Results 31 to 40 of about 7,199,374 (204)

Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes

Cell Reports, 2014
Summary: Fragile X syndrome (FXS) is the leading genetic cause of autism. Mutations in Fmr1 (fragile X mental retardation 1 gene) engender exaggerated translation resulting in dendritic spine dysmorphogenesis, synaptic plasticity alterations, and ...
Christos G. Gkogkas, Arkady Khoutorsky, Ruifeng Cao, Seyed Mehdi Jafarnejad, Masha Prager-Khoutorsky, Nikolaos Giannakas, Archontia Kaminari, Apostolia Fragkouli, Karim Nader, Theodore J. Price, Bruce W. Konicek, Jeremy R. Graff, Athina K. Tzinia, Jean-Claude Lacaille, Nahum Sonenberg   +14 more
doaj   +1 more source

Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

Journal of Neurodevelopmental Disorders, 2021
Background Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.
M. Marlborough, A. Welham, C. Jones, S. Reckless, J. Moss   +4 more
doaj   +1 more source

Cytoplasmic Polyadenylation Element-Binding Protein 1 Post-transcriptionally Regulates Fragile X Mental Retardation 1 Expression Through 3′ Untranslated Region in Central Nervous System Neurons

Frontiers in Cellular Neuroscience, 2022
Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (Fmr1) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1)
Souichi Oe, Shinichi Hayashi, Susumu Tanaka, Taro Koike, Yukie Hirahara, Ryohei Seki-Omura, Rio Kakizaki, Sumika Sakamoto, Yosuke Nakano, Yasuko Noda, Hisao Yamada, Masaaki Kitada   +11 more
doaj   +1 more source

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Ayala-Zapata, Sebastián, Tassone, Flora, Forero-Forero, Jose Vicente   +5 more
core   +1 more source

Wnd/DLK Is a Critical Target of FMRP Responsible for Neurodevelopmental and Behavior Defects in the Drosophila Model of Fragile X Syndrome

Cell Reports, 2019
Summary: Fragile X syndrome (FXS) is the leading heritable cause of intellectual disability and commonly co-occurs with autism spectrum disorder. Silencing of the Fmr1 gene leads to the absence of the protein product, fragile X mental retardation protein
Alexandra Russo, Aaron DiAntonio
doaj   +1 more source

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

Journal of Biomedicine and Translational Research, 2019
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region ...
Sultana MH Faradz, Tri Indah Winarni
doaj   +1 more source

Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots

Scientific Reports, 2022
Fragile X Syndrome (FXS) is caused by a trinucleotide expansion leading to silencing of the FMR1 gene and lack of expression of Fragile X Protein (FXP, formerly known as Fragile X Mental Retardation Protein, FMRP).
Anna E. Boggs, Lauren M. Schmitt, Richard D. McLane, Tatyana Adayev, Giuseppe LaFauci, Paul S. Horn, Kelli C. Dominick, Christina Gross, Craig A. Erickson   +8 more
doaj   +1 more source

Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023

, 2023
Fragile X syndrome (FXS) is the leading single-gene cause of inherited intellectual disability and autism [...
David E. Godler, William T. Brown
core   +1 more source

Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals

Cells, 2023
Fragile X syndrome (FXS) is the most common form of monogenic intellectual disability and autism, caused by the absence of the functional fragile X messenger ribonucleoprotein 1 (FMRP).
Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace, Claudia Bagni   +10 more
doaj   +1 more source

Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study [PDF]

BMC Psychiatry, 2016
Background As data on the phenotype, characteristics and management of patients with Fragile X Syndrome (FXS) are limited, we aimed to collect such data in Germany in experienced centres involved in the treatment of such patients. Methods EXPLAIN-FXS is a prospective observational (non- interventional) study (registry) performed between April 2013 and ...
Haessler, F., Gaese, F., Huss, M., Kretschmar, C., Brinkman, M., Peters, H., Elstner, S., Colla, M., Pittrow, D.   +8 more
openaire   +3 more sources