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Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome
Low density lipoprotein receptor (LDLR) family members are involved in signaling in the developing brain. Previously we have reported that missense mutations in the Very Low Density Lipoprotein Receptor gene (VLDLR), causing Dysequilibrium syndrome (DES), disrupt ligand-binding, due to endoplasmic r...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785505/ https://www.ncbi.nlm.nih.gov/pubmed/29371607 http://dx.doi.org/10.1038/s41598-017-19053-8 |