Author

Juliane Bombosch

Stanford Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Neuroscience· 3

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Approach:experimental assay· 3 Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Organism:mouse· 2 Approach:statistical model· 2

Frequent Co-Authors

Aaron D. GitleriD· 3 shared Yi ZengiD· 3 shared Caiwei GuoiD· 2 shared Luke Zhao· 2 shared Odilia Sianto· 2 shared Olivia GautieriD· 2 shared Tetsuya AkiyamaiD· 2 shared Arwa Kathira· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersNeuroscience

Aaron D. GitlerORCID

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Author profile →

3 papers

Recent·Most cited

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction

Caiwei Guo, Kuchuan Chen, Sarat C. Vatsavayai, Tetsuya Akiyama, Chang Liu, Yi Zeng, Odilia Sianto, Edith Yang, Juliane Bombosch, Rasheen Powell, Shannon Zhen, Shila Mekhoubad, Ryan D. Morrie, Georgiana Miller, Dragana Ilic, , Aaron D. Gitler

This study identifies TDP-43-dependent cryptic splicing events in synaptic and membrane excitability genes and shows they drive neuronal dysfunction in ALS and FTD.

Science Translational Medicine · Jun 3, 2026Peer-reviewedNeuroscience

KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS

Tetsuya Akiyama, Yi Zeng, Caiwei Guo, Olivia Gautier, Lauren S. Koepke, Heankel Lyons, Elana Molotsky, Juliane Bombosch, Odilia Sianto, Jay P. Ross, Phuong T. Hoang, Luke Zhao, Cole Spencer, Charlotte J. Sumner, Michelle Monje, , Aaron D. Gitler

This study shows that SMN deficiency reduces KIF5A in SMA, impairing axon regeneration, and links SMA and ALS through KIF5A stabilization by SMN.

JCI Insight · Mar 26, 2026Peer-reviewedNeuroscience

An emergent disease-associated motor neuron state precedes cell death in a mouse model of ALS

Olivia Gautier, Jacob A. Blum, Thao P. Nguyen, Sandy L. Klemm, Mai Yamakawa, Nasa Sinnott-Armstrong, Yi Zeng, Chung-ha O. Davis, Juliane Bombosch, Lisa Nakayama, Kevin A. Guttenplan, Derek C. Chen, Arwa Kathira, Luke Zhao, Jessica E. Rexach, , Aaron D. Gitler

The paper identifies a disease-associated motor neuron state in a mouse ALS model that precedes cell death and links it to human ALS genetic risk factors.

bioRxiv · Aug 21, 2025 · PreprintNeuroscience