326
    DOI 10.1186/s13024-023-00626-3
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  2. Article ; Online: Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

    Kalaria, Rajesh N / Sepulveda-Falla, Diego

    The American journal of pathology

    2021  Volume 191, Issue 11, Page(s) 1888–1905

    Abstract: Alzheimer disease (AD) is the most common cause of dementia. Biological definitions of AD are limited to the cerebral burden of amyloid β plaques, neurofibrillary pathology, and neurodegeneration. However, current evidence suggests that various features ... ...

    Abstract Alzheimer disease (AD) is the most common cause of dementia. Biological definitions of AD are limited to the cerebral burden of amyloid β plaques, neurofibrillary pathology, and neurodegeneration. However, current evidence suggests that various features of small vessel disease (SVD) are part of and covertly modify both sporadic and familial AD. Neuroimaging studies suggest that white matter hyperintensities explained by vascular mechanisms occurs frequently in the AD spectrum. Recent advances have further emphasized that frontal periventricular and posterior white matter hyperintensities are associated with cerebral amyloid angiopathy in familial AD. Although whether SVD markers precede the classically recognized biomarkers of disease is debatable, post-mortem studies show that SVD pathology incorporating small cortical and subcortical infarcts, microinfarcts, microbleeds, perivascular spacing, and white matter attenuation is commonly found in sporadic as well as in mutation carriers with confirmed familial AD. Age-related cerebral vessel pathologies such as arteriolosclerosis and cerebral amyloid angiopathy modify progression or worsen risk by shifting the threshold for cognitive impairment and AD dementia. The incorporation of SVD as a biomarker is warranted in the biological definition of AD. Therapeutic interventions directly reducing the burden of brain amyloid β have had no major impact on the disease or delaying cognitive deterioration, but lowering the risk of vascular disease seems the only rational approach to tackle both early- and late-onset AD dementia.
    MeSH term(s) Alzheimer Disease/pathology ; Cerebral Small Vessel Diseases/pathology ; Humans
    Language English
    Publishing date 2021-07-28
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2943-9
    ISSN 1525-2191 ; 0002-9440
    ISSN (online) 1525-2191
    ISSN 0002-9440
    DOI 10.1016/j.ajpath.2021.07.004
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    In stock of ZB MED Cologne/Königswinter

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  3. Book ; Online ; Thesis: Susceptibility to cellular stress in PS1 mutant N2a cells is associated with mitochondrial defects and altered calcium homeostasis

    Calero-Martinez, Sergio Alexander Verfasser] / [Glatzel, Markus [Akademischer Betreuer] / Sepulveda-Falla, Diego [Akademischer Betreuer]

    2023  

    Author's details Sergio Alexander Calero-Martinez ; Markus Glatzel, Diego Sepulveda-Falla
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language English
    Publisher Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky
    Publishing place Hamburg
    Document type Book ; Online ; Thesis
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  4. Article ; Online: Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease.

    Sepulveda-Falla, Diego / Vélez, Jorge I / Acosta-Baena, Natalia / Baena, Ana / Moreno, Sonia / Krasemann, Susanne / Lopera, Francisco / Mastronardi, Claudio A / Arcos-Burgos, Mauricio

    Alzheimer's & dementia : the journal of the Alzheimer's Association

    2024  Volume 20, Issue 4, Page(s) 2873–2885

    Abstract: Introduction: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD.: Methods: RCD was evaluated in 62 ... ...

    Abstract Introduction: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD.
    Methods: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole-exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue.
    Results: One hundred seventy-two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey-Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons.
    Discussion: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients.
    MeSH term(s) Humans ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/metabolism ; Brain/metabolism ; Neurons/metabolism ; Presenilin-1/genetics ; Presenilin-1/metabolism ; Mutation/genetics
    Chemical Substances Presenilin-1 ; PSEN1 protein, human
    Language English
    Publishing date 2024-03-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2211627-8
    ISSN 1552-5279 ; 1552-5260
    ISSN (online) 1552-5279
    ISSN 1552-5260
    DOI 10.1002/alz.13754
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6316: Show issues Location:
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  5. Article ; Online: Losing sleep over mitochondria: a new player in the pathophysiology of fatal familial insomnia.

    Glatzel, Markus / Sepulveda-Falla, Diego

    Brain pathology (Zurich, Switzerland)

    2016  Volume 27, Issue 1, Page(s) 107–108

    Abstract: This commentary highlights the study by Frau-Mendez and coworkers in this issue of Brain Pathology (xxx) in which the authors show evidence for involvement of mitochondria in the pathophysiology of fatal familial insomnia (FFI). Using genetic, ... ...

    Abstract This commentary highlights the study by Frau-Mendez and coworkers in this issue of Brain Pathology (xxx) in which the authors show evidence for involvement of mitochondria in the pathophysiology of fatal familial insomnia (FFI). Using genetic, biochemical and morphological means, they provide a comprehensive picture of the degree of mitochondrial damage in FFI and show that this leads to increased oxidative stress. This adds FFI to the growing list of dementias with mitochondrial involvement. Future studies will have to address the causality dilemma of which came first, mitochondrial damage and subsequent neurodegeneration or vice versa. Either way, these data provide the basis to devise novel therapeutic strategies for FFI.
    MeSH term(s) Humans ; Insomnia, Fatal Familial/genetics ; Mitochondria ; Sleep ; Thalamus
    Language English
    Publishing date 2016-08-02
    Publishing country Switzerland
    Document type Journal Article ; Comment
    ZDB-ID 1051484-3
    ISSN 1750-3639 ; 1015-6305
    ISSN (online) 1750-3639
    ISSN 1015-6305
    DOI 10.1111/bpa.12410
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3585: Show issues Location:
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  6. Article: Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

    Soto-Ospina, Alejandro / Araque Marín, Pedronel / Bedoya, Gabriel / Sepulveda-Falla, Diego / Villegas Lanau, Andrés

    Frontiers in molecular biosciences

    2021  Volume 8, Page(s) 649990

    Abstract: Alzheimer's disease pathology is characterized by β-amyloid plaques and neurofibrillary tangles. Amyloid precursor protein is processed by β and γ secretase, resulting in the production of β-amyloid peptides with a length ranging from 38 to 43 amino ... ...

    Abstract Alzheimer's disease pathology is characterized by β-amyloid plaques and neurofibrillary tangles. Amyloid precursor protein is processed by β and γ secretase, resulting in the production of β-amyloid peptides with a length ranging from 38 to 43 amino acids. Presenilin 1 (PS1) is the catalytic unit of γ-secretase, and more than 200 PS1 pathogenic mutations have been identified as causative for Alzheimer's disease. A complete monocrystal structure of PS1 has not been determined so far due to the presence of two flexible domains. We have developed a complete structural model of PS1 using a computational approach with structure prediction software. Missing fragments Met1-Glut72 and Ser290-Glu375 were modeled and validated by their energetic and stereochemical characteristics. Then, with the complete structure of PS1, we defined that these fragments do not have a direct effect in the structure of the pore. Next, we used our hypothetical model for the analysis of the functional effects of PS1 mutations Ala246GLu, Leu248Pro, Leu248Arg, Leu250Val, Tyr256Ser, Ala260Val, and Val261Phe, localized in the catalytic pore. For this, we used a quantum mechanics/molecular mechanics (
    Language English
    Publishing date 2021-06-02
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2814330-9
    ISSN 2296-889X
    ISSN 2296-889X
    DOI 10.3389/fmolb.2021.649990
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  7. Article ; Online: Loss of Homeostatic Microglia Signature in Prion Diseases.

    Wang, Yue / Hartmann, Kristin / Thies, Edda / Mohammadi, Behnam / Altmeppen, Hermann / Sepulveda-Falla, Diego / Glatzel, Markus / Krasemann, Susanne

    Cells

    2022  Volume 11, Issue 19

    Abstract: Prion diseases are neurodegenerative diseases that affect humans and animals. They are always fatal and, to date, no treatment exists. The hallmark of prion disease pathophysiology is the misfolding of an endogenous protein, the cellular prion protein ( ... ...

    Abstract Prion diseases are neurodegenerative diseases that affect humans and animals. They are always fatal and, to date, no treatment exists. The hallmark of prion disease pathophysiology is the misfolding of an endogenous protein, the cellular prion protein (PrP
    MeSH term(s) Animals ; Homeostasis ; Humans ; Mice ; Microglia/metabolism ; Neurodegenerative Diseases/metabolism ; Prion Diseases/metabolism ; Prion Proteins/metabolism ; Prions/metabolism ; Protein Isoforms/metabolism
    Chemical Substances Prion Proteins ; Prions ; Protein Isoforms
    Language English
    Publishing date 2022-09-21
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells11192948
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  8. Article: Reactive Astrocytes Contribute to Alzheimer's Disease-Related Neurotoxicity and Synaptotoxicity in a Neuron-Astrocyte Co-culture Assay.

    Wasilewski, David / Villalba-Moreno, Nelson David / Stange, Inke / Glatzel, Markus / Sepulveda-Falla, Diego / Krasemann, Susanne

    Frontiers in cellular neuroscience

    2022  Volume 15, Page(s) 739411

    Abstract: Pathological hallmarks of Alzheimer's disease (AD) include deposition and accumulation of amyloid- β (Aβ), neurofibrillary tangle formation, and neuronal loss. Pathogenesis of presymptomatic disease stages remains elusive, although studies suggest that ... ...

    Abstract Pathological hallmarks of Alzheimer's disease (AD) include deposition and accumulation of amyloid- β (Aβ), neurofibrillary tangle formation, and neuronal loss. Pathogenesis of presymptomatic disease stages remains elusive, although studies suggest that the early structural and functional alterations likely occur at neuronal dendritic spines. Presymptomatic alterations may also affect different CNS cell types. However, specific contributions of these cell types as cause or consequence of pathology are difficult to study
    Language English
    Publishing date 2022-01-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452963-1
    ISSN 1662-5102
    ISSN 1662-5102
    DOI 10.3389/fncel.2021.739411
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  9. Article ; Online: Neural Plasticity during Aging.

    Arcos-Burgos, Mauricio / Lopera, Francisco / Sepulveda-Falla, Diego / Mastronardi, Claudio

    Neural plasticity

    2019  Volume 2019, Page(s) 6042132

    MeSH term(s) Aging ; Brain/physiology ; Healthy Aging ; Humans ; Neuronal Plasticity
    Language English
    Publishing date 2019-03-26
    Publishing country United States
    Document type Editorial
    ZDB-ID 1454938-4
    ISSN 1687-5443 ; 2090-5904 ; 0792-8483
    ISSN (online) 1687-5443
    ISSN 2090-5904 ; 0792-8483
    DOI 10.1155/2019/6042132
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3305: Show issues Location:
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  10. Article ; Online: Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer's Disease.

    Acosta-Baena, Natalia / Lopera-Gómez, Carlos M / Jaramillo-Elorza, Mario C / Velilla-Jiménez, Lina / Villegas-Lanau, Carlos Andrés / Sepúlveda-Falla, Diego / Arcos-Burgos, Mauricio / Lopera, Francisco

    Journal of Alzheimer's disease : JAD

    2023  Volume 92, Issue 3, Page(s) 911–923

    Abstract: Background: Depression is associated with Alzheimer's disease (AD).: Objective: To evaluate the association between depressive symptoms and age of onset of cognitive decline in autosomal dominant AD, and to determine possible factors associated to ... ...

    Abstract Background: Depression is associated with Alzheimer's disease (AD).
    Objective: To evaluate the association between depressive symptoms and age of onset of cognitive decline in autosomal dominant AD, and to determine possible factors associated to early depressive symptoms in this population.
    Methods: We conducted a retrospective study to identify depressive symptoms among 190 presenilin 1 (PSEN1) E280A mutation carriers, subjected to comprehensive clinical evaluations in up to a 20-year longitudinal follow-up. We controlled for the following potential confounders: APOE, sex, hypothyroidism, education, marital status, residence, tobacco, alcohol, and drug abuse.
    Results: PSEN1 E280A carriers with depressive symptoms before mild cognitive impairment (MCI) develop dementia faster than E280A carriers without depressive symptoms (Hazard Ratio, HR = 1.95; 95% CI, 1.15-3.31). Not having a stable partner accelerated the onset of MCI (HR = 1.60; 95 % CI, 1.03-2.47) and dementia (HR = 1.68; 95 % CI, 1.09-2.60). E280A carriers with controlled hypothyroidism had later age of onset of depressive symptoms (HR = 0.48; 95 % CI, 0.25-0.92), dementia (HR = 0.43; 95 % CI, 0.21-0.84), and death (HR = 0.35; 95 % CI, 0.13-0.95). APOEɛ2 significantly affected AD progression in all stages. APOE polymorphisms were not associate to depressive symptoms. Women had a higher frequency and developed earlier depressive symptoms than men throughout the illness (HR = 1.63; 95 % CI, 1.14-2.32).
    Conclusion: Depressive symptoms accelerated progress and faster cognitive decline of autosomal dominant AD. Not having a stable partner and factors associated with early depressive symptoms (e.g., in females and individuals with untreated hypothyroidism), could impact prognosis, burden, and costs.
    MeSH term(s) Female ; Humans ; Male ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Alzheimer Disease/diagnosis ; Apolipoproteins E/genetics ; Cognitive Dysfunction/epidemiology ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/diagnosis ; Depression/epidemiology ; Depression/genetics ; Disease Progression ; Retrospective Studies
    Chemical Substances Apolipoproteins E
    Language English
    Publishing date 2023-02-04
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-221294
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