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 …

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

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 …

RNA transport and local translation in neurodevelopmental and neurodegenerative disease

MS Fernandopulle, J Lippincott-Schwartz… - Nature …, 2021 - nature.com
Neurons decentralize protein synthesis from the cell body to support the active metabolism
of remote dendritic and axonal compartments. The neuronal RNA transport apparatus …

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

EM Berry-Kravis, L Lindemann, AE Jønch… - Nature reviews Drug …, 2018 - nature.com
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

M Sahin, M Sur - Science, 2015 - science.org
BACKGROUND Neurodevelopmental disorders are caused by abnormalities in the
developing brain. Such abnormalities can occur as a result of germline or somatic mutations …

Dysregulation and restoration of translational homeostasis in fragile X syndrome

JD Richter, GJ Bassell, E Klann - Nature Reviews Neuroscience, 2015 - nature.com
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …

Translational control in synaptic plasticity and cognitive dysfunction

SA Buffington, W Huang… - Annual review of …, 2014 - annualreviews.org
Activity-dependent changes in the strength of synaptic connections are fundamental to the
formation and maintenance of memory. The mechanisms underlying persistent changes in …

Metformin ameliorates core deficits in a mouse model of fragile X syndrome

I Gantois, A Khoutorsky, J Popic, A Aguilar-Valles… - Nature medicine, 2017 - nature.com
Fragile X syndrome (FXS) is the leading monogenic cause of autism spectrum disorders
(ASD). Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leading to …

Post-transcriptional regulation of gene expression and human disease

AH Corbett - Current opinion in cell biology, 2018 - Elsevier
A large number of mutations in genes that encode RNA binding proteins cause human
disease. Many of these RNA binding proteins mediate key steps in post-transcriptional …