Molecular pathogenesis of the tauopathies

J Götz, G Halliday, RM Nisbet - Annual Review of Pathology …, 2019 - annualreviews.org
The tauopathies constitute a group of diseases that have Tau inclusions in neurons or glia
as their common denominator. In this review, we describe the biochemical and histological …

The epigenetics of aging and neurodegeneration

R Lardenoije, A Iatrou, G Kenis, K Kompotis… - Progress in …, 2015 - Elsevier
Epigenetics is a quickly growing field encompassing mechanisms regulating gene
expression that do not involve changes in the genotype. Epigenetics is of increasing …

Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies

M Stamelou, G Respondek, N Giagkou… - Nature Reviews …, 2021 - nature.com
Tauopathies are classified according to whether tau deposits predominantly contain tau
isoforms with three or four repeats of the microtubule-binding domain. Those in which four …

The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort

CH Williams-Gray, JR Evans, A Goris, T Foltynie… - Brain, 2009 - academic.oup.com
Cognitive abnormalities are common in Parkinson's disease, with important social and
economic implications. Factors influencing their evolution remain unclear but are crucial to …

Parkinson's disease: genetics and pathogenesis

JM Shulman, PL De Jager… - Annual Review of …, 2011 - annualreviews.org
Recent investigation into the mechanisms of Parkinson's disease (PD) has generated
remarkable insight while simultaneously challenging traditional conceptual frameworks …

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

GU Höglinger, NM Melhem, DW Dickson… - Nature …, 2011 - nature.com
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau
neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most …

Splicing in disease: disruption of the splicing code and the decoding machinery

GS Wang, TA Cooper - Nature Reviews Genetics, 2007 - nature.com
Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …

Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43

A Tarutani, T Adachi, H Akatsu, Y Hashizume… - Acta …, 2022 - Springer
Intracellular accumulation of abnormal proteins with conformational changes is the defining
neuropathological feature of neurodegenerative diseases. The pathogenic proteins that …

Impaired intracellular trafficking defines early Parkinson's disease

BHM Hunn, SJ Cragg, JP Bolam, MG Spillantini… - Trends in …, 2015 - cell.com
Parkinson's disease (PD) is an insidious and incurable neurodegenerative disease, and
represents a significant cost to individuals, carers, and ageing societies. It is defined at post …

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

F Zou, HS Chai, CS Younkin, M Allen, J Crook… - PLoS …, 2012 - journals.plos.org
Genetic variants that modify brain gene expression may also influence risk for human
diseases. We measured expression levels of 24,526 transcripts in brain samples from the …