Axonal transport: Driving synaptic function

P Guedes-Dias, ELF Holzbaur - Science, 2019 - science.org
BACKGROUND Neurons are polarized cells with extreme geometries. Multiple dendrites
and one axon generally emerge from a single cell body and establish synaptic contacts with …

Anterograde axonal transport in neuronal homeostasis and disease

L Guillaud, SE El-Agamy, M Otsuki… - Frontiers in molecular …, 2020 - frontiersin.org
Neurons are highly polarized cells with an elongated axon that extends far away from the
cell body. To maintain their homeostasis, neurons rely extensively on axonal transport of …

Advances in the evaluation and management of cortical/cerebral visual impairment in children

MY Chang, MS Borchert - Survey of ophthalmology, 2020 - Elsevier
Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual
impairment in developed countries and is increasing in prevalence in developing nations …

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

M Pennings, MI Schouten, J van Gaalen… - European Journal of …, 2020 - nature.com
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30,
autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant …

Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors

K Chiba, H Takahashi, M Chen… - Proceedings of the …, 2019 - National Acad Sciences
KIF1A is a kinesin family motor involved in the axonal transport of synaptic vesicle
precursors (SVPs) along microtubules (MTs). In humans, more than 10 point mutations in …

Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder

K Chiba, T Kita, Y Anazawa… - Journal of Cell …, 2023 - journals.biologists.com
Neuronal function depends on axonal transport by kinesin superfamily proteins (KIFs).
KIF1A is the molecular motor that transports synaptic vesicle precursors, synaptic vesicles …

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

L Boyle, L Rao, S Kaur, X Fan, C Mebane… - Human Genetics and …, 2021 - cell.com
KIF1A-associated neurological disorder (KAND) encompasses a group of rare
neurodegenerative conditions caused by variants in KIF1A, a gene that encodes an …

[HTML][HTML] Synaptic vesicle precursors and lysosomes are transported by different mechanisms in the axon of mammalian neurons

R De Pace, DJ Britt, J Mercurio, AM Foster… - Cell reports, 2020 - cell.com
BORC is a multisubunit complex previously shown to promote coupling of mammalian
lysosomes and C. elegans synaptic vesicle (SV) precursors (SVPs) to kinesins for …

De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors

Y Anazawa, T Kita, R Iguchi… - Proceedings of the …, 2022 - National Acad Sciences
KIF1A is a kinesin superfamily motor protein that transports synaptic vesicle precursors in
axons. Cargo binding stimulates the dimerization of KIF1A molecules to induce processive …

KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

T Nemani, D Steel, M Kaliakatsos… - Journal of the …, 2020 - Wiley Online Library
Abstract KIF1A‐related disorders (KRD) were first described in 2011 and the phenotypic
spectrum has subsequently expanded to encompass a range of central and peripheral …