| Entry |
|
|---|
| Name |
Mutation-caused aberrant PSEN1 to anterograde axonal transport
|
|---|
| Definition |
PSEN1* -> GSK3B -| (KIF5+KLC) |
|---|
| Expanded |
5663v1 -> 2932 -| ((3798,3799,3800)+(3831,64837,147700,89953)) |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Pathway |
|
|---|
| Disease |
|
|---|
| Gene |
| 2932 | GSK3B; glycogen synthase kinase 3 beta |
| 3798 | KIF5A; kinesin family member 5A |
| 3799 | KIF5B; kinesin family member 5B |
| 3800 | KIF5C; kinesin family member 5C |
| 3831 | KLC1; kinesin light chain 1 |
| 64837 | KLC2; kinesin light chain 2 |
| 147700 | KLC3; kinesin light chain 3 |
| 89953 | KLC4; kinesin light chain 4 |
|
|---|
| Variant |
5663v1 (PSEN1*) PSEN1 mutation
|
|---|
| Reference |
|
|---|
| Authors |
Pigino G, Morfini G, Pelsman A, Mattson MP, Brady ST, Busciglio J |
|---|
| Title |
Alzheimer's presenilin 1 mutations impair kinesin-based axonal transport. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Roy S, Zhang B, Lee VM, Trojanowski JQ |
|---|
| Title |
Axonal transport defects: a common theme in neurodegenerative diseases. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Dolma K, Iacobucci GJ, Hong Zheng K, Shandilya J, Toska E, White JA 2nd, Spina E, Gunawardena S |
|---|
| Title |
Presenilin influences glycogen synthase kinase-3 beta (GSK-3beta) for kinesin-1 and dynein function during axonal transport. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Wang ZX, Tan L, Yu JT |
|---|
| Title |
Axonal transport defects in Alzheimer's disease. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
