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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Publicado en:JCI Insight
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2017
Assuntos:
Research Article
Acceso en liña: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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