Table 2.
Autophagy genes and neurodevelopment
Gene | Type of gene mutation | Species | Phenotype | Ref |
---|---|---|---|---|
Ambra1 | KO | Mouse | Neural tube closure defect; imbalance in neuronal proliferation and differentiation | 32 |
Alfy | KO | Mouse | Abnormal development of interhemispheric axon tracts (corpus callosum, anterior commissure, hippocampal commissure); failure of axons to respond to the axon guidance cue (Netrin-1); midline crossing defects | 33 |
Atg9 | Nervous system-specific KO | Mouse | Abnormal development of corpus callosum and anterior commissure | 34 |
Wdr47 | KO | Mouse | Abnormal development of corpus callosum | 35 |
Atg1 | P-element insertion and imprecise excision of the locus | Drosophila | Defective axonal transport of synaptic vesicle precursors; presynaptic assembly deficits at the neuromuscular junction (NMJ); reduced number of synaptic boutons and smaller size of NMJ | 36,37 |
Atg1, Atg2, Atg18 | P-element insertion and imprecise excision of the locus | Drosophila | Presynaptic assembly deficits at NMJ; reduced number of synaptic boutons and smaller size of NMJ | 38 |
Atg9 | EMS-induced point mutations | C. elegans | Defective clustering of synaptic vesicles in presynaptic specializations | 39 |
Atg7 | Motor neuron-specific KO | Mouse | Accelerated neuromuscular denervation during early development in ALS model mice (SOD[G93A]); non-cell autonomous suppression of ALS-related phenotypes at later stages of disease progression in SOD[G93A] mice | 40 |
Tsc2 | Heterozygous KO | Mouse | Developmental spine pruning defects; excessive dendritic spines in cortical pyramidal neurons | 41 |