[HTML][HTML] The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

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 buffers the phase separation behavior of prion-like RNA binding proteins

S Maharana, J Wang, DK Papadopoulos, D Richter… - Science, 2018 - science.org
Prion-like RNA binding proteins (RBPs) such as TDP43 and FUS are largely soluble in the
nucleus but form solid pathological aggregates when mislocalized to the cytoplasm. What …

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

K Zhang, CJ Donnelly, AR Haeusler, JC Grima… - Nature, 2015 - nature.com
The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most
common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …

[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

[HTML][HTML] Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations

NH Alami, RB Smith, MA Carrasco, LA Williams… - Neuron, 2014 - cell.com
The RNA-binding protein TDP-43 regulates RNA metabolism at multiple levels, including
transcription, RNA splicing, and mRNA stability. TDP-43 is a major component of the …

Drosophila as an In Vivo Model for Human Neurodegenerative Disease

L McGurk, A Berson, NM Bonini - Genetics, 2015 - academic.oup.com
With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

[HTML][HTML] TDP-43 proteinopathy and ALS: insights into disease mechanisms and therapeutic targets

EL Scotter, HJ Chen, CE Shaw - Neurotherapeutics, 2015 - Elsevier
Therapeutic options for patients with amyotrophic lateral sclerosis (ALS) are currently
limited. However, recent studies show that almost all cases of ALS, as well as tau-negative …

[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 …

[HTML][HTML] TDP-43 depletion in microglia promotes amyloid clearance but also induces synapse loss

RC Paolicelli, A Jawaid, CM Henstridge, A Valeri… - Neuron, 2017 - cell.com
Microglia coordinate various functions in the central nervous system ranging from removing
synaptic connections, to maintaining brain homeostasis by monitoring neuronal function …