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 …

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 …

iRegulon: from a gene list to a gene regulatory network using large motif and track collections

R Janky, A Verfaillie, H Imrichová… - PLoS computational …, 2014 - journals.plos.org
Identifying master regulators of biological processes and mapping their downstream gene
networks are key challenges in systems biology. We developed a computational method …

[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 …

Modelling amyotrophic lateral sclerosis: progress and possibilities

P Van Damme, W Robberecht… - Disease models & …, 2017 - journals.biologists.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the
motor system and presents with progressive muscle weakness. Most patients survive for …

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 …

TDP‐43 loss of function increases TFEB activity and blocks autophagosome–lysosome fusion

Q Xia, H Wang, Z Hao, C Fu, Q Hu, F Gao, H Ren… - The EMBO …, 2016 - embopress.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is
characterized by selective loss of motor neurons in brain and spinal cord. TAR DNA‐binding …

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

C Yang, H Wang, T Qiao, B Yang… - Proceedings of the …, 2014 - National Acad Sciences
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease that causes motor neuron
degeneration, progressive motor dysfunction, paralysis, and death. Although multiple …

RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS

H Spence, FM Waldron, RS Saleeb, AL Brown… - Acta …, 2024 - Springer
TDP-43 is an aggregation-prone protein which accumulates in the hallmark pathological
inclusions of amyotrophic lateral sclerosis (ALS). However, the analysis of deeply …

Importance of functional loss of FUS in FTLD/ALS

S Ishigaki, G Sobue - Frontiers in molecular biosciences, 2018 - frontiersin.org
Fused in sarcoma (FUS) is an RNA binding protein that regulates RNA metabolism including
alternative splicing, transcription, and RNA transportation. FUS is genetically and …