Results 21 to 30 of about 8,347 (127)

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Autonomic Function in Fragile X Syndrome: A Systematic Review. [PDF]

J Intellect Disabil Res
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Weissgold S, Eley SEA, Wright D, McKechanie AG, Stanfield AC.   +4 more
europepmc   +2 more sources

From circuits to behavior: Amygdala dysfunction in fragile X syndrome

Frontiers in Integrative Neuroscience, 2023
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a repeat expansion mutation in the promotor region of the FMR1 gene resulting in transcriptional silencing and loss of function of fragile X messenger ribonucleoprotein 1 protein (FMRP).
Matthew N. Svalina, Matthew N. Svalina, Matthew N. Svalina, Matthew N. Svalina, Regina Sullivan, Regina Sullivan, Diego Restrepo, Diego Restrepo, Molly M. Huntsman, Molly M. Huntsman, Molly M. Huntsman   +10 more
doaj   +1 more source

Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models

Cell Reports, 2023
Summary: Cerebellar dysfunction has been linked to autism spectrum disorders (ASDs). Although cerebellar pathology has been observed in individuals with fragile X syndrome (FXS) and in mouse models of the disorder, a cerebellar functional contribution to
Jennifer M. Gibson, Anthony Hernandez Vazquez, Kunihiko Yamashiro, Vikram Jakkamsetti, Chongyu Ren, Katherine Lei, Brianne Dentel, Juan M. Pascual, Peter T. Tsai   +8 more
doaj   +1 more source

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

Cell Reports, 2023
Summary: Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder, but new therapies have been impeded by a lack of understanding of the pathological mechanisms.
Kellen D. Winden, Truc T. Pham, Nicole A. Teaney, Juan Ruiz, Ryan Chen, Cidi Chen, Mustafa Sahin   +6 more
doaj   +1 more source

“Corp-Osa-Mente”, a Combined Psychosocial–Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study

Brain Sciences, 2023
Fragile X Syndrome is the most known inherited form of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene located on X chromosomes leading to gene silencing.
Federica Alice Maria Montanaro, Paolo Alfieri, Stefano Vicari   +2 more
doaj   +1 more source

Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway

Nature Communications, 2023
Fragile X messenger ribonucleoprotein 1 protein (FMRP) binds many mRNA targets in the brain. The contribution of these targets to fragile X syndrome (FXS) and related autism spectrum disorder (ASD) remains unclear.
Yu Guo, Minjie Shen, Qiping Dong, Natasha M. Méndez-Albelo, Sabrina X. Huang, Carissa L. Sirois, Jonathan Le, Meng Li, Ezra D. Jarzembowski, Keegan A. Schoeller, Michael E. Stockton, Vanessa L. Horner, André M. M. Sousa, Yu Gao, Birth Defects Research Laboratory, Jon E. Levine, Daifeng Wang, Qiang Chang, Xinyu Zhao   +18 more
doaj   +1 more source

Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network

Cells, 2022
Absence of the Fragile X Messenger Ribonucleoprotein 1 (FMRP) causes autism spectrum disorders and intellectual disability, commonly referred to as the Fragile X syndrome.
Claudio D’Incal, Jitse Broos, Thierry Torfs, R. Frank Kooy, Wim Vanden Berghe   +4 more
doaj   +1 more source

Gene therapy using human FMRP isoforms driven by the human FMR1 promoter rescues fragile X syndrome mouse deficits

Molecular Therapy: Methods & Clinical Development, 2022
Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang, Linkun Han, Jian Meng, Zijie Wang, Yunqiang Zhou, Huilong Yuan, Hui Xu, Xian Zhang, Yingjun Zhao, Jinsheng Lu, Huaxi Xu, Chen Zhang, Yun-wu Zhang   +12 more
doaj   +1 more source

FMR1 Disorders: Basics of Biology and Therapeutics in Development

Cells
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett, Helene Tigro, Yuan Wang, Zucai Suo   +3 more
doaj   +1 more source