Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Mouse Models of Fragile X-Associated Tremor Ataxia

(2016) Robert F. Berman et al.   JOURNAL OF INVESTIGATIVE MEDICINE

Fragile X syndrome: From protein function to therapy

(2013) Claudia Bagni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala

(2013) Sebila Kratovac et al.   BRAIN RESEARCH

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

(2013) M. I. Alvarez-Mora et al.   GENES BRAIN AND BEHAVIOR

Enhanced Asynchronous Ca2+Oscillations Associated with Impaired Glutamate Transport in Cortical Astrocytes ExpressingFmr1Gene Premutation Expansion

(2013) Zhengyu Cao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation

(2013) So-Yeon Kim et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

Lamin A/C Depletion Enhances DNA Damage-Induced Stalled Replication Fork Arrest

(2013) Mayank Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2013) Dalyir I. Pretto et al.   NEUROBIOLOGY OF AGING

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Fmr1 Transcript Isoforms: Association with Polyribosomes; Regional and Developmental Expression in Mouse Brain

(2013) David M. Brackett et al.   PLoS One

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Fragile X–Associated Tremor/Ataxia Syndrome

(2013) Jun Yi Wang et al.   JAMA Neurology

The FMRP regulon: from targets to disease convergence

(2013) Esperanza Fernández et al.   Frontiers in Neuroscience

Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation

(2012) Erik W. Schluter et al.   BRAIN RESEARCH

Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation

(2012) Robert F. Berman et al.   EPILEPSIA

Gene expression profiles in the cerebellum of transgenic mice over expressing the human FMR1 gene with CGG repeats in the normal range

(2012) J.J. Fernández et al.   GENETICS AND MOLECULAR RESEARCH

CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation

(2012) Michael R. Hunsaker et al.   HIPPOCAMPUS

Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice

(2012) A. J. Iliff et al.   HUMAN MOLECULAR GENETICS

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone

(2012) Zhengyu Cao et al.   HUMAN MOLECULAR GENETICS

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency

(2012) Gloria E. Hoffman et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Early mitochondrial abnormalities in hippocampal neurons cultured fromFmr1pre-mutation mouse model

(2012) Eitan S. Kaplan et al.   JOURNAL OF NEUROCHEMISTRY

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte

(2012) Verena Aumiller et al.   RNA Biology

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

(2012) Flora Tassone et al.   Genome Medicine

MicroRNA-277 Modulates the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats

(2012) Huiping Tan et al.   PLoS Genetics

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

(2011) Michael R. Hunsaker et al.   ACTA NEUROPATHOLOGICA

Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice

(2011) Michael R. Hunsaker et al.   BEHAVIOURAL BRAIN RESEARCH

CGG repeat in the FMR1 gene: size matters

(2011) R Willemsen et al.   CLINICAL GENETICS

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS

(2011) G. Hoem et al.   HUMAN MOLECULAR GENETICS

The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine

(2011) Shane A. Richards et al.   HUMAN MOLECULAR GENETICS

Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts

(2011) Kan Cao et al.   JOURNAL OF CLINICAL INVESTIGATION

Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene

(2011) Ryu-ichiro Hashimoto et al.   MOVEMENT DISORDERS

A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis

(2011) Mei Qin et al.   NEUROBIOLOGY OF DISEASE

Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task

(2011) Amanda A. Diep et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles

(2011) F. Tassone et al.   NUCLEIC ACIDS RESEARCH

Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex

(2011) K. Fenelon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurodegeneration the RNA way

(2011) Abigail J. Renoux et al.   PROGRESS IN NEUROBIOLOGY

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation

(2010) H. Jürgen Wenzel et al.   BRAIN RESEARCH

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

(2010) Feras M Hantash et al.   GENETICS IN MEDICINE

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

(2010) Weerasak Chonchaiya et al.   HUMAN GENETICS

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

(2010) Christopher L. Cunningham et al.   HUMAN MOLECULAR GENETICS

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Progressive spatial processing deficits in a mouse model of the fragile X premutation.

(2009) Michael R. Hunsaker et al.   BEHAVIORAL NEUROSCIENCE

Novel roles for A-type lamins in telomere biology and the DNA damage response pathway

(2009) Ignacio Gonzalez-Suarez et al.   EMBO JOURNAL

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

(2009) Laia Rodriguez-Revenga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fibroblast phenotype in male carriers of FMR1 premutation alleles

(2009) Dolores Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

(2009) V. Hashem et al.   HUMAN MOLECULAR GENETICS

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

(2009) Y. Chen et al.   HUMAN MOLECULAR GENETICS

Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene

(2008) Edmund C. Jenkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TheFMR1gene and fragile X-associated tremor/ataxia syndrome

(2008) J.R. Brouwer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene.

(2008) Corinne M. Spencer et al.   BEHAVIORAL NEUROSCIENCE

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

(2008) Charlotte D'Hulst et al.   BRAIN RESEARCH

Elevated Plasma Levels of α -1-Anti-Chymotrypsin in Age-Related Cognitive Decline and Alzheimers Disease: A Potential Therapeutic Target

(2008) E. Porcellini et al.   CURRENT PHARMACEUTICAL DESIGN

The role of the dentate gyrus, CA3a,b, and CA3c for detecting spatial and environmental novelty

(2008) Michael R. Hunsaker et al.   HIPPOCAMPUS

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

(2008) Judith R. Brouwer et al.   JOURNAL OF NEUROCHEMISTRY

Conditional Loss of Dicer Disrupts Cellular and Tissue Morphogenesis in the Cortex and Hippocampus

(2008) T. H. Davis et al.   JOURNAL OF NEUROSCIENCE

Dicer Inactivation Leads to Progressive Functional and Structural Degeneration of the Mouse Retina

(2008) D. Damiani et al.   JOURNAL OF NEUROSCIENCE

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

(2008) Jim Grigsby et al.   NEUROPSYCHOLOGY

Transthyretin protects Alzheimer's mice from the behavioral and biochemical effects of A  toxicity

(2008) J. N. Buxbaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA