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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Détails bibliographiques
Publié dans:JCI Insight
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2017
Sujets:
Research Article
Accès en ligne: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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