The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

Mutations in the OCRL gene encoding the phosphatidylinositol 4,5-bisphosphate (PI(4,5)P(2)) 5-phosphatase OCRL cause Lowe syndrome (LS), which is characterized by intellectual disability, cataracts and selective proximal tubulopathy. OCRL localizes membrane-bound compartments and is implicated in in...

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Библиографические подробности
Главные авторы: van Rahden, Vanessa A., Brand, Kristina, Najm, Juliane, Heeren, Joerg, Pfeffer, Suzanne R., Braulke, Thomas, Kutsche, Kerstin
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2012
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3490508/
https://ncbi.nlm.nih.gov/pubmed/22907655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds343
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