Results 11 to 20 of about 8,328 (110)

Role of fragile X messenger ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective

Neuroscience and Biobehavioral Reviews
Fragile X messenger ribonucleoprotein 1 (FMRP) is a widely expressed RNA binding protein involved in several steps of mRNA metabolism. Mutations in the FMR1 gene encoding FMRP are responsible for fragile X syndrome (FXS), a leading genetic cause of intellectual disability and autism spectrum disorder, and fragile X-associated tremor-ataxia syndrome ...
D'Antoni S., Spatuzza M., Bonaccorso C. M., Catania M. V.   +3 more
exaly   +4 more sources

Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back

Biomolecules
Silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene and a consequent lack of FMR protein (FMRP) synthesis are associated with fragile X syndrome, one of the most common inherited intellectual disabilities.
M -Reza Ahmadian, Mohamed Taha, Ahmadian Mohammad Reza   +2 more
exaly   +3 more sources

SPG601-associated modulation of resting-state EEG and improvement in executive function in a fragile X syndrome randomized controlled crossover study [PDF]

Scientific Reports
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. Despite extensive research, no targeted treatments exist for the core symptoms of FXS.
Ernest V. Pedapati, Peter W. Vanderklish, Stella T. Sarraf, Sharron Gargosky, Meredith Nelson, Sarah Richter, Grace Westerkamp, Craig A. Erickson   +7 more
doaj   +2 more sources

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome [PDF]

Journal of Neurodevelopmental Disorders
Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5’UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30–55 CGG units in length. Once the
Grace Farmiloe, Veronika Bejczy, Elisabetta Tabolacci, Rob Willemsen, Frank Jacobs   +4 more
doaj   +2 more sources

Neurodevelopment and early pharmacological interventions in Fragile X Syndrome

Frontiers in Neuroscience, 2023
Fragile X Syndrome (FXS) is a neurodevelopmental disorder and the leading monogenic cause of autism and intellectual disability. For years, several efforts have been made to develop an effective therapeutic approach to phenotypically rescue patients from
Luis A. Milla, Lucia Corral, Jhanpool Rivera, Nolberto Zuñiga, Gabriela Pino, Alexia Nunez-Parra, Alexia Nunez-Parra, Christian A. Cea-Del Rio   +7 more
doaj   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Frontiers in Genetics, 2023
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source

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
doaj   +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

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
doaj   +1 more source