[HTML][HTML] Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD

C Fallini, B Khalil, CL Smith, W Rossoll - Neurobiology of disease, 2020 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal late-onset neurodegenerative disease that
specifically affects the function and survival of spinal and cortical motor neurons. ALS shares …

Emerging perspectives on dipeptide repeat proteins in C9ORF72 ALS/FTD

A Schmitz, J Pinheiro Marques, I Oertig… - Frontiers in cellular …, 2021 - frontiersin.org
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a hexanucleotide expansion in the chromosome 9 open reading frame 72 …

Nucleocytoplasmic transport defects in neurodegeneration—Cause or consequence?

S Hutten, D Dormann - Seminars in cell & developmental biology, 2020 - Elsevier
Defects in nucleocytoplasmic transport have been associated with several
neurodegenerative disorders and, in particular, the formation of pathological protein …

[HTML][HTML] Chimeric peptide species contribute to divergent dipeptide repeat pathology in c9ALS/FTD and SCA36

ZT McEachin, TF Gendron, N Raj, M García-Murias… - Neuron, 2020 - cell.com
GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) and lead to the production of …

The role of DNA damage response in amyotrophic lateral sclerosis

Y Sun, AJ Curle, AM Haider, G Balmus - Essays in Biochemistry, 2020 - portlandpress.com
Amyotrophic lateral sclerosis (ALS) is a rapidly disabling and fatal neurodegenerative
disease. Due to insufficient disease-modifying treatments, there is an unmet and urgent …

Nucleoporins are degraded via upregulation of ESCRT-III/Vps4 complex in Drosophila models of C9-ALS/FTD

SK Dubey, K Maulding, H Sung, TE Lloyd - Cell reports, 2022 - cell.com
Disruption of the nuclear pore complex (NPC) and nucleocytoplasmic transport (NCT) have
been implicated in the pathogenesis of neurodegenerative diseases. A GGGGCC …

Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD

B Khalil, M Linsenmeier, CL Smith, J Shorter… - Molecular …, 2024 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal
neurodegenerative disorders on a disease spectrum that are characterized by the …

Nucleo–cytoplasmic transport defects and protein aggregates in neurodegeneration

G Bitetto, A Di Fonzo - Translational neurodegeneration, 2020 - Springer
In the ongoing process of uncovering molecular abnormalities in neurodegenerative
diseases characterized by toxic protein aggregates, nucleo-cytoplasmic transport defects …

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 …

Nuclear pore complex and nucleocytoplasmic transport disruption in neurodegeneration

AC Cristi, S Rapuri, AN Coyne - FEBS letters, 2023 - Wiley Online Library
Nuclear pore complexes (NPCs) play a critical role in maintaining the equilibrium between
the nucleus and cytoplasm, enabling bidirectional transport across the nuclear envelope …