Table 2.
Selected diseases discussed | OMIM # |
Drosophila genes discussed |
Loss of function NMJ phenotypes |
---|---|---|---|
Hereditary Spastic Paraplegia 3 | #182600 | Atlastin | more boutons, bouton clustering, satellite boutons, dense MT network, impaired movement |
Hereditary Spastic Paraplegia 4 | #182601 | Spastin | more boutons, bouton clustering, satellite boutons, dense MT network, impaired movement |
Hereditary Spastic Paraplegia 6 | #600363 | Spichthyin | more boutons, bouton clustering, dense MT network |
Multiple Sclerosis | #126200 | Ema | more boutons, increased synaptic area, enlarged endosomes |
Huntington's Disease | #143100 | CIP4 | more boutons, satellite boutons, increased synaptic area |
Amyotrophic Lateral Sclerosis 8 | #608627 | Vap-33-1 | fewer and larger boutons, severely disorganized and fragmented MT network |
Spinal Muscular Atrophy I, II, III | #253300, #253550, #253400 | Smn | fewer and larger boutons |