Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations

Familial hemophagocytic lymphohistiocytosis 5 (FHL5) is an autosomal recessive disease caused by mutations in STXBP2, coding for Munc18-2, which is required for SNARE-mediated membrane fusion. FHL5 causes hematologic and gastrointestinal symptoms characterized by chronic enteropathy that is reminisc...

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Vydáno v:JCI Insight
Hlavní autoři: Vogel, Georg F., van Rijn, Jorik M., Krainer, Iris M., Janecke, Andreas R., Posovzsky, Carsten, Cohen, Marta, Searle, Claire, Jantchou, Prevost, Escher, Johanna C., Patey, Natalie, Cutz, Ernest, Müller, Thomas, Middendorp, Sabine, Hess, Michael W., Huber, Lukas A.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2017
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518552/
https://ncbi.nlm.nih.gov/pubmed/28724787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.94564
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