Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Caleb P Bupp

19PUBLICATIONS
126CO-AUTHORS
Neurology and neuromuscular diseasesAgricultural molecular engineering of nucleic acids and proteinsGene and molecular therapyMedical biotechnology diagnostics (incl. biosensors)Neonatology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (19)

Sort by Publication Date:
|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Jul 25, 2025
Methyl-CpG-binding domain as a protein interaction partner in promoter regulation and neurodevelopment through evolutionary expanded entanglement.

Stephanie M Bilinovich, Surya B Chhetri, Jackson T Mitchell

|Apr 01, 2025
Repurposing With Purpose: Treatment of Bachmann-Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies.

Caleb P Bupp, Elizabeth A VanSickle, Julianne Michael

|Jul 10, 2024
Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan.

Lacey N Lemke, Caleb P Bupp, Karen L Niemchick

|Jul 20, 2023
Bachmann-Bupp syndrome and treatment.

André S Bachmann, Elizabeth A VanSickle, Julianne Michael

|Jul 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade

Pageof 4

Frequent Collaborators

3 joint publications

André S Bachmann

3 joint publications

Jeremy W Prokop

2 joint publications

Nils Brose

2 joint publications

Rami Abou Jamra

2 joint publications

Anita Rauch

2 joint publications

Fowzan S Alkuraya

2 joint publications

Naomichi Matsumoto

2 joint publications

Holger Taschenberger

2 joint publications

Heinrich Sticht

2 joint publications

Konrad Platzer

Frequent Collaborators

3 joint publications

André S Bachmann

3 joint publications

Jeremy W Prokop

2 joint publications

Nils Brose

2 joint publications

Rami Abou Jamra

Top Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on : Oct 17, 2025

452
Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
10:16

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions

Published on : Jun 28, 2018

32.7K
<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on : Dec 20, 2017

8.0K
See more related videos

Top Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on : Oct 17, 2025

452
Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
10:16

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions

Published on : Jun 28, 2018

32.7K
<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on : Dec 20, 2017

8.0K
See more related videos