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) …

[HTML][HTML] Disruption of axonal transport in neurodegeneration

SH Berth, TE Lloyd - The Journal of Clinical Investigation, 2023 - Am Soc Clin Investig
Neurons are markedly compartmentalized, which makes them reliant on axonal transport to
maintain their health. Axonal transport is important for anterograde delivery of newly …

[HTML][HTML] Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects

MJ Workman, RG Lim, J Wu, A Frank, L Ornelas… - Neuron, 2023 - cell.com
Using induced pluripotent stem cells (iPSCs) to understand the mechanisms of neurological
disease holds great promise; however, there is a lack of well-curated lines from a large array …

[HTML][HTML] Beyond PI3Ks: targeting phosphoinositide kinases in disease

JE Burke, J Triscott, BM Emerling… - Nature Reviews Drug …, 2023 - nature.com
Lipid phosphoinositides are master regulators of almost all aspects of a cell's life and death
and are generated by the tightly regulated activity of phosphoinositide kinases. Although …

PIKFYVE inhibition mitigates disease in models of diverse forms of ALS

ST Hung, GR Linares, WH Chang, Y Eoh, G Krishnan… - Cell, 2023 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results from
many diverse genetic causes. Although therapeutics specifically targeting known causal …

[HTML][HTML] Current state and future directions in the therapy of ALS

L Tzeplaeff, S Wilfling, MV Requardt, M Herdick - Cells, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder
affecting upper and lower motor neurons, with death resulting mainly from respiratory failure …

[HTML][HTML] C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

BF Vahsen, S Nalluru, GR Morgan, L Farrimond… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by
progressive motor neuron loss, with additional pathophysiological involvement of non …

PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases

I Barlow-Busch, AL Shaw, JE Burke - Current Opinion in Cell Biology, 2023 - Elsevier
Lipid phosphoinositides are master regulators of multiple cellular functions. Misregulation of
the activity of the lipid kinases that generate phosphoinositides is causative of human …

Lysosomes in senescence and aging

JX Tan, T Finkel - EMBO reports, 2023 - embopress.org
Dysfunction of lysosomes, the primary hydrolytic organelles in animal cells, is frequently
associated with aging and age‐related diseases. At the cellular level, lysosomal dysfunction …

[HTML][HTML] iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons

A Held, M Adler, C Marques, CJ Reyes, AS Kavuturu… - Cell reports, 2023 - cell.com
Motor neuron degeneration, the defining feature of amyotrophic lateral sclerosis (ALS), is a
primary example of cell-type specificity in neurodegenerative diseases. Using isogenic pairs …