The molecular biology of FMRP: new insights into fragile X syndrome
JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …
RNA-binding proteins balance brain function in health and disease
R Schieweck, J Ninkovic… - Physiological reviews, 2021 - journals.physiology.org
Posttranscriptional gene expression including splicing, RNA transport, translation, and RNA
decay provides an important regulatory layer in many if not all molecular pathways …
decay provides an important regulatory layer in many if not all molecular pathways …
Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease
M Eshraghi, PP Karunadharma, J Blin… - Nature …, 2021 - nature.com
The polyglutamine expansion of huntingtin (mHTT) causes Huntington disease (HD) and
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …
FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory
K Sawicka, CR Hale, CY Park, JJ Fak, JE Gresack… - Elife, 2019 - elifesciences.org
Loss of the RNA binding protein FMRP causes Fragile X Syndrome (FXS), the most common
cause of inherited intellectual disability, yet it is unknown how FMRP function varies across …
cause of inherited intellectual disability, yet it is unknown how FMRP function varies across …
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development
Fragile X messenger ribonucleoprotein 1 protein (FMRP) deficiency leads to fragile X
syndrome (FXS), an autism spectrum disorder. The role of FMRP in prenatal human brain …
syndrome (FXS), an autism spectrum disorder. The role of FMRP in prenatal human brain …
Autism-misregulated eIF4G microexons control synaptic translation and higher order cognitive functions
T Gonatopoulos-Pournatzis, R Niibori, EW Salter… - Molecular cell, 2020 - cell.com
Microexons represent the most highly conserved class of alternative splicing, yet their
functions are poorly understood. Here, we focus on closely related neuronal microexons …
functions are poorly understood. Here, we focus on closely related neuronal microexons …
Ribosome and translational control in stem cells
M Gabut, F Bourdelais, S Durand - Cells, 2020 - mdpi.com
Embryonic stem cells (ESCs) and adult stem cells (ASCs) possess the remarkable capacity
to self-renew while remaining poised to differentiate into multiple progenies in the context of …
to self-renew while remaining poised to differentiate into multiple progenies in the context of …
[HTML][HTML] Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis
Transcriptional silencing of the FMR1 gene in fragile X syndrome (FXS) leads to the loss of
the RNA-binding protein FMRP. In addition to regulating mRNA translation and protein …
the RNA-binding protein FMRP. In addition to regulating mRNA translation and protein …
[HTML][HTML] FMRP control of ribosome translocation promotes chromatin modifications and alternative splicing of neuronal genes linked to autism
Silencing of FMR1 and loss of its gene product, FMRP, results in fragile X syndrome (FXS).
FMRP binds brain mRNAs and inhibits polypeptide elongation. Using ribosome profiling of …
FMRP binds brain mRNAs and inhibits polypeptide elongation. Using ribosome profiling of …
Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis
Corticogenesis is one of the most critical and complicated processes during embryonic brain
development. Any slight impairment in corticogenesis could cause neurodevelopmental …
development. Any slight impairment in corticogenesis could cause neurodevelopmental …