Amyotrophic lateral sclerosis: a clinical review

P Masrori, P Van Damme - European journal of neurology, 2020 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …

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) …

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 …

Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

Axonal transport and neurological disease

JN Sleigh, AM Rossor, AD Fellows… - Nature Reviews …, 2019 - nature.com
Axonal transport is the process whereby motor proteins actively navigate microtubules to
deliver diverse cargoes, such as organelles, from one end of the axon to the other, and is …

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 …

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

SH Berth, TE Lloyd - 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 …

ALS-and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy

O Harding, CS Evans, J Ye, J Cheung… - Proceedings of the …, 2021 - National Acad Sciences
TANK-binding kinase 1 (TBK1) is a multifunctional kinase with an essential role in
mitophagy, the selective clearance of damaged mitochondria. More than 90 distinct …

The role of sex and sex hormones in neurodegenerative diseases

E Vegeto, A Villa, S Della Torre, V Crippa… - Endocrine …, 2020 - academic.oup.com
Neurodegenerative diseases (NDs) are a wide class of disorders of the central nervous
system (CNS) with unknown etiology. Several factors were hypothesized to be involved in …

[HTML][HTML] Axonal transport defects and neurodegeneration: molecular mechanisms and therapeutic implications

W Guo, KS Dittlau, L Van Den Bosch - Seminars in cell & developmental …, 2020 - Elsevier
Because of the extremely polarized morphology, the proper functioning of neurons largely
relies on the efficient cargo transport along the axon. Axonal transport defects have been …