Výsledky vyhledávání - "genetics [Protein Aggregation, Pathological]"

Multiple distinct pathways lead to hyperubiquitylated insoluble TDP-43 protein independent of its translocation into stress granules

Autor: Hanna Glasebach, Friederike Hans, Philipp J. Kahle

Publikováno v: The journal of biological chemistry 295(3), 673-689 (2019). doi:10.1074/jbc.RA119.010617
J Biol Chem

Insoluble, hyperubiquitylated TAR DNA-binding protein of 43 kDa (TDP-43) in the central nervous system characterizes frontotemporal dementia and ALS in many individuals with these neurodegenerative diseases. The causes for neuropathological TDP-43 ag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aeb0acdf72640fe456c545974eb3808
https://doi.org/10.1016/s0021-9258(17)49926-1

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Alpha‐synuclein at the nexus of genes and environment: the impact of environmental enrichment and stress on brain health and disease

Autor: Julia M. Schulze-Hentrich, Zinah Wassouf

Publikováno v: Journal of Neurochemistry
Journal of neurochemistry 150(5), 591-604 (2019). doi:10.1111/jnc.14787

Accumulation of alpha-synuclein protein aggregates is the hallmark neuropathologic feature of synucleinopathies such as Parkinson's disease. Rare point mutations and multiplications in SNCA, the gene encoding alpha-synuclein, as well as other genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62d4f38ee518a83c33031b29b0b78ac
https://doi.org/10.1111/jnc.14787

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Prominent microglial inclusions in transgenic mouse models of alpha-synucleinopathy that are distinct from neuronal lesions

Autor: Ulrike Obermüller, Mathias Jucker, Deborah Kronenberg-Versteeg, Mehtap Bacioglu, Melanie Barth, Angelos Skodras, Jasmin Mahler, Gaye Tanriöver, Philipp J. Kahle, Yvonne S. Eisele, Manuel Schweighauser, Derya R. Shimshek, Bettina M. Wegenast-Braun, K. Peter R. Nilsson

Publikováno v: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-11 (2020)
Acta Neuropathologica Communications 8(1), 133 (2020). doi:10.1186/s40478-020-00993-8

Alpha-synucleinopathies are a group of progressive neurodegenerative disorders, characterized by intracellular deposits of aggregated alpha-synuclein (alpha S). The clinical heterogeneity of these diseases is thought to be attributed to conformers (o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6290ce4a5391f9a561c882cc5dbce98e
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-169230

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Seeding and transgenic overexpression of alpha‐synuclein triggers dendritic spine pathology in the neocortex

Autor: Jochen Herms, Armin Giese, Lidia Blazquez-Llorca, Finn Peters, Sonja Blumenstock, Eva Ferreira Rodrigues, Felix Schmidt

Publikováno v: EMBO molecular medicine 9(5), 716-731 (2017). doi:10.15252/emmm.201607305
EMBO Molecular Medicine

Although misfolded and aggregated α‐synuclein (α‐syn) is recognized in the disease progression of synucleinopathies, its role in the impairment of cortical circuitries and synaptic plasticity remains incompletely understood. We investigated how

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3419b2179933940c0b3296f191dc51a7
https://doi.org/10.15252/emmm.201607305

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Screening of a neuronal cell model of tau pathology for therapeutic compounds

Autor: Ana Kitanovic, Philip Denner, Birgit Kurkowsky, Eckhard Mandelkow, Marcus Pickhardt, Michele Tassoni, Eugenio Fava, Christoph Möhl

Publikováno v: Neurobiology of aging 76, 24-34 (2019). doi:10.1016/j.neurobiolaging.2018.11.026
Neurobiology of Aging

We have developed a cell-based phenotypic automated high-content screening approach for N2a cells expressing the pro-aggregant repeat domain of tau protein (tauRDΔK), which allows analysis of a chemogenomic library of 1649 compounds for their effect

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Physiological and pathophysiological characteristics of ataxin-3 isoforms

Autor: Sandra Maria Dold, Barbara Peixoto Pinheiro, Jana Schmidt, Corinna Ruess, Olaf Riess, Thorsten Schmidt, Felix von Zweydorf, Christian Johannes Gloeckner, Juliane Schneider, Daniel Weishäupl

Publikováno v: The journal of biological chemistry 294(2), 644-661 (2018). doi:10.1074/jbc.RA118.005801

Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The ATXN3 gene is alternatively spliced, resulting in protein isoforms that differ in the number of ubiquitin-interacting m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5a18504991cf93c6b173caa972b2b9f
https://pub.dzne.de/record/140440

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An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

Autor: Christian Haass, Dieter Edbauer

Publikováno v: Current opinion in neurobiology 36, 99-106 (2016). doi:10.1016/j.conb.2015.10.009

Expansion of a GGGGCC repeat in C9orf72 causes amyotrophic lateral sclerosis, frontotemporal dementia, or a combination of both. Bidirectional repeat transcripts sequester RNA-binding proteins into nuclear RNA foci. The repeat is translated into dipe

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Neurogenetic contributions to amyloid beta and tau spreading in the human cortex

Autor: Jorge Sepulcre, Georges El-Fakhri, Heidi I.L. Jacobs, Laura Ortiz-Terán, Hyun-Sik Yang, Quanzheng Li, Michel J. Grothe, Keith A. Johnson, Bernard Hanseeuw, Federico d'Oleire Uquillas, Ibai Diez, Reisa A. Sperling

Publikováno v: Nature medicine 24(12), 1910-1918 (2018). doi:10.1038/s41591-018-0206-4
Nature medicine, Vol. 24, no.12, p. 1910-1918 (2018)
Nature medicine, Vol. 24, no. 12, p. 1910-1918 (2018)

Tau and amyloid beta (Aβ) proteins accumulate along neuronal circuits in Alzheimer’s disease. Unraveling the genetic background for the regional vulnerability of these proteinopathies can help in understanding the mechanisms of pathology progressi

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https://pub.dzne.de/record/140370

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Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

Publikováno v: Nature Communications 9, 335 (2018). doi:10.1038/s41467-017-02299-1
Nature Communications
Nature Communications 9(1), 335 (2018). doi:10.1038/s41467-017-02299-1
Nature communications, 9(1). Nature Publishing Group
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Nature Communications 9(2018), 335
Nature Communications, 9, pp. 1-17
Nature Communications, 9, 1-17

Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. Proper shuttling between the nucleus and cytoplasm is essential for physiological cell

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https://publications.rwth-aachen.de/record/757240

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Prion Replication in the Mammalian Cytosol: Functional Regions within a Prion Domain Driving Induction, Propagation, and Inheritance

Autor: Romina Bester, Peer-Hendrik Kuhn, Katrin Riemschoss, Ina Vorberg, Yvonne Duernberger, Shu Liu, Manuel Schölling, Lydia Paulsen, Stefan F. Lichtenthaler

Publikováno v: Molecular and cellular biology 38(15), e00111-18/mcb/38/15/e00111-18.atom (2018). doi:10.1128/MCB.00111-18
Molecular and Cellular Biology

Prions of lower eukaryotes are transmissible protein particles that propagate by converting homotypic soluble proteins into growing protein assemblies. Prion activity is conferred by so-called prion domains, regions of low complexity that are often e

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https://mediatum.ub.tum.de/doc/1525805/document.pdf

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