Emerging trends in the field of inflammation and proteinopathy in ALS/FTD spectrum disorder

F De Marchi, T Franjkic, P Schito, T Russo, J Nimac… - Biomedicines, 2023 - mdpi.com
Proteinopathy and neuroinflammation are two main hallmarks of neurodegenerative
diseases. They also represent rare common events in an exceptionally broad landscape of …

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 …

SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis

V Baskerville, S Rapuri, E Mehlhop, AN Coyne - Brain, 2024 - academic.oup.com
We have recently identified the aberrant nuclear accumulation of the ESCRT-III protein
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …

Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy

B Khalil, D Chhangani, MC Wren, CL Smith… - Molecular …, 2022 - Springer
Background Cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43
(TDP-43) is a hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia …

G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons

JD Rothstein, V Baskerville, S Rapuri, E Mehlhop… - Acta …, 2024 - Springer
The G4C2 repeat expansion in the C9orf72 gene is the most common genetic cause of
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Many studies suggest that …

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 …

SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration

TR Fortuna, S Kour, AV Chimata, A Muiños-Bühl… - Acta …, 2023 - Springer
GEMIN5 is essential for core assembly of small nuclear Ribonucleoproteins (snRNPs), the
building blocks of spliceosome formation. Loss-of-function mutations in GEMIN5 lead to a …

Time-dependent material properties of aging biomolecular condensates from different viscoelasticity measurements in molecular dynamics simulations

AR Tejedor, R Collepardo-Guevara… - The Journal of …, 2023 - ACS Publications
Biomolecular condensates are important contributors to the internal organization of the cell
material. While initially described as liquid-like droplets, the term biomolecular condensates …

Nucleoporin foci are stress‐sensitive condensates dispensable for C. elegans nuclear pore assembly

L Thomas, B Taleb Ismail, P Askjaer… - The EMBO Journal, 2023 - embopress.org
Nucleoporins (Nups) assemble nuclear pores that form the permeability barrier between
nucleoplasm and cytoplasm. Nucleoporins also localize in cytoplasmic foci proposed to …

Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS

P McGoldrick, J Robertson - Frontiers in Cellular Neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two adult-onset
neurodegenerative diseases that are part of a common disease spectrum due to clinical …