Get started
Award

Regulation of PMP22 Expression in Peripheral Nerve

Description: PUBLIC HEALTH RELEVANCE: One of the most common inherited diseases affecting the nervous system is Charcot-Marie- Tooth disease, affecting approximately 1 in 3000 individuals. The most common cause of this disease is a duplication of the PMP22 gene (resulting in CMT1A). This proposal is designed to elucidate the mechanism of PMP22 regulation to enable identification of mechanistic targets of potential therapies for CMT1A.
Funding type: research
Funder scheme: R01
Start date: 2014-06-15
End date: 2020-05-31
Investigator: JOHN P SVAREN
Institution: UNIVERSITY OF WISCONSIN-MADISON
Funded outputs count: 12
Funder award ID: R01NS083841
OpenAlex ID: G8317043609
Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex
2020 · V. Lupo, S. Won, et al. · European Journal of Neurology · 7
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves
2020 · Harrison Pantera, Bo Hu, et al. · Human Molecular Genetics · 11
Regulating PMP22 expression as a dosage sensitive neuropathy gene
2019 · Harrison Pantera, Michael E. Shy, et al. · Brain Research · 36
Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer
2018 · Harrison Pantera, John J Moran, et al. · Human Molecular Genetics · 29
PDF
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
2017 · Hien Tran Zhao, Sagar Damle, et al. · Journal of Clinical Investigation · 163
Dual specificity phosphatase 15 regulates Erk activation in Schwann cells
2016 · José F. Rodríguez‐Molina, Camila Lopez‐Anido, et al. · Journal of Neurochemistry · 15
Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation
2016 · Chetna Gopinath, William D. Law, et al. · BMC Genomics · 14
PDF
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locusMTMR2
2016 · Elizabeth A. Fogarty, Megan H. Brewer, et al. · Human Molecular Genetics · 5
Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development
2016 · Camila Lopez-Anido, Yannick Poitelon, et al. · Human Molecular Genetics · 53
YAP and TAZ control peripheral myelination and the expression of laminin receptors in Schwann cells
2016 · Yannick Poitelon, Camila Lopez-Anido, et al. · Nature Neuroscience · 193
A Genome Editing Approach to Studying Pmp22 Enhancer Functionality
2016 · Harrison Pantera, John Moran, et al. · The FASEB Journal
Genome Editing-Enabled HTS Assays Expand Drug Target Pathways for Charcot–Marie–Tooth Disease
2014 · James Inglese, Patricia Dranchak, et al. · ACS Chemical Biology · 33
Year
Topic