Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. (Q44232479)

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scientific article published on 30 May 2012

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English	Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.	scientific article published on 30 May 2012

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1 February 2020

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity (English)

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1 February 2020

13

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1 February 2020

author name string

Flavia Guillem

1

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1 February 2020

Caroline Kannengiesser

2

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1 February 2020

Claire Oudin

3

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1 February 2020

Anne Lenoir

4

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1 February 2020

Pavle Matak

5

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1 February 2020

Jean Donadieu

6

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1 February 2020

Bertrand Isidor

7

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1 February 2020

Francoise Méchinaud

8

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1 February 2020

Patricia Aguilar-Martinez

9

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1 February 2020

Carole Beaumont

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1 February 2020

Sophie Vaulont

11

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1 February 2020

Bernard Grandchamp

12

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1 February 2020

publication date

30 May 2012

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33

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1 February 2020

1388-1396

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9

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1 February 2020

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Site-directed, Ligase-Independent Mutagenesis (SLIM): a single-tube methodology approaching 100% efficiency in 4 h.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

The serine protease TMPRSS6 is required to sense iron deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Immunoassay for human serum hepcidin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

BMP signaling modulates hepcidin expression in zebrafish embryos independent of hemojuvelin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Liver hemojuvelin protein levels in mice deficient in matriptase-2 (Tmprss6).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Regulation of TMPRSS6 by BMP6 and iron in human cells and mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

BMPER protein is a negative regulator of hepcidin and is up-regulated in hypotransferrinemic mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Identification of the first low-molecular-weight inhibitors of matriptase-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Proteolytic processing of the serine protease matriptase-2: identification of the cleavage sites required for its autocatalytic release from the cell surface

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Membrane-anchored serine proteases in vertebrate cell and developmental biology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Of mice and men: the iron age.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22116

21 January 2018

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