New preprint from our lab at NIH! #KIF1A has been known for decades, but its role in axonal lysosomal vesicle transport was unclear. We show it is essential—and reveal a selective gate controlling which lysosomal vesicles enter mature axons.
www.biorxiv.org/content/10.6...
#Neuroscience
www.biorxiv.org/content/10.6...
#Neuroscience
October 31, 2026 at 12:18 PM
New preprint from our lab at NIH! #KIF1A has been known for decades, but its role in axonal lysosomal vesicle transport was unclear. We show it is essential—and reveal a selective gate controlling which lysosomal vesicles enter mature axons.
www.biorxiv.org/content/10.6...
#Neuroscience
www.biorxiv.org/content/10.6...
#Neuroscience
The hereditary spastic paraplegia–associated KIF1A-T258M variant bypasses this gate, increasing degradative lysosome entry. In human neurons, KIF1A loss disrupts lysosomal transport and axonal integrity. Disease may involve cargo misrouting as well as transport failure.
October 31, 2026 at 12:18 PM
The hereditary spastic paraplegia–associated KIF1A-T258M variant bypasses this gate, increasing degradative lysosome entry. In human neurons, KIF1A loss disrupts lysosomal transport and axonal integrity. Disease may involve cargo misrouting as well as transport failure.
KIF1A-driven entry of degradative lysosomes into the axon is developmentally regulated by the microtubule environment at the axon initial segment https://www.biorxiv.org/content/10.64898/2026.10.29.762862v1
October 30, 2026 at 4:30 PM
KIF1A-driven entry of degradative lysosomes into the axon is developmentally regulated by the microtubule environment at the axon initial segment https://www.biorxiv.org/content/10.64898/2026.10.29.762862v1
As neurons mature, microtubules at the axon initial segment restrict KIF1A-driven entry of degradative lysosomes while allowing less degradative vesicles through. Disrupting this environment lifts the restriction: the tracks help determine which cargo enters the axon.
October 31, 2026 at 12:18 PM
As neurons mature, microtubules at the axon initial segment restrict KIF1A-driven entry of degradative lysosomes while allowing less degradative vesicles through. Disrupting this environment lifts the restriction: the tracks help determine which cargo enters the axon.
🧬 KIF1A-associated neurological disorder (KAND) spans a broad spectrum of neurological features, yet no curative treatment is currently available.
📢 This review explores the underlying disease mechanisms and emerging strategies for targeted therapies.
🔗 Read more: www.nature.com/articles/s41...
📢 This review explores the underlying disease mechanisms and emerging strategies for targeted therapies.
🔗 Read more: www.nature.com/articles/s41...
KIF1A-associated neurological disorders: therapeutic opportunities and challenges - European Journal of Human Genetics
European Journal of Human Genetics - KIF1A-associated neurological disorders: therapeutic opportunities and challenges
www.nature.com
October 29, 2026 at 1:33 PM
🧬 KIF1A-associated neurological disorder (KAND) spans a broad spectrum of neurological features, yet no curative treatment is currently available.
📢 This review explores the underlying disease mechanisms and emerging strategies for targeted therapies.
🔗 Read more: www.nature.com/articles/s41...
📢 This review explores the underlying disease mechanisms and emerging strategies for targeted therapies.
🔗 Read more: www.nature.com/articles/s41...
KIF1A-driven entry of degradative lysosomes into the axon is developmentally regulated by the microtubule environment at the axon initial segment https://www.biorxiv.org/content/10.64898/2026.10.29.762862v1
October 30, 2026 at 4:30 PM
KIF1A-driven entry of degradative lysosomes into the axon is developmentally regulated by the microtubule environment at the axon initial segment https://www.biorxiv.org/content/10.64898/2026.10.29.762862v1
Different variants, different cellular outcomes: Balanced #KIF1A activity shapes synapse development. Shinsuke Niwa (Hokkaido University) discusses work from @aikenlab.bsky.social @erikaholzbaur.bsky.social et al. (rupress.org/jcb/article/...) in Spotlight: rupress.org/jcb/article/...
#Neuroscience
#Neuroscience
October 20, 2026 at 1:45 PM
Different variants, different cellular outcomes: Balanced #KIF1A activity shapes synapse development. Shinsuke Niwa (Hokkaido University) discusses work from @aikenlab.bsky.social @erikaholzbaur.bsky.social et al. (rupress.org/jcb/article/...) in Spotlight: rupress.org/jcb/article/...
#Neuroscience
#Neuroscience
Spotlight @jcb.org: @aikenlab.bsky.social @erikaholzbaur.bsky.social et al. (rupress.org/jcb/article/...) describe how different pathogenic #KIF1A variants affect synapse development. Shinsuke Niwa highlights the study: rupress.org/jcb/article/...
#Neuroscience
#Neuroscience
October 13, 2026 at 4:00 PM
Spotlight @jcb.org: @aikenlab.bsky.social @erikaholzbaur.bsky.social et al. (rupress.org/jcb/article/...) describe how different pathogenic #KIF1A variants affect synapse development. Shinsuke Niwa highlights the study: rupress.org/jcb/article/...
#Neuroscience
#Neuroscience
Spotlight: @aikenlab.bsky.social @erikaholzbaur.bsky.social et al. (rupress.org/jcb/article/...) describe how different pathogenic #KIF1A variants affect synapse development. Shinsuke Niwa highlights the study: rupress.org/jcb/article/...
#Neuroscience
#Neuroscience
October 13, 2026 at 4:01 PM
Spotlight: @aikenlab.bsky.social @erikaholzbaur.bsky.social et al. (rupress.org/jcb/article/...) describe how different pathogenic #KIF1A variants affect synapse development. Shinsuke Niwa highlights the study: rupress.org/jcb/article/...
#Neuroscience
#Neuroscience
RRIDs were included in this in Journal of Cell Biology paper. Thanks for making your methods matter! #BetterScience #STMpublishing #ReproducibleResearch
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
Read the full paper: Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
doi.org
October 13, 2026 at 7:00 AM
RRIDs were included in this in Journal of Cell Biology paper. Thanks for making your methods matter! #BetterScience #STMpublishing #ReproducibleResearch
We love seeing our alumni make an impact. 🧬
Biochemistry alumna Abhipsa Shatarupa is first/co-first author on three recent publications advancing research in DNA replication and KIF1A-associated neurological disease.
#StructuralBiology #CryoEM
Links to all three publications are in the comments:
Biochemistry alumna Abhipsa Shatarupa is first/co-first author on three recent publications advancing research in DNA replication and KIF1A-associated neurological disease.
#StructuralBiology #CryoEM
Links to all three publications are in the comments:
October 8, 2026 at 8:56 PM
We love seeing our alumni make an impact. 🧬
Biochemistry alumna Abhipsa Shatarupa is first/co-first author on three recent publications advancing research in DNA replication and KIF1A-associated neurological disease.
#StructuralBiology #CryoEM
Links to all three publications are in the comments:
Biochemistry alumna Abhipsa Shatarupa is first/co-first author on three recent publications advancing research in DNA replication and KIF1A-associated neurological disease.
#StructuralBiology #CryoEM
Links to all three publications are in the comments:
The authors included RRIDs in their paper! Thanks for making your methods matter! #accelerateopenscience #OpenScience #BetterScience
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
Read the full paper: Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
doi.org
October 8, 2026 at 7:06 AM
The authors included RRIDs in their paper! Thanks for making your methods matter! #accelerateopenscience #OpenScience #BetterScience
Netrin-1 is a key neuronal guidance cue. Find out how it travels within human neurons in this new #openaccess #research #article in #CYTOSKELETON. KIF1A-Mediated Axonal Transport of Netrin-1 in iPSC-Derived Human Forebrain Neurons. onlinelibrary.wiley.com/doi/full/10....
September 28, 2026 at 2:50 AM
Netrin-1 is a key neuronal guidance cue. Find out how it travels within human neurons in this new #openaccess #research #article in #CYTOSKELETON. KIF1A-Mediated Axonal Transport of Netrin-1 in iPSC-Derived Human Forebrain Neurons. onlinelibrary.wiley.com/doi/full/10....
Integrating Single-Molecule Variant Phenotyping with Clinical Features Predicts Outcomes in KIF1A-Associated Neurological Disorder https://www.medrxiv.org/content/10.64898/2026.09.10.26362467v1
September 17, 2026 at 4:25 AM
Integrating Single-Molecule Variant Phenotyping with Clinical Features Predicts Outcomes in KIF1A-Associated Neurological Disorder https://www.medrxiv.org/content/10.64898/2026.09.10.26362467v1
Pathogenic #KIF1A variants differentially disrupt axonal trafficking and impede synaptic development. New study from Jayne Aiken @aikenlab.bsky.social, Erika Holzbaur @erikaholzbaur.bsky.social and colleagues @upenn.edu:
rupress.org/jcb/article/...
#Cytoskeleton #Disease #Neuroscience #Trafficking
rupress.org/jcb/article/...
#Cytoskeleton #Disease #Neuroscience #Trafficking
September 15, 2026 at 3:03 PM
Pathogenic #KIF1A variants differentially disrupt axonal trafficking and impede synaptic development. New study from Jayne Aiken @aikenlab.bsky.social, Erika Holzbaur @erikaholzbaur.bsky.social and colleagues @upenn.edu:
rupress.org/jcb/article/...
#Cytoskeleton #Disease #Neuroscience #Trafficking
rupress.org/jcb/article/...
#Cytoskeleton #Disease #Neuroscience #Trafficking
Using iPSC-derived human #neurons gene-edited to express pathogenic #KIF1A variants, @aikenlab.bsky.social, @erikaholzbaur.bsky.social et al. demonstrate that distinct alterations in KIF1A motor function disrupt synaptic development through divergent cellular mechanisms rupress.org/jcb/article/...
September 8, 2026 at 4:01 PM
Using iPSC-derived human #neurons gene-edited to express pathogenic #KIF1A variants, @aikenlab.bsky.social, @erikaholzbaur.bsky.social et al. demonstrate that distinct alterations in KIF1A motor function disrupt synaptic development through divergent cellular mechanisms rupress.org/jcb/article/...
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development rupress.org/jcb/article-...
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
Using iPSC-derived human neurons gene-edited to express pathogenic KIF1A variants, Aiken et al. demonstrate that distinct alterations in KIF1A motor functi
rupress.org
September 8, 2026 at 1:06 PM
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development rupress.org/jcb/article-...
rupress.org/jcb/article-...
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
September 8, 2026 at 1:36 PM
rupress.org/jcb/article-...
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
In @jcb.org: Using iPSC-derived human #neurons gene-edited to express pathogenic #KIF1A variants, @aikenlab.bsky.social et al. demonstrate that distinct alterations in KIF1A motor function disrupt synaptic development through divergent cellular mechanisms. rupress.org/jcb/article/...
September 8, 2026 at 4:00 PM
In @jcb.org: Using iPSC-derived human #neurons gene-edited to express pathogenic #KIF1A variants, @aikenlab.bsky.social et al. demonstrate that distinct alterations in KIF1A motor function disrupt synaptic development through divergent cellular mechanisms. rupress.org/jcb/article/...
Hsu et al. in the Liu Lab at the Broad Institute present OptiPrime, a machine learning model that predicts prime editing outcomes with state-of-the-art accuracy, enabling efficient in vivo correction of a pathogenic mutation in a mouse model of KIF1A-associated neurological disorder.
Nature Biotechnology
www.nature.com
August 14, 2026 at 6:22 PM
Hsu et al. in the Liu Lab at the Broad Institute present OptiPrime, a machine learning model that predicts prime editing outcomes with state-of-the-art accuracy, enabling efficient in vivo correction of a pathogenic mutation in a mouse model of KIF1A-associated neurological disorder.
RRIDs were included in this paper. Thanks for making your methods matter! #OpenScience #methodsmatter #accelerateopenscience
KIF1A-mediated trafficking is required for neuronal autophagy in human neurons
Read the full paper: KIF1A-mediated trafficking is required for neuronal autophagy in human neurons
doi.org
August 9, 2026 at 7:04 AM
RRIDs were included in this paper. Thanks for making your methods matter! #OpenScience #methodsmatter #accelerateopenscience
Ultrastructural analyses further revealed marked changes in synaptic architecture and dendritic morphology following modulation of this pathway.
CONCLUSIONS: CM activates an SP1-TET1 epigenetic regulatory module that demethylates and activates the Kif1a promoter, thereby linking (🧵 8/9)
CONCLUSIONS: CM activates an SP1-TET1 epigenetic regulatory module that demethylates and activates the Kif1a promoter, thereby linking (🧵 8/9)
February 22, 2026 at 10:42 AM
Ultrastructural analyses further revealed marked changes in synaptic architecture and dendritic morphology following modulation of this pathway.
CONCLUSIONS: CM activates an SP1-TET1 epigenetic regulatory module that demethylates and activates the Kif1a promoter, thereby linking (🧵 8/9)
CONCLUSIONS: CM activates an SP1-TET1 epigenetic regulatory module that demethylates and activates the Kif1a promoter, thereby linking (🧵 8/9)
vitro partially mitigated the effects of SP1 inhibition. Notably, KIF1A overexpression both in vitro and in vivo reversed the synaptic impairments induced by SP1 inhibition. (🧵 7/9)
February 22, 2026 at 10:42 AM
vitro partially mitigated the effects of SP1 inhibition. Notably, KIF1A overexpression both in vitro and in vivo reversed the synaptic impairments induced by SP1 inhibition. (🧵 7/9)