Tyrone DeSpenza Jr, MD, PhD
About
Research
Publications
2025
Autonomic modulation of the immune response and implications for CNS malignancies
Wachsmuth L, Srinivasan E, Puviindran B, Haskell-Mendoza A, DeSpenza T, Fecci P. Autonomic modulation of the immune response and implications for CNS malignancies. Npj Precision Oncology 2025, 9: 168. PMID: 40483275, PMCID: PMC12145445, DOI: 10.1038/s41698-025-00957-y.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsClinical phenotypes among patients with familial forms of Chiari malformation type 1.
Mekbib K, Muñoz W, Allington G, Zhao S, Mehta N, Fortes C, Shohfi J, Fan B, Nelson-Williams C, DeSpenza T, Butler W, Alper S, Jackson E, Kahle K. Clinical phenotypes among patients with familial forms of Chiari malformation type 1. Journal Of Neurosurgery Pediatrics 2025, 36: 109-118. PMID: 40315599, PMCID: PMC12558010, DOI: 10.3171/2025.1.peds24187.Peer-Reviewed Original ResearchPTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
DeSpenza T, Kiziltug E, Allington G, Barson D, McGee S, O’Connor D, Robert S, Mekbib K, Nanda P, Greenberg A, Singh A, Duy P, Mandino F, Zhao S, Lynn A, Reeves B, Marlier A, Getz S, Nelson-Williams C, Shimelis H, Walsh L, Zhang J, Wang W, Prina M, OuYang A, Abdulkareem A, Smith H, Shohfi J, Mehta N, Dennis E, Reduron L, Hong J, Butler W, Carter B, Deniz E, Lake E, Constable R, Sahin M, Srivastava S, Winden K, Hoffman E, Carlson M, Gunel M, Lifton R, Alper S, Jin S, Crair M, Moreno-De-Luca A, Luikart B, Kahle K. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature Neuroscience 2025, 28: 536-557. PMID: 39994410, PMCID: PMC12038823, DOI: 10.1038/s41593-024-01865-3.Peer-Reviewed Original Research
2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original Research
2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Singh A, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib K, Shohfi J, Duy P, DeSpenza T, Furey C, Reeves B, Smith H, Sousa A, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi S, Alper S, Sestan N, Shimelis H, Walsh L, Lifton R, Moreno-De-Luca A, Jin S, Kruszka P, Deniz E, Kahle K. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. Brain 2023, 147: 1553-1570. PMID: 38128548, PMCID: PMC10994532, DOI: 10.1093/brain/awad405.Peer-Reviewed Original ResearchMutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, Smith H, Shohfi J, Ocken J, Duran D, Furey C, Hao L, Duy P, Reeves B, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu P, Wang Y, Mane S, Piwowarczyk P, Fehnel K, See A, Iskandar B, Aagaard-Kienitz B, Moyer Q, Dennis E, Kiziltug E, Kundishora A, DeSpenza T, Greenberg A, Kidanemariam S, Hale A, Johnston J, Jackson E, Storm P, Lang S, Butler W, Carter B, Chapman P, Stapleton C, Patel A, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay E, Zhao H, Moreno-De-Luca A, Proctor M, Smith E, Orbach D, Alper S, Nicoli S, Boggon T, Lifton R, Gunel M, King P, Jin S, Kahle K. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications 2023, 14: 7452. PMID: 37978175, PMCID: PMC10656524, DOI: 10.1038/s41467-023-43062-z.Peer-Reviewed Original ResearchHuman genetics and molecular genomics of Chiari malformation type 1
Mekbib K, Muñoz W, Allington G, McGee S, Mehta N, Shofi J, Fortes C, Le H, Nelson-Williams C, Nanda P, Dennis E, Kundishora A, Khanna A, Smith H, Ocken J, Greenberg A, Wu R, Moreno-De-Luca A, DeSpenza T, Zhao S, Marlier A, Jin S, Alper S, Butler W, Kahle K. Human genetics and molecular genomics of Chiari malformation type 1. Trends In Molecular Medicine 2023, 29: 1059-1075. PMID: 37802664, DOI: 10.1016/j.molmed.2023.08.013.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsThe choroid plexus links innate immunity to CSF dysregulation in hydrocephalus
Robert S, Reeves B, Kiziltug E, Duy P, Karimy J, Mansuri M, Marlier A, Allington G, Greenberg A, DeSpenza T, Singh A, Zeng X, Mekbib K, Kundishora A, Nelson-Williams C, Hao L, Zhang J, Lam T, Wilson R, Butler W, Diluna M, Feinberg P, Schafer D, Movahedi K, Tannenbaum A, Koundal S, Chen X, Benveniste H, Limbrick D, Schiff S, Carter B, Gunel M, Simard J, Lifton R, Alper S, Delpire E, Kahle K. The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus. Cell 2023, 186: 764-785.e21. PMID: 36803604, PMCID: PMC10069664, DOI: 10.1016/j.cell.2023.01.017.Peer-Reviewed Original Research
2021
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets
DeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements