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Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia
| Content Provider | MDPI |
|---|---|
| Author | Mohan, Neha Qiang, Liang Morfini, Gerardo Baas, Peter W. |
| Copyright Year | 2021 |
| Description | Mutations of the SPAST gene that encodes the microtubule-severing enzyme called spastin are the chief cause of Hereditary Spastic Paraplegia. Growing evidence indicates that pathogenic mutations functionally compromise the spastin protein and endow it with toxic gain-of-function properties. With each of these two factors potentially relevant to disease etiology, the present article discusses possible therapeutic strategies that may ameliorate symptoms in patients suffering from SPAST-based Hereditary Spastic Paraplegia, which is usually termed SPG4-HSP. |
| Starting Page | 1081 |
| e-ISSN | 20763425 |
| DOI | 10.3390/brainsci11081081 |
| Journal | Brain Sciences |
| Issue Number | 8 |
| Volume Number | 11 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2021-08-18 |
| Access Restriction | Open |
| Subject Keyword | Brain Sciences Hereditary Spastic Paraplegia Spastin Spast Microtubule Spg4-hsp Haploinsufficiency Loss-of-function Gain-of-function Gene Therapy Casein Kinase 2 Hdac6 Autophagy |
| Content Type | Text |
| Resource Type | Article |
