The Pathology Core goal will continue to serve as a resource for the investigators interested inneurogenetics research. The resources include a tissue bank and providing neuropathological expertise inthe 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 nervoussystem tumor syndromes and from corresponding solitary, sporadic tumors from the general population, aswell as collect corresponding fresh and paraffin-embedded fixed tissues from normal controls (autopsytissues). 2) Maintain a separate database of tissues, cell lines and, DNA for these projects, which can belinked to other databases (clinical database, mutation analysis database, RNA database). 3) Provideimmunohistochemical 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 andmicroRNA studies), phosphorylated proteins and neurotransmitter receptors in murine models, in the normalhuman brain and in TSC or NF-associated lesions 4) Provide histological and immunohistochemicalexpertise in the classification and analysis of lesions associated with NF2, Schwannomatosis and TSC andtheir sporadic counterparts. 5) Provide histological and immunohistochemical expertise in the classificationand analysis of newly generated lesions in Nf2 and Tsc murine models and evaluate the delivery and effectsof experimental gene therapy in these lesions.The core will ensure optimal and uniform processing of all tissues and cell cultures to be used by theinvestigators of the various projects. In addition, the histological review of all tissues (murine and human) willensure uniform and standardized classification, which are essential for meaningful comparison andinterpretation of the data. The core will continue its work, in collaboration with the various projects, ofelucidating the pathogenesis and altered protein expression in TSC-associated lesions in humans and in theTsc murine models and in defining the molecular, clinical and histological characteristics of NF-associatedlesions in humans and murine models. Finally, the delivery and effect of gene therapy on lesions in Tsc andNf2 mouse models will be assessed.
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| 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 |
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| 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 |
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