Results 21 to 30 of about 8,261 (127)

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman   +45 more
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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

Phenotypic variability to medication management: an update on fragile X syndrome

Human Genomics, 2023
This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS).
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi   +8 more
doaj   +1 more source

The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study

Journal of Neurodevelopmental Disorders, 2022
Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism.
Isha Jalnapurkar, Jean A. Frazier, Mark Roth, David M. Cochran, Ann Foley, Taylor Merk, Lauren Venuti, Lucienne Ronco, Shane Raines, Diego Cadavid   +9 more
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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
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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