Results 21 to 30 of about 109,973,714 (148)

The Effect of Single-Cell Knockout of Fragile X Messenger Ribonucleoprotein on Structural Synaptic Plasticity [PDF]

, 2023
The Fragile X Syndrome (FXS), the most common inherited intellectualdisability, is caused by a loss-of-function mutation in the FMR1 gene encoding the Fragile X Messenger Ribonucleoprotein (FMRP).
Gredell, Marie
core   +1 more source

Antisense oligonucleotide rescue of CGG expansion-dependent mis-splicing in fragile X syndrome restores FMRP [PDF]

, 2023
Aberrant alternative splicing of mRNAs results in dysregulated gene expression in multiple neurological disorders. Here, we show that hundreds of mRNAs are incorrectly expressed and spliced in white blood cells and brain tissues of individuals with ...
Watts, Jonathan K, Shah, Sneha, Berry-Kravis, Elizabeth, Lee, Jonathan, Raju Ponny, Sithara, Sharp, Kevin J, Richter, Joel D   +6 more
core   +1 more source

Does metformin slow cognitive decline in individuals with Fragile X Syndrome? [PDF]

, 2023
Fragile X Syndrome (FXS) is one of the most common causes of intellectual disability. It is the result of the expansion of the trinucleotide CGG repeat (>200) in the fragile x messenger ribonucleoprotein 1 (FMR1) gene, leading to a deficiency or ...
Lippe, Sarah, Buldoc, Francois, Schneider, Andrea, Hagerman, Randi, Biag, Hazel, Whitlock, Kerri, Seng, Panhaneath, Santos, Ellergy, Maria, Montanaro Federica Alice   +8 more
core   +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

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

Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders [PDF]

, 2022
Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene.
Milica Pesic, Sofija Pavković-Lučić, Cvjetkovic, Smiljana, Hagerman, Randi, Dragana Protic, Jelena Trajković, Makevic, Vedrana, Sara Milojevic, Trajković, Jelena, Budimirovic, Dejan B, Pesic, Milica, Trajković, Jelena,; Makevic, Vedrana,; Pesic, Milica,; Pavković-Lučić, Sofija,; Milojevic, Sara,; Cvjetkovic, Smiljana,; Hagerman, Randi,; Budimirovic, Dejan B,; Protic, Dragana,, Smiljana Cvjetkovic, Milojevic, Sara, Vedrana Makevic, Randi Hagerman, Dejan B. Budimirovic, Budimirović, Dejan, Protic, Dragana, Pavković-Lučić, Sofija   +19 more
core   +1 more source

Hippocampal Astrocytes Impact Postnatal Development of Inhibitory Connections, Parvalbumin Levels, Social, and Spatial Navigation Behaviors in a Mouse Model of Fragile X Syndrome. [PDF]

J Neurochem
Astrocyte‐specific postnatal deletion of Fmr1 affects GABAergic gene expression and phasic inhibition of CA1 neurons in the hippocampus. While GABA transport in astrocytes does not alter tonic inhibition of CA1 pyramidal cells, it affects PV levels and is implicated in impaired spatial memories and social behaviors in astrocyte‐specific Fmr1 cKO mice ...
Wagner VA, Maples S, Thapa R, Wimberly J, Pettijohn E, Varallo A, Rais M, Sutley-Koury S, Hickmott P, Ethell IM.   +9 more
europepmc   +2 more sources

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

The effect of single-cell knockout of Fragile X Messenger Ribonucleoprotein on synaptic structural plasticity [PDF]

, 2023
Fragile X Syndrome (FXS) is the best-known form of inherited intellectual disability caused by the loss-of-function mutation in a single gene. The FMR1 gene mutation abolishes the expression of Fragile X Messenger Ribonucleoprotein (FMRP), which ...
Ju Lu (267510), Zuo, Yi, Yi Zuo (1556965), Marie Gredell (14830117), Gredell, Marie, Lu, Ju, Yi Zuo, Marie Gredell, Ju Lu   +8 more
core   +1 more source