Tassone, Flora - University of California, Davis - Department of Biochemistry and Molecular Medicine

研究领域

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. In 2000 she moved to the University of California, Davis and focused her research on neurodevelopmental disorders including Fragile X syndrome and associated disorders, autism spectrum disorders and 22q deletion syndrome. She is a Professor in the Department of Biochemistry and Molecular Medicine, and a MIND Institute investigator at the University of California, Davis, School of Medicine. The main focus of Dr. Tassone’s research is to understand the molecular mechanisms and the correlation with clinical involvements of neurodevelopmental and neurodegenerative disorders. Her expertise is in transcriptional and translational gene regulation, particularly of the fragile X (FMR1) gene. Dr. Tassone has made a number of important observations related to the mechanism of gene expression of the FMR1 gene, especially regarding the effects of premutation alleles on individuals the scientific community thought to be clinically unaffected. Specifically, she investigated the clinical manifestations, FMR1 protein and FMR1 mRNA expression in individuals with fragile X syndrome and with FMR1 associated disorders and made the important discovery of gene dysregulation (increased activity) among premutation carriers. This discovery provided a molecular basis for the forms of clinical involvement among carriers, including fragile X- associated tremor ataxia syndrome (FXTAS). She continues to work on the molecular basis and abnormal molecular phenotype observed in individuals with FXTAS and continues to carry out a significant work on the molecular characterization of full mutation and premutation alleles and the association with a number of clinical features observed in carriers of these mutations. In the past few years, she has been involved in the development of molecular biomarkers predictive of drug efficacy and monitoring disease severity. Dr. Tassone is the director of the Molecular Core of a Fragile X project. Her CLIA certified Laboratory provides the molecular support to a number of projects at the MIND Institute, as well as at the University of California, Davis. Her research also focuses on a number of other neurodevelopmental disorders including Autism Spectrum Disorders and 22q11.2 deletion syndrome. Dr. Tassone has extensive experience in medical genetics and clinical analysis. She has been granted multiple fellowships and training opportunities, as well as research awards from NIH, the National Fragile X Foundation, DOD, HRSA and UC Davis Health for her outstanding contributions to the field. Dr. Tassone is well known in the international Fragile X community; her work has been presented internationally and she has published extensively on the molecular aspect of Fragile X and FXTAS autism and 22q deletion syndrome.

近期论文

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Sellier C, Buijsen RA, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. Neuron. 2017 Jan 4. pii: S0896-6273(16)30958-8. doi: 10.1016/j.neuron.2016.12.016. [Epub ahead of print] PMID: 28065649. Wheeler AC, Sideris J, Hagerman R, Berry-Kravis E, Tassone F, Bailey DB Jr. Developmental profiles of infants with an FMR1 premutation. J Neurodev Disord. 2016 Nov 3;8:40. PMID: 27822316. Giulivi C, Napoli E, Tassone F, Halmai J, Hagerman R. Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation. Biochem J. 2016 Nov 1;473(21):3871-3888. PMID: 27555610 Salcedo-Arellano MJ, Lozano R, Tassone F, Hagerman RJ, Saldarriaga W. Alcohol use dependence in fragile X syndrome. Intractable Rare Dis Res. 2016 Aug;5(3):207-13. doi: 10.5582/irdr.2016.01046. PMID: 27672544; PMCID: PMC4995423 Annesley SJ, Lay ST, De Piazza SW, Sanislav O, Hammersley E, Allan CY, Francione LM, Bui MQ, Chen ZP, Ngoei KR, Tassone F, Kemp BE, Storey E, Evans A, Loesch DZ, Fisher PR. Immortalized Parkinson's Disease lymphocytes have enhanced mitochondrial respiratory activity. Dis Model Mech. 2016 Sep 16. pii: dmm.025684. [Epub ahead of print]. PMID: 27638668 Loesch, DZ, Annesley, SJ, Trost, N, Bui, MQ, Lay, ST, Storey, E, De Piazza, SW, Sanislav, O, Francione, LM, Hammersley, EM, Tassone, F, Francis, D, Fisher, PR. Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. Neuro-degenerative diseases, 17(1): 22-30. PMID: 27602566 Gossett, A, Sansone, S, Schneider, A, Johnston, C, Hagerman, R, Tassone, F, Rivera, SM, Seritan, AL, Hessl, D. Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2016 Sep 12. doi: 10.1002/ajmg.b.32496. [Epub ahead of print]. PMID: 27615674 Giulivi C, Napoli E, Tassone F, Halmai J, Hagerman R. Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers. Front. Mol. Neurosci., 12 August 2016. http://dx.doi.org/10.3389/fnmol.2016.00071 Jiraanont P, Hagerman RJ, Neri G, Zollino M, Murdolo M, Tassone F. Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome. Eur J Med Genet. 2016 Aug 18. pii: S1769-7212(16)30239-7. doi: 10.1016/j.ejmg.2016.08.009. [Epub ahead of print]. PMID: 27546052 Saldarriaga W, Ruiz FA, Tassone F, Hagerman RJ. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report. JARID. 26 JUL 2016. DOI: 10.1111/jar.12272 Song G, Napoli E, Wong S, Hagerman R, Liu S, Tassone F, Giulivi C. Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine. Mol Med. 2016 Jun 30;22. doi: 10.2119/molmed.2016.00122. [Epub ahead of print] PMID: 27385396 Schneider A, Johnston C, Tassone F, Sansone S, Hagerman RJ, Ferrer E, Rivera SM, Hessl D. Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation. Clin Neuropsychol. 2016 Jun 29:1-15. [Epub ahead of print] PMID: 27355445 Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA. Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 Jul 2. [Epub ahead of print] PMID: 27372099 Napoli E, Song G, Schneider A, Hagerman R, Eldeeb MA, Azarang A, Tassone F, Giulivi C. Warburg effect linked to cognitive-executive deficits in FMR1 premutation. FASEB J. 2016 Jun 22. pii: fj.201600315R. [Epub ahead of print] PMID: 27335370 Lozano R, Saito N, Reed D, Eldeeb M, Schneider A, Hessl D, Tassone F, Beckett L, Hagerman R. Aging in Fragile X Premutation Carriers. Cerebellum. 2016 Jun 22. [Epub ahead of print] PMID: 27334385 Tabet R, Moutin E, Becker JA, Heintz D, Fouillen L, Flatter E, Krężel W, Alunni V, Koebel P, Dembélé D, Tassone F, Bardoni B, Mandel JL, Vitale N, Muller D, Le Merrer J, Moine H. Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons. Proc Natl Acad Sci U S A. 2016 May 27. Napoli E, Ross-Inta C, Song G, Wong S, Hagerman R, Gane LW, Smilowitz JT, Tassone F, Giulivi C. Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perital Brain Bioenergetics and Scaffolding. Front Neurosci. 2016 Apr 19; 10:159. PMCID: PMC4835505 Wong S, Napoli E, Krakowiak P, Tassone F, Hertz-Picciotto I, Giulivi C. Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study. Pediatrics. 2016 Mar 31. pii: e20151888. [Epub ahead of print] PMID: 27033107 Saldarriaga W, Lein P, González Teshima LY, Isaza C, Rosa L, Polyak A, Hagerman R, Girirajan S, Silva M, Tassone F. Phenobarbital use and neurological problems in FMR1 premutation carriers. Neurotoxicology. 2016 Mar; 53:141-7. doi: 10.1016/j.neuro.2016.01.008. Epub 2016 Jan 21. PMID: 26802682; PMCID: PMC4808401 Gonçalves TF, Santos JM, Gonçalves AP, Tassone F, Mendoza-Morales G, Ribeiro MG, Kahn E, Boy R, Gonçalves Pimentel MM, Santos-Rebouças CB. Finding FMR1 mosaicism in Fragile X syndrome. Expert Rev Mol Diagn. 2015 Dec 30. [Epub ahead of print] PMID: 26716517 Famula J, Basuta K, Gane LW, Hagerman RJ, Tassone F. Identification of a male with fragile X syndrome through newborn screening. Intractable & Rare Diseases Research. 2015;4(4):198-202. doi:10.5582/irdr.2015.01031. PMID: 26668780; PMCID: PMC4660861 Brick DJ, Nethercott HE, Montesano S, Banuelos MG, Stover AE, Schutte SS, O'Dowd DK, Hagerman RJ, Ono M, Hessl DR, Tassone F, Schwartz PH. The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery. Stem Cells Transl Med. 2015 Nov;4(11):1369. doi: 10.5966/sctm.2014-0073erratum. No abstract available. PMID: 26508786; PMCID: PMC4622400 Tassone F. Advanced technologies for the molecular diagnosis of fragile X syndrome. Expert Rev Mol Diagn. 2015 Oct 21:1-9. [Epub ahead of print] PMID: 26489042 Cordeiro L, Abucayan F, Hagerman R, Tassone F, Hessl D. Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. Intractable Rare Dis Res. 2015 Aug;4(3):123-30. doi: 10.5582/irdr.2015.01029. PMID: 26361563; PMCID: PMC4561241 Napoli, E, Tassone, F, Wong, S, Angkustsiri, K, Simon, TJ, Song, G, Giulivi, C. Mitochondrial Citrate Transporter-Dependent Metabolic Signature in the 22q11.2 Deletion Syndrome. J Biol Chem. 2015 Jul 28. pii: jbc.M115.672360. [Epub ahead of print]