A5061384110- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- DNA and Nucleic Acid Chemistry
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Epigenetics and DNA Methylation
- RNA regulation and disease
- RNA Research and Splicing
- Bacteriophages and microbial interactions
- Advanced biosensing and bioanalysis techniques
- DNA Repair Mechanisms
- Protein Structure and Dynamics
- Electrostatics and Colloid Interactions
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Enzyme Structure and Function
- Genomics and Phylogenetic Studies
- Chromatin Remodeling and Cancer
- Nanopore and Nanochannel Transport Studies
University of California, Davis
2015-2025
University of California Davis Medical Center
2010-2023
UC Davis Health System
2007-2021
NeuroDevelopment Center
2004-2017
Institute of Molecular Medicine
2001-2013
University of Colorado Denver
1992-2011
Neurological Surgery
2011
Erasmus University Rotterdam
2011
Erasmus MC
2011
Anna Needs Neuroblastoma Answers
2009
The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated executive function deficits and generalized brain atrophy. These individuals elevated mental retardation 1 gene (<i><i>FMR1</i></i>) messenger RNA normal or borderline levels of <i>FMR1</i> protein. propose that elevations may be causative for neurodegenerative syndrome in subgroup premutation.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects carriers, principally males, of premutation alleles (55–200 CGG repeats) the fragile X mental retardation 1 (FMR1) gene. Clinical features FXTAS include progressive intention tremor and gait ataxia, accompanied by characteristic white matter abnormalities on MRI. The neuropathological hallmark intranuclear inclusion, present in both neurons astrocytes throughout CNS. Prior to current...
Autism, which is common in individuals with fragile X syndrome, often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, ADOS and ADI-R, addition DSM-IV-TR 63 males this syndrome. Overall, 30% subjects met criteria autistic disorder PDD-NOS. The on were most similar, whereas ADI-R classified as much more frequently. further investigated relationship both FMRP FMRI mRNA symptoms cohort found no significant between molecular features,...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by premutation expansions (55–200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. The pathologic hallmark of FXTAS ubiquitin-positive intranuclear inclusion found neurons and astrocytes broad distribution throughout brain. pathogenesis likely to involve an RNA toxic gain-of-function mechanism, FMR1 mRNA has recently been identified within inclusions. However, little known...
Abstract In the preceding article, a Monte Carlo analysis was presented which provides quantitative numerical relationship between rotational diffusion coefficients, as measured by decay of optical anisotropy following an electric field pulse, and flexibility (persistence length) short, wormlike chains. present results foregoing are applied to observed rates birefringence for series sequenced DNA fragments ranging in size from 104 910 base pairs. Under conditions used this study, exist...
Abstract Fragile X‐associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) the fragile X mental retardation 1 ( FMR1 ) gene; however, neither prevalence, nor nature clinical phenotype, has been well characterized carriers. In this study, we evaluated 146 (mean, 42.3 years; range, 20–75 years) with and without core features FXTAS (tremor; gait ataxia), 69 age‐matched controls 45.8 21–78 years)....
Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in 5' untranslated region FMR1 (fragile mental retardation 1) gene. Molecular diagnoses FXS and other emerging disorders typically rely on 2 tests, PCR Southern blotting; however, performance or throughput limitations these methods currently constrain routine testing.We evaluated novel gene-specific technology with DNA templates from 20 cell lines 146 blinded clinical samples. The repeat...
Expansion of a trinucleotide (CGG) repeat element within the 5′ untranslated region (5′UTR) human FMR1 gene is responsible for number heritable disorders operating through distinct pathogenic mechanisms: silencing fragile X syndrome (>200 CGG) and RNA toxic gain-of-function FXTAS (∼55–200 CGG). Existing models have focused almost exclusively on post-transcriptional mechanisms, but co-transcriptional processes could also contribute to molecular dysfunction FMR1. We observed that transcription...
The human fragile X mental retardation 1 ( FMR1 ) gene contains a (CGG) n trinucleotide repeat in its 5′ untranslated region (5′UTR). Expansions of this result number clinical disorders with distinct molecular pathologies, including syndrome (FXS; full mutation range, greater than 200 CGG repeats) and X–associated tremor/ataxia (FXTAS; premutation 55–200 repeats). Study these diseases has been limited by an inability to sequence expanded repeats, particularly the existing DNA sequencing...
Recent studies have reported that alleles in the premutation range FMR1 gene males result increased mRNA levels and at same time mildly reduced protein levels. Some elderly with premutations exhibit an unique neurodegenerative syndrome characterized by progressive intention tremor ataxia. We describe neurohistological, biochemical molecular of brains mice expanded CGG repeat report elevated Fmr1 intranuclear inclusions ubiquitin, Hsp40 20S catalytic core complex proteasome as constituents....
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTSequence dependence of the curvature DNA: a test phasing hypothesisPaul J. HagermanCite this: Biochemistry 1985, 24, 25, 7033–7037Publication Date (Print):December 1, 1985Publication History Published online1 May 2002Published inissue 1 December 1985https://doi.org/10.1021/bi00346a001RIGHTS & PERMISSIONSArticle Views160Altmetric-Citations187LEARN ABOUT THESE METRICSArticle Views are COUNTER-compliant sum full text article downloads since November...