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Differences in endoplasmic-reticulum quality control determine the cellular response to disease-associated mutants of proteolipid protein
Missense mutations in human PLP1, the gene encoding myelin proteolipid protein (PLP), cause dysmyelinating Pelizaeus-Merzbacher disease of varying severity. Although disease pathology has been linked to retention of misfolded PLP in the endoplasmic reticulum (ER) and induction of the unfolded protei...
Kaydedildi:
| Asıl Yazarlar: | , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Company of Biologists
2009
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2773193/ https://ncbi.nlm.nih.gov/pubmed/19825935 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.055160 |
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