CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage
Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
Author
Newcastle UniversityORCID 0000-0003-1636-1700Unclaimed ORCID profile · follow to get notified of new preprints
8 papers
Recent·Most cited
Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
Emma L. Short, ICCARP, Ian Michael Adcock…·Werner Kempf
The paper establishes international consensus criteria to classify ageing-related pathologies, diseases, and syndromes based on age progression, functional decline, and human evidence.
Simona S. Ghanem, Jade I. Hawksworth, Searlait Thom…·Daniel Erskine
This study examines alpha-synuclein pathology in metachromatic leukodystrophy (MLD) brain tissue, finding seed-competent alpha-synuclein conformers in juvenile-onset cases, similar to Lewy body diseases.
David J. Koss, Olivia Todd, Hariharan Menon…·Tiago F. Outeiro
This study shows DNA damage and repair dysfunction are linked to alpha-synuclein pathology in dementia with Lewy bodies, with DNA damage-derived material found within Lewy bodies.
Nauman Malik, Mohi-Uddin Miah, Alessandro Galgani…·David J. Koss
This study shows that intracellular Aβ correlates with AT-8 phosphorylated tau in frontal cortex tissue from non-AD and AD brains, supporting the revised amyloid cascade hypothesis.
Franziska Hopfner, Anja K. Tietz, Viktoria Ruf…·Günter U. Höglinger
Kurt W. Farrell, SoongHo Kim, Natalia Han…·John F. Crary
This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.
Luke W. Bonham, Celeste M M. Karch, Chun Chieh Fan…·Murray Grossman
The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.