Molecular pathological classification of neurodegenerative diseases: turning towards precision medicine

GG Kovacs - International journal of molecular sciences, 2016 - mdpi.com
Neurodegenerative diseases (NDDs) are characterized by selective dysfunction and loss of
neurons associated with pathologically altered proteins that deposit in the human brain but …

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

OD King, AD Gitler, J Shorter - Brain research, 2012 - Elsevier
Prions are self-templating protein conformers that are naturally transmitted between
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

C Lagier-Tourenne, M Polymenidou, KR Hutt… - Nature …, 2012 - nature.com
FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved
in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We found that FUS/TLS …

[HTML][HTML] A liquid-to-solid phase transition of the ALS protein FUS accelerated by disease mutation

A Patel, HO Lee, L Jawerth, S Maharana, M Jahnel… - Cell, 2015 - cell.com
Many proteins contain disordered regions of low-sequence complexity, which cause aging-
associated diseases because they are prone to aggregate. Here, we study FUS, a prion-like …

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

IRA Mackenzie, R Rademakers… - The Lancet Neurology, 2010 - thelancet.com
Abnormal intracellular protein aggregates comprise a key characteristic in most
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

C Lagier-Tourenne, M Polymenidou… - Human molecular …, 2010 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are
neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of …

The role of FUS gene variants in neurodegenerative diseases

H Deng, K Gao, J Jankovic - Nature Reviews Neurology, 2014 - nature.com
The neurodegenerative diseases are a diverse group of disorders characterized by
progressive loss of specific groups of neurons. These diseases affect different populations …

Genetic mutations in RNA-binding proteins and their roles in ALS

K Kapeli, FJ Martinez, GW Yeo - Human genetics, 2017 - Springer
Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical
determinants of neurological diseases, especially motor neuron disorders such as …

Concepts and classification of neurodegenerative diseases

GG Kovacs - Handbook of clinical neurology, 2018 - Elsevier
Neurodegenerative diseases are disorders characterized by progressive loss of neurons
associated with deposition of proteins showing altered physicochemical properties in the …

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

Z Sun, Z Diaz, X Fang, MP Hart, A Chesi, J Shorter… - PLoS …, 2011 - journals.plos.org
TDP-43 and FUS are RNA-binding proteins that form cytoplasmic inclusions in some forms
of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) …