C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies

SC Vatsavayai, AL Nana, JS Yokoyama… - Acta …, 2019 - Springer
What are the most important and treatable pathogenic mechanisms in C9orf72-FTD/ALS?
Model-based efforts to address this question are forging ahead at a blistering pace, often …

Repeat-associated non-ATG translation: molecular mechanisms and contribution to neurological disease

L Nguyen, JD Cleary… - Annual review of …, 2019 - annualreviews.org
Microsatellite mutations involving the expansion of tri-, tetra-, penta-, or hexanucleotide
repeats cause more than 40 different neurological disorders. Although, traditionally, the …

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

J Vanneste, T Vercruysse, S Boeynaems, A Sicart… - Scientific reports, 2019 - nature.com
Repeat expansions in the C9orf72 gene cause amyotrophic lateral sclerosis and
frontotemporal dementia characterized by dipeptide-repeat protein (DPR) inclusions. The …

[HTML][HTML] Repeat-associated non-AUG (RAN) translation: insights from pathology

M Banez-Coronel, LPW Ranum - Laboratory Investigation, 2019 - Elsevier
More than 40 different neurological diseases are caused by microsatellite repeat
expansions. Since the discovery of repeat-associated non-AUG (RAN) translation by Zu et …

Mechanisms of Immune Activation by c9orf72-Expansions in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

KJ Trageser, C Smith, FJ Herman, K Ono… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are
neurodegenerative disorders with overlapping pathomechanisms, neurobehavioral features …

The coming-of-age of nucleocytoplasmic transport in motor neuron disease and neurodegeneration

PA Ferreira - Cellular and Molecular Life Sciences, 2019 - Springer
The nuclear pore is the gatekeeper of nucleocytoplasmic transport and signaling through
which a vast flux of information is continuously exchanged between the nuclear and …

Glycine-alanine dipeptide repeats spread rapidly in a repeat length-and age-dependent manner in the fly brain

J Morón-Oset, T Supèr, J Esser, AM Isaacs… - Acta neuropathologica …, 2019 - Springer
Hexanucleotide repeat expansions of variable size in C9orf72 are the most prevalent
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Sense and …

Modelling the pathology and behaviour of frontotemporal dementia

DA Solomon, JC Mitchell… - Neuropathology and …, 2019 - Wiley Online Library
Frontotemporal dementia (FTD) encompasses a collection of clinically and pathologically
diverse neurological disorders. Clinical features of behavioural and language dysfunction …

Phenotypic suppression of ALS/FTD-associated neurodegeneration highlights mechanisms of dysfunction

M Bartoletti, DA Bosco, S Da Cruz… - Journal of …, 2019 - Soc Neuroscience
A fundamental question regarding the etiology of amyotrophic lateral sclerosis (ALS) is
whether the various gene mutations associated with the disease converge on a single …

Repeat-associated non-AUG (RAN) translation mechanisms are running into focus for GGGGCC-repeat associated ALS/FTD

LD Goodman, NM Bonini - Progress in neurobiology, 2019 - Elsevier
Many human diseases are associated with the expansion of repeat sequences within the
genes. It has become clear that expressed disease transcripts bearing such long repeats …