Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function (Q34598862)

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English	Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function	scientific article

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24 December 2019

Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function (English)

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24 December 2019

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24 December 2019

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24 December 2019

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Ramon Urrea Moreno

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24 December 2019

Juana Gil

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24 December 2019

Carmen Rodriguez-Sainz

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24 December 2019

Elena Cela

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24 December 2019

Victor LaFay

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24 December 2019

Brian Oloizia

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24 December 2019

Janos Sumegi

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24 December 2019

Michael B Jordan

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24 December 2019

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16 October 2008

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24 December 2019

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9

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24 December 2019

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24 December 2019

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24 December 2019

338-346

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24 December 2019

The MACPF/CDC family of pore-forming toxins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

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

1 reference

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7 July 2018

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Calcium-dependent plasma membrane binding and cell lysis by perforin are mediated through its C2 domain: A critical role for aspartate residues 429, 435, 483, and 485 but not 491.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Delivering the kiss of death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

C2-domains, structure and function of a universal Ca2+-binding domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

The C2 domain calcium-binding motif: structural and functional diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Characteristic immune abnormalities in hemophagocytic lymphohistiocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Extending the C2 domain family: C2s in PKCs delta, epsilon, eta, theta, phospholipases, GAPs, and perforin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Structure and biogenesis of lytic granules.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Serial killing by cytotoxic T lymphocytes: T cell receptor triggers degranulation, re-filling of the lytic granules and secretion of lytic proteins via a non-granule pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Cytolytic activity of purified cytoplasmic granules from cytotoxic rat large granular lymphocyte tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Liposomes as targets for granule cytolysin from cytotoxic large granular lymphocyte tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Cytolytic T cell granules. Isolation, structural, biochemical, and functional characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

A noncytotoxic mast cell tumor line exhibits potent IgE-dependent cytotoxicity after transfection with the cytolysin/perforin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

7 July 2018

Detection of functional cell surface perforin by flow cytometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

26 October 2018

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

26 October 2018

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

26 October 2018

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

26 October 2018

Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615650

9 December 2018

Cytotoxicity with target DNA breakdown by rat basophilic leukemia cells expressing both cytolysin and granzyme A

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18927437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2008-08-172924

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24 December 2019

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24 December 2019

PubMed publication ID

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24 December 2019

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