 | | NETWORK: N01719 | |
| Entry |
|
| Name |
Autophagy-vesicle nucleation/elongation/maturation, E3 ubiquitin-ligase Malin
|
| Definition |
(EPM2A+NHLRC1) -> (BECN1,PIK3C3,PIK3R4,ATG14,UVRAG) |
| Expanded |
(7957+378884) -> (8678,5289,30849,22863,7405) |
| Class |
|
| Type |
Reference
|
| Gene |
| 7957 | EPM2A; EPM2A glucan phosphatase, laforin |
| 378884 | NHLRC1; NHL repeat containing E3 ubiquitin protein ligase 1 |
| 5289 | PIK3C3; phosphatidylinositol 3-kinase catalytic subunit type 3 |
| 30849 | PIK3R4; phosphoinositide-3-kinase regulatory subunit 4 |
| 22863 | ATG14; autophagy related 14 |
| 7405 | UVRAG; UV radiation resistance associated |
|
| Reference |
|
| Authors |
Kumarasinghe L, Xiong L, Garcia-Gimeno MA, Lazzari E, Sanz P, Meroni G |
| Title |
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases. |
| Journal |
|
| Reference |
|
| Authors |
Sanchez-Martin P, Lahuerta M, Viana R, Knecht E, Sanz P |
| Title |
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. |
| Journal |
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| LinkDB |
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