Flora Tassone

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc The role of AGG interruptions in the transcription of FMR1 premutation alleles
    Carolyn M Yrigollen
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, California, United States of America
    PLoS ONE 6:e21728. 2011
  2. pmc Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed
    Ling M Wong
    MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California, Davis, 2825 50th Street, Sacramento, CA, 95817, USA
    J Neurodev Disord 4:26. 2012
  3. pmc Intranuclear inclusions in a fragile X mosaic male
    Dalyir I Pretto
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California at Davis, One Shields Avenue, Davis, CA, USA
    Transl Neurodegener 2:10. 2013
  4. ncbi request reprint Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 2700 Stockton Blvd, Suite 2102, Sacramento, CA 95817, USA
    J Autism Dev Disord 43:530-9. 2013
  5. doi request reprint Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
    F Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, USA
    Genes Brain Behav 11:577-85. 2012
  6. pmc Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
    Claudia M Greco
    MIND Institute, University of California Davis Medical Center, Sacramento, CA, USA
    Mol Autism 2:2. 2011
  7. pmc A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, California 95616, USA
    J Mol Diagn 10:43-9. 2008
  8. pmc Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA 95616, USA
    RNA 13:555-62. 2007
  9. ncbi request reprint Expression of the FMR1 gene
    F Tassone
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis CA, USA
    Cytogenet Genome Res 100:124-8. 2003
  10. pmc Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, CA, USA
    Nucleic Acids Res 39:6172-85. 2011

Collaborators

Detail Information

Publications120 found, 100 shown here

  1. pmc The role of AGG interruptions in the transcription of FMR1 premutation alleles
    Carolyn M Yrigollen
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, California, United States of America
    PLoS ONE 6:e21728. 2011
    ..Importantly, we did not observe any significant difference in FMR1 mRNA levels in premutation carriers based on age...
  2. pmc Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed
    Ling M Wong
    MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California, Davis, 2825 50th Street, Sacramento, CA, 95817, USA
    J Neurodev Disord 4:26. 2012
    ..abstract:..
  3. pmc Intranuclear inclusions in a fragile X mosaic male
    Dalyir I Pretto
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California at Davis, One Shields Avenue, Davis, CA, USA
    Transl Neurodegener 2:10. 2013
    ..In addition, based on symptoms and pathological and molecular evidence, this report suggests the need to redefine the diagnostic criteria of FXTAS...
  4. ncbi request reprint Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 2700 Stockton Blvd, Suite 2102, Sacramento, CA 95817, USA
    J Autism Dev Disord 43:530-9. 2013
    ..We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD...
  5. doi request reprint Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
    F Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, USA
    Genes Brain Behav 11:577-85. 2012
    ..Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur...
  6. pmc Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
    Claudia M Greco
    MIND Institute, University of California Davis Medical Center, Sacramento, CA, USA
    Mol Autism 2:2. 2011
    ..abstract:..
  7. pmc A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, California 95616, USA
    J Mol Diagn 10:43-9. 2008
    ..The test described herein costs less than $5 per sample for materials; with suitable scale-up and automation, the cost should approach $1 per sample...
  8. pmc Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA 95616, USA
    RNA 13:555-62. 2007
    ..Finally, we have demonstrated that AGG interruptions within the CGG repeat element do not influence FMR1 mRNA levels...
  9. ncbi request reprint Expression of the FMR1 gene
    F Tassone
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis CA, USA
    Cytogenet Genome Res 100:124-8. 2003
    ..These results demonstrate that lowered FMRP levels, in the absence of methylation-coupled silencing of the FMR1 gene, are not caused by reduced transcriptional activity, but rather by a reduced efficiency of translation...
  10. pmc Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, CA, USA
    Nucleic Acids Res 39:6172-85. 2011
    ..Importantly, in both human and mouse, a specific regulation of the UTRs is observed in brain of FMR1 premutation alleles, suggesting that the transcript variants may play a role in premutation-related pathologies...
  11. pmc MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California 95616, USA
    Autism Res 4:250-61. 2011
    ..19, 7.91, P = 0.02 for AU vs. TD, and OR = 3.26, 95% CI = 1.35, 7.89, P = 0.009 for AU+ASD vs. TD). These results suggest a potential role of the functional MAOA promoter alleles in the male child, the mother, or both in ASD...
  12. ncbi request reprint CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California 95616, USA
    Am J Med Genet B Neuropsychiatr Genet 144:566-9. 2007
    ..001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS...
  13. doi request reprint The fragile X-associated tremor ataxia syndrome
    Flora Tassone
    University of California, Sacramento, CA, USA
    Results Probl Cell Differ 54:337-57. 2012
    ..Finally, the presence of cellular dysregulation in older adults who do not present clinical features of FXTAS may suggest that additional genetic or environmental protective factors may play a role in the pathogenesis of FXTAS...
  14. pmc A review of fragile X premutation disorders: expanding the psychiatric perspective
    James A Bourgeois
    Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA 95817, USA
    J Clin Psychiatry 70:852-62. 2009
    ..Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders...
  15. pmc CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS
    Gry Hoem
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 20:2161-70. 2011
    ....
  16. ncbi request reprint Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia
    Susan Bacalman
    M I N D Institute, and Departments of Psychiatry and Behavioral Sciences, UCDavis Medical Center, University of California Davis, 2230 Stockton Boulevard, Sacramento, CA 95817, USA
    J Clin Psychiatry 67:87-94. 2006
    ..The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with the fragile X mental retardation 1 (FMR1) premutation allele who have developed fragile X-associated tremor/ataxia syndrome (FXTAS)...
  17. ncbi request reprint Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine
    James A Bourgeois
    Department of Psychiatry and Behavioral Sciences, University of California, Davis, Medical Center, 2230 Stockton Blvd, Sacramento, 95817, USA
    J Neuropsychiatry Clin Neurosci 18:171-7. 2006
    ..Psychiatrists are hereby alerted to the description of a novel dementia syndrome that may respond to pharmacological intervention commonly used for other dementias...
  18. ncbi request reprint Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
    Sebastien Jacquemont
    MIND Institute, University of California Davis Medical Center, Sacramento, USA
    JAMA 291:460-9. 2004
    ..Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction...
  19. ncbi request reprint Investigation of amygdala volume in men with the fragile X premutation
    Diana Selmeczy
    Center for Mind and Brain, University of California, 202 Cousteau Place, Suite 250, Davis, CA 95618, USA
    Brain Imaging Behav 5:285-94. 2011
    ..However, a significant negative correlation between amygdala volume and CGG was found in the lower range of CGG repeat expansions, but not in the higher range of CGG repeat expansions...
  20. ncbi request reprint Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
    James A Bourgeois
    Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California Davis, Sacramento, CA 95817, USA
    Gen Hosp Psychiatry 29:349-56. 2007
    ..We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene...
  21. ncbi request reprint Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial
    Andreea L Seritan
    2230 Stockton Blvd, Sacramento, CA 95817
    J Clin Psychiatry 75:264-71. 2014
    ....
  22. pmc Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers
    Naomi J Goodrich-Hunsaker
    NeuroTherapeutics Research Institute, University of California Davis Medical Center, Sacramento, CA, USA
    J Int Neuropsychol Soc 17:746-50. 2011
    ....
  23. doi request reprint Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
    Alyssa A Hamlin
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 158:1304-9. 2012
    ..Thus, evaluation of hypertension in patients diagnosed with FXTAS should be a routine part of the treatment monitoring and intervention for this disease...
  24. pmc Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis, Medical Center, Sacramento, California 95817, USA
    Biol Psychiatry 70:859-65. 2011
    ....
  25. pmc Autism profiles of males with fragile X syndrome
    Susan W Harris
    M I N D Institute and Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA 95817, USA
    Am J Ment Retard 113:427-38. 2008
    ....
  26. ncbi request reprint Screen for excess FMR1 premutation alleles among males with parkinsonism
    Jeremy Kraff
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA 95616, USA
    Arch Neurol 64:1002-6. 2007
    ..Parkinson disease populations may thus include individuals who harbor premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene...
  27. pmc Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders
    Michael R Hunsaker
    NeuroTherapeutics Research Institute and Department of Neurological Surgery, University of California, Davis School of Medicine, USA
    J Neuropathol Exp Neurol 70:462-9. 2011
    ..The small numbers of inclusions and very low levels of both FMR1 RNA and protein suggest that the clinical course in these 3 subjects would not have been influenced by contributions from RNA toxicity...
  28. pmc Abnormal nerve conduction features in fragile X premutation carriers
    Kultida Soontarapornchai
    M I N D Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
    Arch Neurol 65:495-8. 2008
    ..Distal neuropathy is part of the clinical phenotype in most males with the fragile X-associated tremor/ataxia syndrome (FXTAS) caused by the 55 to 200 CGG repeat expansion...
  29. doi request reprint AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
    Carolyn M Yrigollen
    Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, California, USA
    Genet Med 14:729-36. 2012
    ..The presence of AGG interruptions within the CGG repeat tract is thought to decrease the likelihood of expansion to a full mutation during transmission, thereby reducing risk, although their contribution has not been quantified...
  30. ncbi request reprint Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
    Weerasak Chonchaiya
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis Health System, Sacramento, CA 95817, USA
    Hum Genet 131:581-9. 2012
    ..Therefore, boys with the premutation, particularly if they are probands should be assessed carefully for both ASD and seizures...
  31. pmc Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments
    Naomi J Goodrich-Hunsaker
    NeuroTherapeutics Research Institute, University of California, Davis Medical Center, CA, USA
    Brain Cogn 75:255-60. 2011
    ..Results from the present study may potentially be applied toward the design of early interventions wherein we might be able to target premutation carriers most at risk for degeneration for preventive treatment...
  32. pmc Expanded clinical phenotype of women with the FMR1 premutation
    Sarah M Coffey
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:1009-16. 2008
    ..The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS...
  33. ncbi request reprint Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles
    Jun Yi Wang
    Center for Mind and Brain, University of California, Davis, USA
    JAMA Neurol 70:1022-9. 2013
    ..Because the core feature of FXTAS is motor impairment, determining the influence of FMR1 mRNA levels on structural connectivity of motor fiber tracts is critical for a better understanding of the pathologic features of FXTAS...
  34. ncbi request reprint Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    James A Brunberg
    Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    AJNR Am J Neuroradiol 23:1757-66. 2002
    ..Our purpose was to characterize the findings of MR imaging of the brain of adult male fragile X premutation carriers with a recently identified disorder characterized by ataxia, tremor, rigidity, and cognitive dysfunction...
  35. pmc Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model
    Eitan S Kaplan
    Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
    J Neurochem 123:613-21. 2012
    ....
  36. doi request reprint Immune-mediated disorders among women carriers of fragile X premutation alleles
    Tri Indah Winarni
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Health System, Sacramento, USA
    Am J Med Genet A 158:2473-81. 2012
    ..4 times higher when compared to carriers without FXPOI (95% CI 1.1-5.0; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1-5.0; P = 0.021) compared to that of controls...
  37. pmc Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice
    Michael R Hunsaker
    Department of Neurological Surgery, University of California, Davis, Davis, CA, USA
    Acta Neuropathol 122:467-79. 2011
    ....
  38. pmc Neural progenitor cells from an adult patient with fragile X syndrome
    Philip H Schwartz
    National Human Neural Stem Cell Resource, Children s Hospital of Orange County Research Institute, Orange, CA, USA
    BMC Med Genet 6:2. 2005
    ..In this study, we sought to establish the use of immature neural cells derived from adult tissues as a novel model of fragile X syndrome that could be used to more fully understand the pathology of this neurogenetic disease...
  39. pmc Fibroblast phenotype in male carriers of FMR1 premutation alleles
    Dolores Garcia-Arocena
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 19:299-312. 2010
    ..Fibroblast studies may also prove useful in screening and testing the efficacy of therapeutic interventions...
  40. pmc Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion
    Zhengyu Cao
    Department of Molecular Biosciences, School of Veterinary Medicine, University ofCalifornia, Davis, California 95616, USA
    J Biol Chem 288:13831-41. 2013
    ..FMR1 CGG expansion repeats in the premutation range have not been linked to astrocyte pathophysiology...
  41. pmc Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome
    Andrea Schneider
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California at Davis, Sacramento, CA 95817, USA
    Neurobiol Aging 33:1045-53. 2012
    ..The results show an impairment in sensorimotor gating processes in male carriers of the fragile X premutation, which is more prominent in patients with FXTAS...
  42. ncbi request reprint Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
    Dolores Garcia Arocena
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 14:3661-71. 2005
    ....
  43. ncbi request reprint Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins
    Ripon Paul
    MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    Neurotoxicology 31:399-402. 2010
    ....
  44. pmc Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene
    Ryu ichiro Hashimoto
    Center for Mind and Brain, University of California, Davis, California 95618, USA
    Mov Disord 26:1329-36. 2011
    ....
  45. pmc Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis?
    Paul Ashwood
    Department of Medical Microbiology and Immunology, University of California, School of Medicine, Davis, CA 95616, USA
    Brain Behav Immun 24:898-902. 2010
    ..Altered immune responses have been described in autism and there is potential that in children with FXS and autism, an abnormal immune response may play a role...
  46. pmc Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation
    Kirin Basuta
    Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, 95616, USA
    Am J Med Genet A 155:519-25. 2011
    ..This comparison allows us to examine the effect of the premutation in this male-female pair while controlling for environmental and background genetic factors...
  47. ncbi request reprint Screen for expanded FMR1 alleles in patients with essential tremor
    Dolores Garcia Arocena
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA
    Mov Disord 19:930-3. 2004
    ..Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles...
  48. pmc Altered neural activity of magnitude estimation processing in adults with the fragile X premutation
    So Yeon Kim
    Center for Mind and Brain, University of California, Davis, United States Dept of Psychiatry and Behavioral Sciences, University of California, Davis, United States
    J Psychiatr Res 47:1909-16. 2013
    ..In conclusion, we provide the first evidence on the aberrant neural correlates of magnitude estimation processing in premutation carriers accounted for by their FMR1 gene expression. ..
  49. pmc A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome
    Mary Jacena S Leigh
    Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA
    J Dev Behav Pediatr 34:147-55. 2013
    ..Previous open-label human studies demonstrated benefits in individuals with fragile X syndrome (FXS); however, its efficacy in patients with FXS has not been assessed in a controlled trial...
  50. pmc Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone
    Zhengyu Cao
    Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, CA 95616, USA
    Hum Mol Genet 21:2923-35. 2012
    ..These results demonstrate abnormal mGluR1/5 signaling in preCGG neurons, which is ameliorated by mGluR1/5 antagonists or augmentation of GABA(A) receptor signaling, and identify allopregnanolone as a candidate therapeutic lead...
  51. pmc Brief report: Sensorimotor gating in idiopathic autism and autism associated with fragile X syndrome
    Jennifer Yuhas
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis, Medical Center, 2825 50th Street, Sacramento, CA 95817, USA
    J Autism Dev Disord 41:248-53. 2011
    ..Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating...
  52. pmc A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome
    Ryu ichiro Hashimoto
    Center for Mind and Brain, University of California Davis, 267 Cousteau Place, Davis, CA 95618 5412, USA
    Brain 134:863-78. 2011
    ....
  53. pmc Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
    Weerasak Chonchaiya
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health System, 2825 50th Street, Sacramento, CA 95817, USA
    Hum Genet 128:539-48. 2010
    ..This suggests a potential new mechanism of seizure and tic exacerbation in FXS related to an intergenerational influence from autoimmunity in the carrier mother...
  54. pmc An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
    Ryu ichiro Hashimoto
    Center for Mind and Brain, University of California, Davis, CA 95618, USA
    J Psychiatr Res 45:36-43. 2011
    ..These results indicate altered prefrontal cortex activity that may underline executive and memory deficits affecting some individuals with FMR1 premutation including FXTAS patients...
  55. ncbi request reprint Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
    Alexandra Beilina
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 13:543-9. 2004
    ..Furthermore, the correspondence between start site utilization and the degree of elevation of FMR1 mRNA suggests that a substantial fraction of the increased message in the premutation range may derive from the upstream start sites...
  56. pmc High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique
    Jennifer Yuhas
    M I N D Institute, University of California Davis Medical Center, Sacramento, California, USA
    Genet Test Mol Biomarkers 13:855-9. 2009
    ..It is accurate, rapid, inexpensive, and applicable on blood spots and therefore ideal for international screening. The use of this blood spot screening technique was piloted in "a high-risk screening" study of individuals in Guatemala...
  57. ncbi request reprint Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis, Medical Center, 2825 50th Street, Sacramento, CA 95817, USA
    J Autism Dev Disord 38:184-9. 2008
    ..This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS...
  58. ncbi request reprint Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions
    Carolyn M Yrigollen
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA
    J Hum Genet 58:553-9. 2013
    ..The detection of AGG interruptions within the premutation alleles is important in genetic counseling, to better predict the risk of expansion during transmission from a premutation to a full-mutation allele. ..
  59. ncbi request reprint Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome
    Dalyir I Pretto
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, USA Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA, USA
    Neurobiol Aging 35:1189-97. 2014
    ..These data suggests a dysregulation of Glu signaling in PM carriers, which would likely contribute to the development and severity of FXTAS. ..
  60. pmc Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
    Sebastien Jacquemont
    M I N D Institute, UC Davis Medical Center, 4860 Y Street, Suite 3020, Sacramento, CA 95817, USA
    Am J Hum Genet 72:869-78. 2003
    ....
  61. pmc Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study
    Rebecca J Schmidt
    Department of Public Health Sciences, University of California Davis School of Medicine, Davis, CA 95616 8638, USA
    Am J Clin Nutr 96:80-9. 2012
    ..Periconceptional folate is essential for proper neurodevelopment...
  62. doi request reprint Sleep apnea in fragile X premutation carriers with and without FXTAS
    Alyssa Hamlin
    MIND Institute, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet B Neuropsychiatr Genet 156:923-8. 2011
    ..We recommend that all patients diagnosed with FXTAS be screened for sleep apnea given the negative and perhaps accelerative impact sleep apnea may have on their FXTAS progression...
  63. ncbi request reprint Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
    Faraz Farzin
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California, Davis, CA, USA
    J Dev Behav Pediatr 27:S137-44. 2006
    ..If the premutation is identified through cascade testing, then further assessment should be carried out for symptoms of ADHD, social deficits, or learning disabilities...
  64. pmc Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
    Yucui Chen
    Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 19:196-208. 2010
    ..The reduced viability of preCGG neurons is consistent with the mRNA toxicity and neurodegeneration associated with FXTAS...
  65. ncbi request reprint Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
    Randi J Hagerman
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 143:2256-60. 2007
    ....
  66. ncbi request reprint Newborn screening and cascade testing for FMR1 mutations
    Page L Sorensen
    University of California Davis Medical Center, Sacramento, CA, USA
    Am J Med Genet A 161:59-69. 2013
    ..Also with identification of carrier family members through NBS, reproductive choices become available to those who would not have known that they were at risk to have offspring with fragile X syndrome...
  67. pmc A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS
    Vivien Narcisa
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA Department of Pediatrics, University of California Davis Medical Center, 2516 Stockton Boulevard, Sacramento, CA 95817, USA
    Curr Gerontol Geriatr Res 2011:484713. 2011
    ..Notably, there were no differences across groups in intention tremor. This is likely due to the milder symptoms in females compared to males with FXTAS...
  68. ncbi request reprint Amygdala dysfunction in men with the fragile X premutation
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis, Medical Center, Sacramento, CA 95817, USA
    Brain 130:404-16. 2007
    ..The aetiology for this dysfunction may be elevated FMR1 mRNA or reduced FMR1 protein that occurs in carriers with higher premutation CGG repeat alleles...
  69. ncbi request reprint FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California 95616, USA
    RNA Biol 1:103-5. 2004
    ..Consistent with this model, we have now identified FMR1 mRNA within the intranuclear inclusions isolated from post-mortem (FXTAS) brain tissue...
  70. pmc Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis
    Claudia M Greco
    Department of Pathology, University of California, Davis, Health System, Sacramento, CA 95817, USA
    Arch Neurol 65:1114-6. 2008
    ..Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms...
  71. doi request reprint Two boys with fragile x syndrome and hepatic tumors
    Juthamas Wirojanan
    Medical Investigation of Neurodevelopmental Disorders, University of California Davis Health System, Sacramento, CA 95817, USA
    J Pediatr Hematol Oncol 30:239-41. 2008
    ..We speculate regarding molecular pathways that might explain the cooccurrence of the 2 conditions. Further examination of a possible functional link between hepatic neoplasia and loss of FMRP is warranted...
  72. ncbi request reprint Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
    Am J Med Genet B Neuropsychiatr Genet 139:115-21. 2005
    ....
  73. ncbi request reprint Autistic spectrum disorder and the fragile X premutation
    Beth L Goodlin-Jones
    M I N D Institute, Department of Psychiatry and Behavioral Sciences, UCDHS, Sacramento, California 95817, USA
    J Dev Behav Pediatr 25:392-8. 2004
    ..Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD...
  74. pmc Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task
    Naomi J Goodrich-Hunsaker
    NeuroTherapeutics Research Institute, University of California Davis Medical Center Sacramento, CA, USA
    Front Hum Neurosci 5:63. 2011
    ....
  75. pmc Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population
    Isabel Fernandez-Carvajal
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA 95616, USA
    J Mol Diagn 11:324-9. 2009
    ....
  76. pmc Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome
    John M Olichney
    Department of Neurology, University of California Davis, Davis, CA 95618, USA
    Brain 133:1438-50. 2010
    ..Their more severe reduction in N400 repetition effect, than P600, is in contrast to the reverse pattern reported in amnestic mild cognitive impairment and incipient Alzheimer's disease (Olichney et al., 2008)...
  77. pmc Broad clinical involvement in a family affected by the fragile X premutation
    Weerasak Chonchaiya
    M I N D Institute, University of California Davis Medical Center, Sacramento, CA, USA
    J Dev Behav Pediatr 30:544-51. 2009
    ..To facilitate the integration of this knowledge into clinical practice, this is the first case report that demonstrates only premutation involvement across 3 generations...
  78. pmc Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene
    Eric D Dodds
    Department of Chemistry, University of California Davis, One Shields Avenue, Davis, California 95616, USA
    Anal Chem 81:5533-40. 2009
    ..Moreover, this analytical scheme establishes a unique new intersection of MS with molecular biology, with potential for significant interdisciplinary impact...
  79. doi request reprint A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS
    Dalila Aguilar
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:629-35. 2008
    ..0016). These results demonstrate that the quantitative measures of the CATSYS system can document significant differences in intention tremor and postural sway in patients with FXTAS compared to controls...
  80. ncbi request reprint Age-dependent structural connectivity effects in fragile x premutation
    Jun Yi Wang
    Departments of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, CA, USA
    Arch Neurol 69:482-9. 2012
    ..To examine the effects of premutation alleles on major brain fiber tracts in males...
  81. ncbi request reprint The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
    Li sheng Chen
    Department of Biological Chemistry, University of California, Davis School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 12:3067-74. 2003
    ..Interestingly, optimal translation appears to occur near the modal repeat number within the general human population...
  82. pmc Translation of the FMR1 mRNA is not influenced by AGG interruptions
    Anna L Ludwig
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, 4303 Tupper Hall, Davis, CA 95616, USA
    Nucleic Acids Res 37:6896-904. 2009
    ....
  83. pmc Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism
    Rebecca J Schmidt
    Department of Public Health Sciences, University of California Davis School of Medicine, Davis, CA, USA
    Epidemiology 22:476-85. 2011
    ..Causes of autism are unknown. Associations with maternal nutritional factors and their interactions with gene variants have not been reported...
  84. ncbi request reprint Mitochondrial dysfunction in autism
    Cecilia Giulivi
    University of California, School of Veterinary Medicine, Department of Molecular Biosciences, One Shields Avenue, 1120 Haring Hall, Davis, CA 95616, USA
    JAMA 304:2389-96. 2010
    ..No studies have evaluated mitochondrial dysfunction and mitochondrial DNA (mtDNA) abnormalities in a well-defined population of children with autism...
  85. ncbi request reprint The Prader-Willi phenotype of fragile X syndrome
    Stephen T Nowicki
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    J Dev Behav Pediatr 28:133-8. 2007
    ..CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03)...
  86. pmc Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome
    Yukari Takarae
    University of California, Davis, California, USA
    Cogn Affect Behav Neurosci 9:83-90. 2009
    ..Our results support that a single gene, COMT, could modulate PFC-dependent cognition...
  87. pmc A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders M I N D, Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA
    J Neurodev Disord 1:33-45. 2009
    ..A method of raw score transformation may improve the characterization of cognitive functioning in ID populations, especially for research applications...
  88. ncbi request reprint Early acceleration of head circumference in children with fragile x syndrome and autism
    Sufen Chiu
    Department of Psychiatry and Behavioral Sciences and MIND Institute, University of California Davis, Davis, CA 95817, USA
    J Dev Behav Pediatr 28:31-5. 2007
    ....
  89. pmc A quantitative ELISA assay for the fragile x mental retardation 1 protein
    Christine Iwahashi
    Department of Biochemistry and Molecular Medicine, UC Davis, School of Medicine, Davis, CA 95616, USA
    J Mol Diagn 11:281-9. 2009
    ..The FMRP ELISA is potentially a powerful tool in expanding our understanding of the relationship between FMRP levels and the various FMR1-associated clinical phenotypes...
  90. ncbi request reprint Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
    J S Adams
    M I N D Institute, University of California, Davis, CA, USA
    Neurology 69:851-9. 2007
    ..Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of a premutation expansion (55 to 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene...
  91. pmc Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
    R J Hagerman
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, CA, 95817, USA
    Am J Hum Genet 74:1051-6. 2004
    ....
  92. pmc A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA
    F Tassone
    Department of Biological Chemistry, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA, USA
    J Med Genet 38:453-6. 2001
    ..The low/absent FMRP levels are probably a reflection of a post-trancriptional effect such as a defect in translation...
  93. ncbi request reprint Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
    C M Greco
    Department of Pathology, University of California, Davis, Medical Center, Sacramento, USA
    Brain 129:243-55. 2006
    ....
  94. ncbi request reprint Protein composition of the intranuclear inclusions of FXTAS
    C K Iwahashi
    Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA
    Brain 129:256-71. 2006
    ..The list of proteins includes at least two RNA binding proteins, heterogeneous nuclear ribonucleoprotein A2 and muscle blind-like protein 1, which are possible mediators of the RNA gain-of-function in FXTAS...
  95. pmc Aging in individuals with the FMR1 mutation
    S Jacquemont
    M I N D Institute, University of California, Davis, Medical Center, Sacremento 95817, USA
    Am J Ment Retard 109:154-64. 2004
    ..This review is a summary of our experience with FXTAS in male carriers of the premutation...
  96. ncbi request reprint Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    C M Greco
    Department of Pathology, University of California, Davis, School of Medicine, USA
    Brain 125:1760-71. 2002
    ..The origin of the inclusions is unknown, although elevated FMR1 mRNA levels in these pre-mutation carriers may lead to the neuropathological changes...
  97. pmc Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers
    P E Adams
    M I N D Institute, University of California, Davis Health System, Sacramento, California, USA
    Am J Med Genet B Neuropsychiatr Genet 153:775-85. 2010
    ..Though the presentation of FXTAS symptoms is less common in females, anxiety-related problems are common both prior to and after the onset of FXTAS, and may be related to hippocampal changes...
  98. doi request reprint A girl with fragile X premutation from sperm donation
    Juthamas Wirojanan
    MIND Institute, University of California Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:888-92. 2008
    ..We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring...
  99. ncbi request reprint Paternal transmission of fragile X syndrome
    Susan Zeesman
    Department of Pediatrics, McMaster University, Hamilton, Ontario
    Am J Med Genet A 129:184-9. 2004
    ..Since his daughter has both premutation and full mutation alleles the expansion to full mutation in this case must have occurred postzygotically...
  100. ncbi request reprint Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
    Jim Grigsby
    Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045, USA
    J Neurol Sci 248:227-33. 2006
    ..The results provide evidence that FXTAS involves marked impairment of executive cognitive abilities...
  101. pmc Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    J Med Genet 44:200-4. 2007
    ..Those alleles with a CGG repeat number ranging between approximately 41 and 55 are relatively poorly defined with regard to both transcriptional and translational activity, and also potential phenotypic effects...