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 …

[HTML][HTML] 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 …

[HTML][HTML] Modeling C9orf72-Related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis in Drosophila

JL Sharpe, NS Harper, DR Garner… - Frontiers in cellular …, 2021 - frontiersin.org
An intronic hexanucleotide (GGGGCC) expansion in the C9orf72 gene is the most common
genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In …

[HTML][HTML] Advances in the structure of GGGGCC repeat RNA sequence and its interaction with small molecules and protein partners

X Liu, X Zhao, J He, S Wang, X Shen, Q Liu, S Wang - Molecules, 2023 - mdpi.com
The aberrant expansion of GGGGCC hexanucleotide repeats within the first intron of the
C9orf72 gene represent the predominant genetic etiology underlying amyotrophic lateral …

The prion-like nature of amyotrophic lateral sclerosis

L McAlary, JJ Yerbury, NR Cashman - Progress in Molecular Biology and …, 2020 - Elsevier
The misfolding, aggregation, and deposition of specific proteins is the key hallmark of most
progressive neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease …

Exploring the alternative: fish, flies and worms as preclinical models for ALS

E Braems, P Tziortzouda, L Van Den Bosch - Neuroscience Letters, 2021 - Elsevier
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder
characterized by the loss of upper and lower motor neurons. In general, patients succumb to …

[HTML][HTML] Measuring and interpreting nuclear transport in neurodegenerative disease—The example of C9orf72 ALS

MFW Semmelink, A Steen, LM Veenhoff - International Journal of …, 2021 - mdpi.com
Transport from and into the nucleus is essential to all eukaryotic life and occurs through the
nuclear pore complex (NPC). There are a multitude of data supporting a role for nuclear …

Presynaptic accumulation of α-synuclein causes synaptopathy and progressive neurodegeneration in Drosophila

JC Bridi, E Bereczki, SK Smith, GM Poças… - Brain …, 2021 - academic.oup.com
Abstract Alpha-synuclein (α-syn) mislocalization and accumulation in intracellular inclusions
is the major pathological hallmark of degenerative synucleinopathies, including Parkinson's …

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 …

[HTML][HTML] Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD

K Mayl, CE Shaw, YB Lee - Biomedicines, 2021 - mdpi.com
A hexanucleotide repeat expansion mutation in the first intron of C9orf72 is the most
common known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia …