ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation

P Tziortzouda, L Van Den Bosch, F Hirth - Nature Reviews …, 2021 - nature.com
Cytoplasmic aggregation of TAR DNA-binding protein 43 (TDP43; also known as TARDBP
or TDP-43) is a key pathological feature of several neurodegenerative diseases, including …

RNA splicing and disease: animal models to therapies

M Montes, BL Sanford, DF Comiskey, DS Chandler - Trends in Genetics, 2019 - cell.com
Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

The interface of condensates of the hnRNPA1 low-complexity domain promotes formation of amyloid fibrils

M Linsenmeier, L Faltova, C Morelli… - Nature …, 2023 - nature.com
The maturation of liquid-like protein condensates into amyloid fibrils has been associated
with several neurodegenerative diseases. However, the molecular mechanisms underlying …

Motor neuron susceptibility in ALS/FTD

AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …

[HTML][HTML] RNA dysregulation in amyotrophic lateral sclerosis

Z Butti, SA Patten - Frontiers in genetics, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease
and is characterized by the degeneration of upper and lower motor neurons. It has become …

Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease

NB Nedelsky, JP Taylor - Nature Reviews Neurology, 2019 - nature.com
Biomolecular condensation arising through phase transitions has emerged as an essential
organizational strategy that governs many aspects of cell biology. In particular, the role of …

A comprehensive analysis of the role of hnRNP A1 function and dysfunction in the pathogenesis of neurodegenerative disease

JP Clarke, PA Thibault, HE Salapa… - Frontiers in molecular …, 2021 - frontiersin.org
Heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is a member of the hnRNP family
of conserved proteins that is involved in RNA transcription, pre-mRNA splicing, mRNA …

The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis

A Bampton, LM Gittings, P Fratta, T Lashley… - Acta Neuropathologica, 2020 - Springer
Dysregulated RNA metabolism is emerging as a crucially important mechanism
underpinning the pathogenesis of frontotemporal dementia (FTD) and the clinically …

The role of TDP-43 in neurodegenerative disease

YZ Liao, J Ma, JZ Dou - Molecular neurobiology, 2022 - Springer
In recent years, more and more neurodegenerative diseases, such as ALS, FTLD and AD,
have been found to share a common pathological feature, which is the depletion of TDP-43 …