Flora Tassone | Author | SciTechnol | Journal of Genetic Disorde

Flora Tassone Author

916-703-0463

Subjects of specialization
,Reproductive Biology,,,Vision Science,Cancer Biology

Affiliation
Department of Biochemistry and Molecular Medicine and MIND Institute, University of California, Davis 2805 50th

Biography

Dr. Flora Tassone received her B.S. degree in biology from the University of Rome ?La Sapienza? and her PhD in Molecular Biology from the Catholic University of Rome, Italy, in 1992, for her studies on Down Syndrome. During the postdoctoral fellowship, first at the Eleanor Roosevelt Institute in Denver, Colorado, and then at University of Colorado Health Science Center she continued to work on the identification of genes involved in Down Syndrome and started to focus her attention on the molecular basis leading to Fragile X syndrome and autism spectrum disorders.

Publications

Research Article Open Access

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis

Author(s):

Carolyn M Yrigollen, Laura Pacini, Veronica Nobile, Reymundo Lozano, Randi J Hagerman, Claudia Bagni and Flora Tassone

Objective: Fragile X syndrome (FXS) and tuberous sclerosis (TSC) are genetic disorders that result in intellectual disability and an increased prevalence of autism spectrum disorders (ASD). While the clinical presentation of each disorder is distinct, the molecular causes are linked to a disruption in the mTORC1 (mammalian Target of Rapamycin Complex 1) and ERK1/2 (Extracellular signal- Regulated Kinase) signaling pathways.

Methods: We assessed the clinical and molecular characteristics of an individual seen at the UC Davis MIND Institute with a diagnosis of FXS and TSC. Clinical evaluation of physical, behavioral, and cognitive impairments were performed. Additionally, total and phosphorylated proteins along the mTORC1 and ERK1/2 pathways were ... view more»

DOI: 10.4172/2327-5790.1000139

Abstract HTML PDF