Hallmarks of neurodegenerative diseases

DM Wilson, MR Cookson, L Van Den Bosch… - Cell, 2023 - cell.com
Decades of research have identified genetic factors and biochemical pathways involved in
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …

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) …

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

MW Baughn, Z Melamed, J López-Erauskin… - Science, 2023 - science.org
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

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 …

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 …

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 …

The genetic regulation of protein expression in cerebrospinal fluid

O Hansson, A Kumar, S Janelidze… - EMBO Molecular …, 2023 - embopress.org
Studies of the genetic regulation of cerebrospinal fluid (CSF) proteins may reveal pathways
for treatment of neurological diseases. 398 proteins in CSF were measured in 1,591 …