The Pathology Core goal will continue to serve as a resource for the investigators interested in neurogenetics research. The resources include a tissue bank and providing neuropathological expertise in the analysis of murine and human normal and lesional tissue associated with Neurofibromatosis 2 (NF2), Schwannomatosis and Tuberous Sclerosis (TSC). To accomplish this goal the core will: 1) Coordinate the collection of frozen lesional tissues and cell culture from patients with inherited nervous system tumor syndromes and from corresponding solitary, sporadic tumors from the general population, as well as collect corresponding fresh and paraffin-embedded fixed tissues from normal controls (autopsy tissues). 2) Maintain a separate database of tissues, cell lines and, DNA for these projects, which can be linked to other databases (clinical database, mutation analysis database, RNA database). 3) Provide immunohistochemical expertise in the study of cellular and subcellular localization of merlin, tuberin, hamartin and their interacting proteins and analyze the expression of novel proteins (identified by CGH and microRNA studies), phosphorylated proteins and neurotransmitter receptors in murine models, in the normal human brain and in TSC or NF-associated lesions 4) Provide histological and immunohistochemical expertise in the classification and analysis of lesions associated with NF2, Schwannomatosis and TSC and their sporadic counterparts. 5) Provide histological and immunohistochemical expertise in the classification and analysis of newly generated lesions in Nf2 and Tsc murine models and evaluate the delivery and effects of experimental gene therapy in these lesions. The core will ensure optimal and uniform processing of all tissues and cell cultures to be used by the investigators of the various projects. In addition, the histological review of all tissues (murine and human) will ensure uniform and standardized classification, which are essential for meaningful comparison and interpretation of the data. The core will continue its work, in collaboration with the various projects, of elucidating the pathogenesis and altered protein expression in TSC-associated lesions in humans and in the Tsc murine models and in defining the molecular, clinical and histological characteristics of NF-associated lesions in humans and murine models. Finally, the delivery and effect of gene therapy on lesions in Tsc and Nf2 mouse models will be assessed.
| Jordan, Justin T; Smith, Miriam J; Walker, James A et al. (2018) Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore) 97:e9717 |
| Prabhakar, Shilpa; Zhang, Xuan; Goto, June et al. (2015) Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis 82:22-31 |
| Geffrey, Alexandra L; Shinnick, Julianna E; Staley, Brigid A et al. (2014) Lymphedema in tuberous sclerosis complex. Am J Med Genet A 164A:1438-42 |
| Boronat, Susana; Shaaya, Elias A; Auladell, Maria et al. (2014) Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol 29:912-9 |
| Di Nardo, Alessia; Wertz, Mary H; Kwiatkowski, Erica et al. (2014) Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet 23:3865-74 |
| Shaaya, Elias A; Hirshberg, Jacqueline S; Rabe, Olivia T et al. (2013) Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A 161A:1662-5 |
| Boronat, Susana; Van Eeghen, Agnies M; Shinnick, Julianna E et al. (2013) Stressor-related disorders in tuberous sclerosis. Ann Clin Psychiatry 25:243-9 |
| van Eeghen, Agnies M; Terán, Laura Ortiz; Johnson, Jason et al. (2013) The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines. Neuroradiology 55:1007-1014 |
| Prabhakar, Shilpa; Taherian, Mehran; Gianni, Davide et al. (2013) Regression of schwannomas induced by adeno-associated virus-mediated delivery of caspase-1. Hum Gene Ther 24:152-62 |
| Hsieh, David T; Jennesson, Melanie M; Thiele, Elizabeth A (2013) Epileptic spasms in tuberous sclerosis complex. Epilepsy Res 106:200-10 |
Showing the most recent 10 out of 261 publications
