RNA modifications in physiology and disease: towards clinical applications
The ability of chemical modifications of single nucleotides to alter the electrostatic charge,
hydrophobic surface and base pairing of RNA molecules is exploited for the clinical use of�…
hydrophobic surface and base pairing of RNA molecules is exploited for the clinical use of�…
[HTML][HTML] Autism spectrum disorder: neurodevelopmental risk factors, biological mechanism, and precision therapy
L Wang, B Wang, C Wu, J Wang, M Sun�- International journal of�…, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined
neurodevelopmental disorder. Over the past two decades, the prevalence of autism�…
neurodevelopmental disorder. Over the past two decades, the prevalence of autism�…
Antisense oligonucleotide rescue of CGG expansion–dependent FMR1 mis-splicing in fragile X syndrome restores FMRP
S Shah, KJ Sharp, S Raju Ponny…�- Proceedings of the�…, 2023 - National Acad Sciences
Aberrant alternative splicing of mRNAs results in dysregulated gene expression in multiple
neurological disorders. Here, we show that hundreds of mRNAs are incorrectly expressed�…
neurological disorders. Here, we show that hundreds of mRNAs are incorrectly expressed�…
[HTML][HTML] Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway
Fragile X messenger ribonucleoprotein 1 protein (FMRP) binds many mRNA targets in the
brain. The contribution of these targets to fragile X syndrome (FXS) and related autism�…
brain. The contribution of these targets to fragile X syndrome (FXS) and related autism�…
[HTML][HTML] Neuropathology of incidental Lewy body & prodromal Parkinson's disease
T Koeglsperger, SL Rumpf, P Schlie�er…�- Molecular�…, 2023 - Springer
Background Parkinson's disease (PD) is a progressive neurodegenerative disorder
associated with a loss of dopaminergic (DA) neurons. Despite symptomatic therapies, there�…
associated with a loss of dopaminergic (DA) neurons. Despite symptomatic therapies, there�…
[HTML][HTML] Codon optimality-mediated mRNA degradation: Linking translational elongation to mRNA stability
Messenger RNA (mRNA) translation by the ribosome represents the final step of a
complicated molecular dance from DNA to protein. Although classically considered a�…
complicated molecular dance from DNA to protein. Although classically considered a�…
mRNA transport, translation, and decay in adult mammalian central nervous system axons
Localized mRNA translation regulates synapse function and axon maintenance, but how
compartment-specific mRNA repertoires are regulated is largely unknown. We developed an�…
compartment-specific mRNA repertoires are regulated is largely unknown. We developed an�…
Aberrant hyperexpression of the RNA binding protein FMRP in tumors mediates immune evasion
Q Zeng, S Saghafinia, A Chryplewicz, N Fournier…�- Science, 2022 - science.org
Many human cancers manifest the capability to circumvent attack by the adaptive immune
system. In this work, we identified a component of immune evasion that involves frequent up�…
system. In this work, we identified a component of immune evasion that involves frequent up�…
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�…
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
X Jia, S Zhang, S Tan, B Du, M He, H Qin, J Chen…�- Science�…, 2022 - science.org
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We
report a new neurodevelopmental disorder (NDD) with common features of language�…
report a new neurodevelopmental disorder (NDD) with common features of language�…