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 …

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

W Pang, F Hu - Journal of neurochemistry, 2021 - Wiley Online Library
The hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the main cause of two
tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and …

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

AR Mehta, JM Gregory, O Dando, RN Carter… - Acta …, 2021 - Springer
Axonal dysfunction is a common phenotype in neurodegenerative disorders, including in
amyotrophic lateral sclerosis (ALS), where the key pathological cell-type, the motor neuron …

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 …

Therapeutic potential of polyphenols in amyotrophic lateral sclerosis and frontotemporal dementia

V Novak, B Rogelj, V Župunski - Antioxidants, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are severe
neurodegenerative disorders that belong to a common disease spectrum. The molecular …

Karyopherin abnormalities in neurodegenerative proteinopathies

T Pasha, A Zatorska, D Sharipov, B Rogelj… - Brain, 2021 - academic.oup.com
Neurodegenerative proteinopathies are characterized by progressive cell loss that is
preceded by the mislocalization and aberrant accumulation of proteins prone to …

Multiple pathways of toxicity induced by C9orf72 dipeptide repeat aggregates and G4C2 RNA in a cellular model

F Frottin, M Pérez-Berlanga, FU Hartl, MS Hipp - Elife, 2021 - elifesciences.org
The most frequent genetic cause of amyotrophic lateral sclerosis and frontotemporal
dementia is a G4C2 repeat expansion in the C9orf72 gene. This expansion gives rise to …

Altered Phase Separation and Cellular Impact in C9orf72-Linked ALS/FTD

DA Solomon, R Smikle, MJ Reid… - Frontiers in cellular …, 2021 - frontiersin.org
Since the discovery of the C9orf72 repeat expansion mutation as causative for chromosome
9-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in 2011, a …

The role of nucleocytoplasmic transport defects in amyotrophic lateral sclerosis

J Vanneste, L Van Den Bosch - International Journal of Molecular …, 2021 - mdpi.com
There is ample evidence that nucleocytoplasmic-transport deficits could play an important
role in the pathology of amyotrophic lateral sclerosis (ALS). However, the currently available …

Channel nuclear pore protein 54 directs sexual differentiation and neuronal wiring of female reproductive behaviors in Drosophila

MP Nallasivan, IU Haussmann, A Civetta, M Soller - BMC biology, 2021 - Springer
Background Female reproductive behaviors and physiology change profoundly after mating.
The control of pregnancy-associated changes in physiology and behaviors are largely hard …