(Q43745780)

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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

scientific article published on 4 February 2013

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scholarly article

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Europe PubMed Central

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26 November 2017

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

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Europe PubMed Central

PubMed publication ID

26 November 2017

familial hemophagocytic lymphohistiocytosis

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Klaus-Michael Debatin

13

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26 November 2017

Carsten Posovszky

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Carsten Posovszky

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Polina Stepensky

1

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26 November 2017

Jack Bartram

2

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Thomas F Barth

3

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26 November 2017

Kai Lehmberg

4

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26 November 2017

Paul Walther

5

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Kerstin Amann

6

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26 November 2017

Alan D Philips

7

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Ortraud Beringer

8

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26 November 2017

Udo Zur Stadt

9

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Ansgar Schulz

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26 November 2017

Persis Amrolia

11

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Michael Weintraub

12

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26 November 2017

Manfred Hoenig

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26 November 2017

publication date

4 February 2013

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26 November 2017

Pediatric Blood Cancer

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26 November 2017

60

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7

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1215-1222

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26 November 2017

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

The expanding spectrum of hemophagocytic lymphohistiocytosis

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https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Syntaxin 11 marks a distinct intracellular compartment recruited to the immunological synapse of NK cells to colocalize with cytotoxic granules

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Hemophagocytic lymphohistiocytosis and related disorders

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https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

A Novel Ubiquitous Form of Munc-18 Interacts with Multiple Syntaxins.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

A sec1-related vesicle-transport protein that is expressed predominantly in epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Molecular identification of two novel Munc-18 isoforms expressed in non-neuronal tissues

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Munc18-1 and Munc18-2 proteins modulate beta-cell Ca2+ sensitivity and kinetics of insulin exocytosis differently

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Autophagocytosis of the apical membrane in microvillus inclusion disease

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Acetylated sialic acid residues and blood group antigens localise within the epithelium in microvillous atrophy indicating internal accumulation of the glycocalyx

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Munc18-2, a functional partner of syntaxin 3, controls apical membrane trafficking in epithelial cells.

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome

1 reference

https://api.crossref.org/works/10.1002%2FPBC.24475

21 January 2018

Identifiers

10.1002/PBC.24475

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

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