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
FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm

This study shows that RNA splicing is widely dysregulated in FMRP-deficient mouse tissues and cells and involves multiple splicing factors, including MBNL1. In FMRP-depleted cells, Mbnl1 RNA is mis-spliced, resulting in improper cytoplasmic localization of MBNL1, which in turn causes impairment of further RNAs.

Neurons struggle to spike without fragile X gene | Spectrum | Autism Research News

FMR1 loss impairs sodium channels, hindering mouse neurons from generating the electrical signals needed to transmit information.

Spectrum | Autism Research News
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
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

This study shows that the RNA-binding protein FMRP binds the Csw/SHP2 transcript, which in turn regulates presynaptic MAPK/ERK signaling and neurotransmission. This mechanistically links previously two previously unconnected cognitive disorders, Noonan syndrome and Fragile X syndrome.

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
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

This study shows that the RNA-binding protein FMRP binds the Csw/SHP2 transcript, which in turn regulates presynaptic MAPK/ERK signaling and neurotransmission. This mechanistically links previously two previously unconnected cognitive disorders, Noonan syndrome and Fragile X syndrome.

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
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

This study shows that the RNA-binding protein FMRP binds the Csw/SHP2 transcript, which in turn regulates presynaptic MAPK/ERK signaling and neurotransmission. This mechanistically links previously two previously unconnected cognitive disorders, Noonan syndrome and Fragile X syndrome.

Missing mechanism helps solve fragile X protein mystery | Spectrum | Autism Research News

Cells from people with fragile X syndrome overproduce — but don’t accumulate — proteins. New work suggests that excessive protein breakdown may account for this discrepancy, and explain some of the syndrome’s traits.

Spectrum | Autism Research News

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 | Spectrum | Autism Research News

After a brain transplant of reprogrammed human cells, the animals can for the first time recapitulate some neuronal changes seen in people with fragile X syndrome.

Spectrum | Autism Research News
The cloudy connection between fragile X and cancer | Spectrum | Autism Research News

People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.

Spectrum | Autism Research News
Largest-yet fragile X mutation in mice confirms model’s shortcomings | Spectrum | Autism Research News

A 341-repeat mutation from a person with fragile X does not lead to the syndrome’s traits or function the same way in mice, highlighting a need for different animal models.

Spectrum | Autism Research News