Fragile X syndrome |
Reduced Sema3A-induced growth cone collapse in Fmr1 knockout hippocampal neurons |
Sema3A-induced translation of Map1B mRNA; Map1B mRNA is bound by FMRP |
Axon growth and guidance |
Antar et al., 2006; Li et al., 2009; Takabatake et al., 2020
|
Fragile X syndrome |
Unknown |
FMRP-mediated translation of Munc18-1 mRNA |
Synaptogenesis |
Parvin et al., 2019
|
Fragile X syndrome |
Impaired NGF-induced axonal elongation in FMRP knockdown or miR-181d overexpressing neurons |
FMRP-miR-181d interaction regulates translation of Map1B and calmodulin mRNAs |
Microtubule stabilization during axon elongation |
Wang et al., 2015
|
Down syndrome, Fragile X syndrome and Intellectual disability |
DSCAM overexpression results in decreased axon length in mouse hippocampal neurons and impaired synaptic targeting in Drosophila FMRP knockout animals |
Dscam mRNA colocalizes with FMRP and CPEB1 (hippocampal neurons); FMRP binds to Dscam mRNA (Drosophila); DSCAM is locally translated in growth cones (hippocampal neurons) |
Axon growth and synaptogenesis |
Cvetkovska et al., 2013; Jain and Welshhans, 2016
|
ASD and Intellectual disability |
Loss of APC results in reduced social interest and repetitive behavior in mice |
APC binds to β2B-tubulin and β-catenin mRNAs |
Neuron migration and Axon outgrowth |
Barth et al., 2008; Fortress et al., 2013; Mohn et al., 2014; Preitner et al., 2014
|
ASD and Down syndrome |
Unknown |
Mena is necessary for the local translation of Dyrk1a
|
Axon growth and guidance |
Vidaki et al., 2017
|
Charcot-Marie-Tooth Disease |
Expression of CMT2b Rab7a mutants results in deficits in axon guidance and viability |
Rab7a endosomes carry mRNAs and are sites of local protein synthesis |
Axon growth and guidance |
Cioni et al., 2019
|
Spinal Muscular Atrophy |
Impaired axon outgrowth in SMA mouse model |
Loss of SMN results in mislocalization of β-actin and GAP-43 mRNAs |
Axon outgrowth |
Rossoll et al., 2003; Fallini et al., 2016
|