Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Liquid-liquid phase separation in biology: mechanisms, physiological functions and human diseases

H Zhang, X Ji, P Li, C Liu, J Lou, Z Wang… - Science China Life …, 2020 - Springer
Cells are compartmentalized by numerous membrane-enclosed organelles and
membraneless compartments to ensure that a wide variety of cellular activities occur in a …

Heat-shock chaperone HSPB1 regulates cytoplasmic TDP-43 phase separation and liquid-to-gel transition

S Lu, J Hu, OA Arogundade, A Goginashvili… - Nature cell …, 2022 - nature.com
While acetylated, RNA-binding-deficient TDP-43 reversibly phase separates within nuclei
into complex droplets (anisosomes) comprised of TDP-43-containing liquid outer shells and …

Single-cell transcriptomic landscape of the developing human spinal cord

J Andersen, N Thom, JL Shadrach, X Chen… - Nature …, 2023 - nature.com
Understanding spinal cord assembly is essential to elucidate how motor behavior is
controlled and how disorders arise. The human spinal cord is exquisitely organized, and this …

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll… - Neuron, 2022 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …

Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients

AJ Bloom, X Mao, A Strickland, Y Sasaki… - Molecular …, 2022 - Springer
Background In response to injury, neurons activate a program of organized axon self-
destruction initiated by the NAD+ hydrolase, SARM1. In healthy neurons SARM1 is …

Hsp40 proteins phase separate to chaperone the assembly and maintenance of membraneless organelles

J Gu, Z Liu, S Zhang, Y Li, W Xia… - Proceedings of the …, 2020 - National Acad Sciences
Membraneless organelles contain a wide spectrum of molecular chaperones, indicating
their important roles in modulating the metastable conformation and biological function of …

TDP-43 pathology: from noxious assembly to therapeutic removal

SS Keating, R San Gil, MEV Swanson, EL Scotter… - Progress in …, 2022 - Elsevier
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …

Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …