The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes [PDF]
GliaThe Fragile X Messenger Ribonucleoprotein (FMRP) is an RNA binding protein that regulates the translation of multiple mRNAs and is expressed by neurons and glia in the mammalian brain.
Siddharthan Chandran +2 more
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Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals [PDF]
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 +10 more
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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 +8 more
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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]
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 +45 more
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From wings to whiskers to stem cells: why every model matters in fragile X syndrome research
Journal of Neurodevelopmental DisordersFragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP).
Soraya O. Sandoval +3 more
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Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome [PDF]
SAGE Open MedicineBackground: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic +22 more
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SPG601-associated modulation of resting-state EEG and improvement in executive function in a fragile X syndrome randomized controlled crossover study [PDF]
Scientific ReportsFragile 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 +7 more
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Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome-linked mutations. [PDF]
FEBS JFragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Catalano F +10 more
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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 +7 more
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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 +7 more
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