This study shows that #RNAsplicing is widely dysregulated when #FMRP is lost; this involves multiple splicing factors, including MBNL1. In FMRP-depleted cells, Mbnl1 RNA is misspliced, mislocalizing #MBNL1, and in turn messing up further RNAs #PLOSBiology https://plos.io/3R6E9GN

Neurons struggle to spike without fragile X gene

https://www.spectrumnews.org/news/neurons-struggle-to-spike-without-fragile-x-gene/

#fragileXsyndrome #prefrontalcortex #dendrites #autism #cortex #News #FMR1 #FMRP

The RNA-binding protein #FMRP binds the Csw/SHP2 transcript, in turn regulating presynaptic MAPK/ERK signaling & #neurotransmission. This mechanistically links two cognitive disorders; #NoonanSyndrome & #FragileX syndrome #PLOSBiology https://plos.io/3JjpqG0

The RNA-binding protein #FMRP binds the Csw/SHP2 transcript, in turn regulating presynaptic MAPK/ERK signaling & #neurotransmission. This mechanistically links two cognitive disorders; #NoonanSyndrome & #FragileX syndrome #PLOSBiology https://plos.io/3JjpqG0

The RNA-binding protein #FMRP binds the Csw/SHP2 transcript, in turn regulating presynaptic MAPK/ERK signaling & #neurotransmission. This mechanistically links two cognitive disorders; #NoonanSyndrome & #FragileX syndrome #PLOSBiology https://plos.io/3JjpqG0

Missing mechanism helps solve fragile X protein mystery

https://www.spectrumnews.org/news/missing-mechanism-helps-solve-fragile-x-protein-mystery/

#intellectualdisability #repetitivebehaviors #socialdifficulties #fragileXsyndrome #neuralcircuits #connectivity #hippocampus #mousemodels #treatments #synapses #autism #News #FMR1 #FMRP

In #Science (@sciencemagazine) this week, the Hanahan lab shows that the #RNA-binding protein #FMRP enables #tumors to evade being attacked by #CD8TCells. It does so by both suppressing #CCL17 & promoting #Tregs via #IL33 & #M2 #macrophages via #PROS1 & #ExtracellularVesicles!

https://bit.ly/Sci_abl7207

#CancerImmunology #RBP

Fragile X neurons develop atypically in chimeric mice

https://www.spectrumnews.org/news/fragile-x-neurons-develop-atypically-in-chimeric-mice/

#fragileXsyndrome #mousemodels #autism #News #FMR1 #FMRP

The cloudy connection between fragile X and cancer

https://www.spectrumnews.org/news/the-cloudy-connection-between-fragile-x-and-cancer/

#intellectualdisability #tuberoussclerosis #fragileXsyndrome #autism #cancer #News #FMR1 #FMRP #PTEN #TSC1

Largest-yet fragile X mutation in mice confirms model’s shortcomings

https://www.spectrumnews.org/news/largest-yet-fragile-x-mutation-in-mice-confirms-models-shortcomings/

#fragileXsyndrome #geneexpression #epigenetics #mousemodels #autism #News #FMR1 #FMRP

Plethora of protein-making machines in neurons may underlie fragile X

https://www.spectrumnews.org/news/plethora-of-protein-making-machines-in-neurons-may-underlie-fragile-x/

#synapticplasticity #fragileXsyndrome #geneexpression #hippocampus #mousemodels #SFARIGene #autism #mGluR5 #News #FMR1 #FMRP

Portrait of a research field: astrocytes in autism

https://www.spectrumnews.org/features/deep-dive/portrait-of-a-research-field-astrocytes-in-autism/

#excitatorysignaling #inhibitorysignaling #signalingimbalance #fragileXsyndrome #postmortembrains #geneexpression #Rettsyndrome #environment #mousemodels #astrocytes #organoids #DeepDive #seizures #synapses #autism #MECP2 #FMR1 #FMRP #GABA

A whisper of autism: Fragile X carriers and the autism phenotype

https://www.spectrumnews.org/opinion/viewpoint/a-whisper-of-autism-fragile-x-carriers-and-the-autism-phenotype/

#fragileXsyndrome #bipolardisorder #genetictesting #endophenotype #aripiprazole #depression #Viewpoint #anxiety #autism #FMR1 #FMRP

Location prompts fragile X protein to flip its function

https://www.spectrumnews.org/news/location-prompts-fragile-x-protein-to-flip-its-function/

#signalingimbalance #synapticplasticity #learningandmemory #fragileXsyndrome #hippocampus #seizures #synapses #autism #News #FMRP

Finding a path forward for fragile X drugs

https://www.spectrumnews.org/news/finding-a-path-forward-for-fragile-x-drugs/

#fragileXsyndrome #clinicaltrials #biomarkers #treatments #language #autism #News #FMR1 #FMRP #EEG

Remembering Steve Warren (1953-2021): A giant in the field of genetics

https://www.spectrumnews.org/opinion/viewpoint/remembering-steve-warren-1953-2021-a-giant-in-the-field-of-genetics/

#spokenversion #Viewpoint #fragileX #autism #FMR1 #FMRP

Molecular overlap links tuberous sclerosis, fragile X

https://www.spectrumnews.org/news/molecular-overlap-links-tuberous-sclerosis-fragile-x/

#tuberoussclerosis #fragileXsyndrome #geneexpression #spokenversion #cerebellum #rapamycin #News #FMRP #TSC1