Determining the mechanism of pathogenesis of mucolipidosis type IV and related lysosomal storage disorders for development of novel therapies
<p>Mucolipidosis type IV (MLIV) is a rare, autosomal recessive, neurodegenerative, lysosomal storage disorder. MLIV is caused by mutations in a gene (<em>MCOLN1</em>) encoding a TRP channel family member known as Mucolipin 1 or TRPML1. TRPML1 is a lysosomal transmembrane protein th...
| Главный автор: | |
|---|---|
| Другие авторы: | |
| Формат: | Диссертация |
| Язык: | English |
| Опубликовано: |
2014
|
| Предметы: |