Research
Molecular pathogenesis of human CNS disease, including dementia, parenchymal substrates of epilepsy, and stroke/cerebrovascular disease
Appointments
- Chief, Neuropathology
- Professor, Neurology
- Pathology and Laboratory Medicine
- Autopsy
- Surgical Pathology
- Member, ACCESS Program: Dept. of Cellular & Molecular Pathology
- Brain Research Institute
- Faculty, Cellular and Molecular Pathology PhD Program
Biography
Vinters work on pediatric epilepsy continues to focus on characterizing expression (with brain and viscera) of genes associated with known familial syndromes of cortical malformation. Emphasis has been placed on the study of two genes which are frequently mutated to yield the (epilepsy-associated) condition tuberous sclerosis, i.e. TSC1 on chromosome 9q34 (protein product hamartin) and TSC2 on chromosome 16p13.3 (protein product tuberin).
Vinters lab is also studying subcellular localization, translocation and molecular mechanisms of action of tuberin/hamartin using tissue culture models.
Publications
- Sanjuan-Ruiz, I, Serneels, L, Craessaerts, K, Goate, A, Annaert, W, Chávez-Gutiérrez, L et al.. The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease. Mol Neurodegener Adv. 2025;1 (1):4. doi: 10.1186/s44477-025-00004-x. PubMed PMID:41127441 PubMed Central PMC12537781.
- Sanjuan Ruiz, I, Serneels, L, Craessaerts, K, Goate, A, Annaert, W, Chavez Gutierrez, L et al.. The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease. Res Sq. 2025; :. doi: 10.21203/rs.3.rs-7222993/v1. PubMed PMID:40909785 PubMed Central PMC12408025.
- Rajabli, F, Benchek, P, Tosto, G, Kushch, N, Sha, J, Bazemore, K et al.. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease. Genome Biol. 2025;26 (1):210. doi: 10.1186/s13059-025-03564-z. PubMed PMID:40676597 PubMed Central PMC12273372.
- Tian, M, Kawaguchi, R, Shen, Y, Machnicki, M, Villegas, NG, Cooper, DR et al.. Deconstructing the intercellular interactome in vascular dementia with focal ischemia for therapeutic applications. Cell. 2025;188 (19):5157-5174.e20. doi: 10.1016/j.cell.2025.06.002. PubMed PMID:40592323 PubMed Central PMC12221338.
- Zhang, D, Tsai, K, Santana, C, Javaherian, K, Lee, M, Bergsneider, M et al.. Genetic profiling of synchronous pituitary corticotroph adenomas. Pituitary. 2025;28 (4):77. doi: 10.1007/s11102-025-01549-6. PubMed PMID:40544420 PubMed Central PMC12183135.