Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. (Q38696809)

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25 March 2020

title

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

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25 March 2020

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2

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Carsten Posovszky

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25 March 2020

Prevost Jantchou

8

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25 March 2020

Michael W. Hess

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25 March 2020

author name string

Georg F Vogel

1

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25 March 2020

Iris M Krainer

3

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Andreas R Janecke

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Marta Cohen

6

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25 March 2020

Claire Searle

7

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25 March 2020

Johanna C Escher

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Natalie Patey

10

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25 March 2020

Ernest Cutz

11

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25 March 2020

Thomas Müller

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Sabine Middendorp

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Lukas A Huber

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publication date

20 July 2017

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25 March 2020

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25 March 2020

volume

2

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25 March 2020

issue

14

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describes a project that uses

25 March 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

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Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

6 September 2017

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Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

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6 September 2017

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25 September 2017

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23 June 2018

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Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations

31 August 2018

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31 August 2018

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Slp4-a/granuphilin-a interacts with syntaxin-2/3 in a Munc18-2-dependent manner.

31 August 2018

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Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

31 August 2018

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31 August 2018

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Microvillous inclusion disease: ultrastructural variability

3 December 2018

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12 December 2020

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

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12 December 2020

Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium

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12 December 2020

10.1172/JCI.INSIGHT.94564

Identifiers

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