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: 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) …

MINFLUX dissects the unimpeded walking of kinesin-1

JO Wirth, L Scheiderer, T Engelhardt, J Engelhardt… - Science, 2023 - science.org
We introduce an interferometric MINFLUX microscope that records protein movements with
up to 1.7 nanometer per millisecond spatiotemporal precision. Such precision has …

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 …

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 …

Mechanisms and functions of lysosome positioning

J Pu, CM Guardia, T Keren-Kaplan… - Journal of cell …, 2016 - journals.biologists.com
Lysosomes have been classically considered terminal degradative organelles, but in recent
years they have been found to participate in many other cellular processes, including killing …

[HTML][HTML] Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease

N Hirokawa, S Niwa, Y Tanaka - Neuron, 2010 - cell.com
The kinesin, dynein, and myosin superfamily molecular motors have fundamental roles in
neuronal function, plasticity, morphogenesis, and survival by transporting cargos such as …

N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force

C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

CH Wu, C Fallini, N Ticozzi, PJ Keagle, PC Sapp… - Nature, 2012 - nature.com
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting
from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a …