Axonal transport: cargo-specific mechanisms of motility and regulation

S Maday, AE Twelvetrees, AJ Moughamian… - Neuron, 2014 - cell.com
Axonal transport is essential for neuronal function, and many neurodevelopmental and
neurodegenerative diseases result from mutations in the axonal transport machinery …

Microtubule assembly, organization and dynamics in axons and dendrites

C Conde, A Cáceres - Nature Reviews Neuroscience, 2009 - nature.com
During the past decade enormous advances have been made in our understanding of the
basic molecular machinery that is involved in the development of neuronal polarity. Far from …

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek… - Neuron, 2015 - cell.com
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

P Pasinelli, RH Brown - Nature Reviews Neuroscience, 2006 - nature.com
Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron
degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron …

[HTML][HTML] Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases

F Martinon, J Tschopp - Cell, 2004 - cell.com
Caspases not only play an essential role during apoptotic cell death, but a subfamily of them—
the inflammatory caspases—are associated with immune responses to microbial pathogens …

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 …

AAA+ superfamily ATPases: common structure–diverse function

T Ogura, AJ Wilkinson - Genes to Cells, 2001 - Wiley Online Library
The AAA+ superfamily of ATPases, which contain a homologous ATPase module, are found
in all kingdoms of living organisms where they participate in diverse cellular processes …

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

SC **, SA Lewis, S Bakhtiari, X Zeng, MC Sierant… - Nature …, 2020 - nature.com
In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

Lipid droplet contact sites in health and disease

E Herker, G Vieyres, M Beller, N Krahmer… - Trends in Cell Biology, 2021 - cell.com
After having been disregarded for a long time as inert fat drops, lipid droplets (LDs) are now
recognized as ubiquitous cellular organelles with key functions in lipid biology and beyond …

The tubulin code

KJ Verhey, J Gaertig - Cell cycle, 2007 - Taylor & Francis
Microtubules create diverse arrays with specific cellular functions such as the mitotic spindle,
cilia, and bundles inside neurons. How microtubules are regulated to enable specific …