The cytoplasmic dynein transport machinery and its many cargoes

SL Reck-Peterson, WB Redwine, RD Vale… - … reviews Molecular cell …, 2018 - nature.com
Cytoplasmic dynein 1 is an important microtubule-based motor in many eukaryotic cells.
Dynein has critical roles both in interphase and during cell division. Here, we focus on …

The intricate regulation and complex functions of the Class III phosphoinositide 3-kinase Vps34

JM Backer - Biochemical Journal, 2016 - portlandpress.com
The Class III phosphoinositide 3-kinase Vps34 (vacuolar protein sorting 34) plays important
roles in endocytic trafficking, macroautophagy, phagocytosis, cytokinesis and nutrient …

Nanoscale architecture of the axon initial segment reveals an organized and robust scaffold

C Leterrier, J Potier, G Caillol, C Debarnot, FR Boroni… - Cell reports, 2015 - cell.com
The axon initial segment (AIS), located within the first 30 μm of the axon, has two essential
roles in generating action potentials and maintaining axonal identity. AIS assembly depends …

Developmental mechanism of the periodic membrane skeleton in axons

G Zhong, J He, R Zhou, D Lorenzo, HP Babcock… - Elife, 2014 - elifesciences.org
Actin, spectrin, and associated molecules form a periodic sub-membrane lattice structure in
axons. How this membrane skeleton is developed and why it preferentially forms in axons …

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

MA Cousin, BA Creighton, KA Breau, RC Spillmann… - Nature …, 2021 - nature.com
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-
scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin …

Prevalent presence of periodic actin–spectrin-based membrane skeleton in a broad range of neuronal cell types and animal species

J He, R Zhou, Z Wu, MA Carrasco… - Proceedings of the …, 2016 - National Acad Sciences
Actin, spectrin, and associated molecules form a periodic, submembrane cytoskeleton in the
axons of neurons. For a better understanding of this membrane-associated periodic skeleton …

Axonal membranes and their domains: assembly and function of the axon initial segment and node of Ranvier

AD Nelson, PM Jenkins - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Neurons are highly specialized cells of the nervous system that receive, process and
transmit electrical signals critical for normal brain function. Here, we review the intricate …

Spectrins: molecular organizers and targets of neurological disorders

DN Lorenzo, RJ Edwards, AL Slavutsky - Nature Reviews …, 2023 - nature.com
Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian
nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of …

A new hypothesis for Parkinson's disease pathogenesis: GTPase-p38 MAPK signaling and autophagy as convergence points of etiology and genomics

J Obergasteiger, G Frapporti, PP Pramstaller… - Molecular …, 2018 - Springer
The combination of genetics and genomics in Parkinson´ s disease has recently begun to
unveil molecular mechanisms possibly underlying disease onset and progression. In …

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity

R Yang, KK Walder-Christensen… - Proceedings of the …, 2019 - National Acad Sciences
Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of ANK2, a high-
confidence autism spectrum disorder (ASD) gene. We report that a mouse model for human …