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 …
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
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 …
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …
Genome-wide analyses identify KIF5A as a novel ALS gene
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 …
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
Axonal transport and neurological disease
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 …
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 …
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 …
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 …
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 …
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
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 …
relies on the efficient cargo transport along the axon. Axonal transport defects have been …