(Q37474239)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24459464%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2 (English)

1 reference

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6 March 2020

2

1 reference

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6 March 2020

Bianca Tesi

4

1 reference

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6 March 2020

Daniel Nilsson

6

1 reference

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6 March 2020

Magnus Nordenskjöld

8

1 reference

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6 March 2020

Jan-Inge Henter

9

1 reference

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6 March 2020

Yenan Bryceson

11

1 reference

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6 March 2020

author name string

Martha-Lena Müller

1

1 reference

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6 March 2020

Marie Meeths

3

1 reference

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6 March 2020

Miriam Entesarian

5

1 reference

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6 March 2020

Stephanie M Wood

7

1 reference

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6 March 2020

Ahmed Naqvi

10

1 reference

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6 March 2020

publication date

14 January 2014

1 reference

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6 March 2020

published in

Frontiers in Immunology

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6 March 2020

volume

4

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6 March 2020

page(s)

515

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Syntaxin binding mechanism and disease-causing mutations in Munc18-2

6 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Syntaxin-1 N-peptide and Habc-domain perform distinct essential functions in synaptic vesicle fusion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Munc18-1 binds directly to the neuronal SNARE complex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Familial and acquired hemophagocytic lymphohistiocytosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Synergy among receptors on resting NK cells for the activation of natural cytotoxicity and cytokine secretion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Three-dimensional structure of an evolutionarily conserved N-terminal domain of syntaxin 1A

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

The expanding spectrum of hemophagocytic lymphohistiocytosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Syntaxin 11 binds Vti1b and regulates late endosome to lysosome fusion in macrophages.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Functionally and spatially distinct modes of munc18-syntaxin 1 interaction

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3890652

Familial and acquired hemophagocytic lymphohistiocytosis

2 September 2018

1 reference

12 December 2020

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

1 reference

12 December 2020

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

1 reference

12 December 2020

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America

1 reference

12 December 2020

Identifiers

DOI

10.3389/FIMMU.2013.00515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24459464%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

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6 March 2020

PubMed publication ID

24459464

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24459464%20AND%20SRC:MED&resulttype=core&format=json