Literature for peptidase S01.308: matriptase-2
(Topics flags: A Assay, M Mutation, P Specificity, I Inhibitor, K Knockout, V Review. To select only the references relevant to a single topic, click the link above. See explanation.)
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Huang,D.W., He,G.Q., Guo,X., Wan,Z., Gao,J. and Yang,R.
Iron-Refractory Iron Deficiency Anemia with Novel TMPRSS6 Mutation
Indian J Pediatr91, 311-311. PubMed Europe PubMed DOI -
Zuo,Y., Bai,J., Bai,H., Tian,S., Sun,H., Shi,Z., Yu,P., Gao,G., Li,Y. and Chang,Y.Z.
Transmembrane serine protease 6, a novel target for inhibition of neuronal tumor growth
Cell Death Dis15, 49-49. PubMed Europe PubMed DOI -
Al-Jamea,L.H., Woodman,A., Heiba,M., Elshazly,S.A., Ben Khalaf,N., Al-Yami,F.S., Bilal Waheed,K., Al Mutair,A., Alsedi,A., Quiambao,J.V., Alzahrani,F.M., Albaqami,W.F., Al Qahtani,F.H., Mohammed Aljarah,N., Fathallah,D.M. and Halim Deifalla,A.
TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia
Gene851, 146977-146977. PubMed Europe PubMed DOI -
Wu,Q., Li,S., Zhang,X. and Dong,N.
Type II Transmembrane Serine Proteases as Modulators in Adipose Tissue Phenotype and Function
Biomedicines11, PubMed Europe PubMed DOI V -
Dion,S.P., Desilets,A., Lemieux,G. and Leduc,R.
Functionally impaired isoforms regulate TMPRSS6 proteolytic activity
PLoS ONE17, e0273825-e0273825. PubMed Europe PubMed DOI -
Schmidt,P.J., Fitzgerald,K., Butler,J.S. and Fleming,M.D.
Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model
Am J Hematol96, 251-257. PubMed Europe PubMed DOI K -
Vadolas,J., Ng,G.Z., Kysenius,K., Crouch,P.J., Dames,S., Eisermann,M., Nualkaew,T., Vilcassim,S., Schaeper,U. and Grigoriadis,G.
SLN124, a GalNac-siRNA targeting transmembrane serine protease 6, in combination with deferiprone therapy reduces ineffective erythropoiesis and hepatic iron-overload in a mouse model of beta-thalassaemia
Br J Haematol PubMed Europe PubMed DOI -
Belot,A., Gourbeyre,O., Palin,A., Rubio,A., Largounez,A., Besson-Fournier,C., Latour,C., Lorgouilloux,M., Gallitz,I., Montagner,A., Polizzi,A., Regnier,M., Smati,S., Zhang,A.S., Diaz-Munoz,M.D., Steinbicker,A.U., Guillou,H., Roth,M.P., Coppin,H. and Meynard,D.
Endoplasmic reticulum stress controls iron metabolism through TMPRSS6 repression and hepcidin mRNA stabilization by RNA-binding protein HuR
Haematologica PubMed Europe PubMed DOI -
Cakmakli,S., Kaplan,C., Uzunoglu,M., Buyukbayram,M., Gorgulu,E., Zarif,N.O. and Keskin,E.Y.
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings
Turk J Pediatr62, 103-108. PubMed Europe PubMed DOI M -
Enns,C.A., Jue,S. and Zhang,A.S.
The ectodomain of matriptase-2 plays an important non-proteolytic role in suppressing hepcidin expression in mice
Blood PubMed Europe PubMed DOI -
Paszti-Gere,E., Szombath,G., Gutschow,M., Steinmetzer,T. and Szekacs,A.
3-Amidinophenylalanine-derived matriptase inhibitors can modulate hepcidin production in vitro
Naunyn Schmiedebergs Arch Pharmacol393, 511-520. PubMed Europe PubMed DOI I -
Beliveau,F., Tarkar,A., Dion,S.P., Desilets,A., Ghinet,M.G., Boudreault,P.L., St-Georges,C., Marsault,E., Paone,D., Collins,J., Macphee,C.H., Campobasso,N., Groy,A., Cottom,J., Ouellette,M., Pope,A.J. and Leduc,R.
Discovery and development of TMPRSS6 inhibitors modulating hepcidin levels in human hepatocytes
Cell Chem Biol26, 1559-1572. PubMed Europe PubMed DOI I -
Damalanka,V.C. and Janetka,J.W.
Recent progress on inhibitors of the type II transmembrane serine proteases, hepsin, matriptase and matriptase-2
Future Med Chem11, 743-769. PubMed Europe PubMed DOI I -
Mao,P., Wortham,A.M., Enns,C.A. and Zhang,A.S.
The catalytic, stem, and transmembrane portions of matriptase-2 are required for suppressing the expression of the iron-regulatory hormone hepcidin
J Biol Chem294, 2060-2073. PubMed Europe PubMed DOI -
Dion,S.P., Beliveau,F., Desilets,A., Ghinet,M.G. and Leduc,R.
Transcriptome analysis reveals TMPRSS6 isoforms with distinct functionalities
J Cell Mol Med22, 2498-2509. PubMed Europe PubMed DOI -
Folgueras,A.R., Freitas-Rodriguez,S., Ramsay,A.J., Garabaya,C., Rodriguez,F., Velasco,G. and Lopez-Otin,C.
Matriptase-2 deficiency protects from obesity by modulating iron homeostasis
Nat Commun9, 1350-1350. PubMed Europe PubMed DOI M -
Gitlin-Domagalska,A., Mangold,M., Debowski,D., Ptaszynska,N., Legowska,A., Gutschow,M. and Rolka,K.
Matriptase-2: monitoring and inhibiting its proteolytic activity
Future Med Chem10, 2745-2761. PubMed Europe PubMed DOI I -
Mangold,M., Gutschow,M. and Stirnberg,M.
A short peptide inhibitor as an activity-based probe for matriptase-2
Pharmaceuticals (Basel)11, PubMed Europe PubMed DOI I -
Gitlin-Domagalska,A., Debowski,D., Legowska,A., Stirnberg,M., Okonska,J., Gutschow,M. and Rolka,K.
Design and chemical syntheses of potent matriptase-2 inhibitors based on trypsin inhibitor SFTI-1 isolated from sunflower seeds
Biopolymers108, PubMed Europe PubMed DOI I -
Pinto,J., Nobre de Jesus,G., Palma Anselmo,M., Goncalves,L., Bras,D., Madeira Lopes,J., Meneses,J., Victorino,R. and Faustino,P.
Iron refractory iron deficiency anemia in dizygotic twins due to a novel TMPRSS6 gene mutation in addition to polymorphisms associated with high susceptibility to develop ferropenic anemia
J Investig Med High Impact Case Rep5, 2324709617701776-2324709617701776. PubMed Europe PubMed DOI M -
St-Georges,C., Desilets,A., Beliveau,F., Ghinet,M., Dion,S.P., Colombo,E., Boudreault,P.L., Najmanovich,R.J., Leduc,R. and Marsault,E.
Modulating the selectivity of matriptase-2 inhibitors with unnatural amino acids
Eur J Med Chem129, 110-123. PubMed Europe PubMed DOI I -
Wahedi,M., Wortham,A.M., Kleven,M.D., Zhao,N., Jue,S., Enns,C.A. and Zhang,A.S.
Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway
J Biol Chem292, 18354-18371. PubMed Europe PubMed DOI -
Beckmann,A.M., Maurer,E., Lulsdorff,V., Wilms,A., Furtmann,N., Bajorath,J., Gutschow,M. and Stirnberg,M.
En route to new therapeutic options for iron overload diseases: matriptase-2 as a target for Kunitz-type inhibitors
Chembiochem17, 595-604. PubMed Europe PubMed DOI -
Beckmann,A.M., Glebov,K., Walter,J., Merkel,O., Mangold,M., Schmidt,F., Becker-Pauly,C., Gutschow,M. and Stirnberg,M.
The intact Kunitz domain protects the amyloid precursor protein from being processed by matriptase-2
Biol Chem397, 777-790. PubMed Europe PubMed DOI -
Beckmann,A.M., Gilberg,E., Gattner,S., Huang,T.L., Vanden Eynde,J.J., Mayence,A., Bajorath,J., Stirnberg,M. and Gutschow,M.
Evaluation of bisbenzamidines as inhibitors for matriptase-2
Bioorg Med Chem Lett26, 3741-3745. PubMed Europe PubMed DOI I -
Haussler,D., Mangold,M., Furtmann,N., Braune,A., Blaut,M., Bajorath,J., Stirnberg,M. and Gutschow,M.
Back cover: Phosphono bisbenzguanidines as irreversible dipeptidomimetic inhibitors and activity-based probes of matriptase-2 (Chem. Eur. J. 25/2016)
Chemistry22, 8704- DOI I -
Sal,E., Keskin,E.Y., Yenicesu,I., Bruno,M. and De Falco,L.
Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations
Pediatr Hematol Oncol33, 226-232. PubMed Europe PubMed DOI M -
Gitlin,A., Debowski,D., Karna,N., Legowska,A., Stirnberg,M., Gutschow,M. and Rolka,K.
Inhibitors of matriptase-2 based on the trypsin inhibitor SFTI-1
Chembiochem16, 1601-1607. PubMed Europe PubMed DOI -
Jackle,F., Schmidt,F., Wichert,R., Arnold,P., Prox,J., Mangold,M., Ohler,A., Pietrzik,C.U., Koudelka,T., Tholey,A., Gutschow,M., Stirnberg,M. and Becker-Pauly,C.
Metalloprotease meprin beta is activated by transmembrane serine protease matriptase-2 at the cell surface thereby enhancing APP shedding
Biochem J470, 91-103. PubMed Europe PubMed DOI -
McDonald,C.J., Ostini,L., Bennett,N.C., Subramaniam,N., Hooper,J., Velasco,G., Wallace,D.F. and Subramaniam,V.N.
Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia
Am J Physiol Cell Physiol308, 539-547. PubMed Europe PubMed DOI M -
Poggiali,E., Andreozzi,F., Nava,I., Consonni,D., Graziadei,G. and Cappellini,M.D.
The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment
Am J Hematol90, 306-309. PubMed Europe PubMed DOI M -
Rausa,M., Ghitti,M., Pagani,A., Nai,A., Campanella,A., Musco,G., Camaschella,C. and Silvestri,L.
Identification of TMPRSS6 cleavage sites of hemojuvelin
J Cell Mol Med19, 879-888. PubMed Europe PubMed DOI P -
Schmidt,P.J., Racie,T., Westerman,M., Fitzgerald,K., Butler,J.S. and Fleming,M.D.
Combination therapy with a Tmprss6 RNAi-therapeutic and the oral iron chelator deferiprone additively diminishes secondary iron overload in a mouse model of beta-thalassemia intermedia
Am J Hematol90, 310-313. PubMed Europe PubMed DOI K -
Stirnberg,M., Maurer,E., Arenz,K., Babler,A., Jahnen-Dechent,W. and Gutschow,M.
Cell surface serine protease matriptase-2 suppresses fetuin-A/AHSG-mediated induction of hepcidin
Biol Chem396, 81-93. PubMed Europe PubMed DOI -
Barre,O., Dufour,A., Eckhard,U., Kappelhoff,R., Beliveau,F., Leduc,R. and Overall,C.M.
Cleavage specificity analysis of six type II transmembrane serine proteases (TTSPs) using PICS with proteome-derived peptide libraries
PLoS ONE9, e105984-e105984. PubMed Europe PubMed DOI P -
De Falco,L., Silvestri,L., Kannengiesser,C., Moran,E., Oudin,C., Rausa,M., Bruno,M., Aranda,J., Argiles,B., Yenicesu,I., Falcon-Rodriguez,M., Yilmaz-Keskin,E., Kocak,U., Beaumont,C., Camaschella,C., Iolascon,A., Grandchamp,B. and Sanchez,M.
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies
Hum Mutat35, 1321-1329. PubMed Europe PubMed DOI M -
Duchene,D., Colombo,E., Desilets,A., Boudreault,P.L., Leduc,R., Marsault,E. and Najmanovich,R.
Analysis of subpocket selectivity and identification of potent selective inhibitors for matriptase and matriptase-2
J Med Chem57, 10198-10204. PubMed Europe PubMed DOI I -
Gnana-Prakasam,J.P., Baldowski,R.B., Ananth,S., Martin,P.M., Smith,S.B. and Ganapathy,V.
Retinal expression of the serine protease matriptase-2 (tmprss6) and its role in retinal iron homeostasis
Mol Vision20, 561-574. PubMed Europe PubMed -
Jiang,J., Yang,J., Feng,P., Zuo,B., Dong,N., Wu,Q. and He,Y.
N-glycosylation is required for matriptase-2 autoactivation and ectodomain shedding
J Biol Chem289, 19500-19507. PubMed Europe PubMed DOI -
Nai,A., Pellegrino,R.M., Rausa,M., Pagani,A., Boero,M., Silvestri,L., Saglio,G., Roetto,A. and Camaschella,C.
The erythroid function of transferrin receptor 2 revealed by TMPRSS6 inactivation in different models of transferrin receptor 2 knockout mice
Haematologica99, 1016-1021. PubMed Europe PubMed DOI K -
Wang,C.Y., Meynard,D. and Lin,H.Y.
The role of TMPRSS6/matriptase-2 in iron regulation and anemia
Front Pharmacol5, 114-114. PubMed Europe PubMed DOI V -
Willemetz,A., Lenoir,A., Deschemin,J.C., Lopez-Otin,C., Ramsay,A.J., Vaulont,S. and Nicolas,G.
Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis
Blood124, 441-444. PubMed Europe PubMed DOI -
Wysocka,M., Gruba,N., Miecznikowska,A., Popow-Stellmaszyk,J., Gutschow,M., Stirnberg,M., Furtmann,N., Bajorath,J., Lesner,A. and Rolka,K.
Substrate specificity of human matriptase-2
Biochimie97, 121-127. PubMed Europe PubMed DOI P -
Bartnikas,T.B., Steinbicker,A.U., Campagna,D.R., Blevins,S., Woodward,L.S., Herrera,C., Bloch,K.D., Justice,M.J. and Fleming,M.D.
Identification and characterization of a novel murine allele of Tmprss6
Haematologica98, 854-861. PubMed Europe PubMed DOI M -
De Falco,L., Sanchez,M., Silvestri,L., Kannengiesser,C., Muckenthaler,M.U., Iolascon,A., Gouya,L., Camaschella,C. and Beaumont,C.
Iron refractory iron deficiency anemia
Haematologica98, 845-853. PubMed Europe PubMed DOI M -
Guo,S., Casu,C., Gardenghi,S., Booten,S., Aghajan,M., Peralta,R., Watt,A., Freier,S., Monia,B.P. and Rivella,S.
Reducing TMPRSS6 ameliorates hemochromatosis and beta-thalassemia in mice
J Clin Invest123, 1531-1541. PubMed Europe PubMed DOI K -
Jaspers,A., Caers,J., Le Gac,G., Ferec,C., Beguin,Y. and Fillet,G.
A novel mutation in the CUB sequence of matriptase-2 (Tmprss6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)
Br J Haematol160, 564-565. PubMed Europe PubMed DOI M -
Maurer,E., Gutschow,M. and Stirnberg,M.
Hepatocyte growth factor activator inhibitor type 2 (HAI-2) modulates hepcidin expression by inhibiting the cell surface protease matriptase-2
Biochem J450, 583-593. PubMed Europe PubMed DOI -
Roetto,A. and Porto,G.
A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia - response to Jaspers etal
Br J Haematol160, 566-567. PubMed Europe PubMed DOI M -
Schmidt,P.J., Toudjarska,I., Sendamarai,A.K., Racie,T., Milstein,S., Bettencourt,B.R., Hettinger,J., Bumcrot,D. and Fleming,M.D.
An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine beta-thalassemia intermedia
Blood121, 1200-1208. PubMed Europe PubMed DOI K -
Stirnberg,M. and Gutschow,M.
Matriptase-2, a regulatory protease of iron homeostasis: possible substrates, cleavage sites and inhibitors
Curr Pharm Des19, 1052-1061. PubMed Europe PubMed -
Tuhkanen,H., Hartikainen,J.M., Soini,Y., Velasco,G., Sironen,R., Nykopp,T.K., Kataja,V., Eskelinen,M., Kosma,V.M. and Mannermaa,A.
Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer
Int J Cancer133, 2334-2340. PubMed Europe PubMed DOI M -
Webb,S.L., Sanders,A.J., Mason,M.D. and Jiang,W.G.
Matriptase-2 inhibits HECV motility and tubule formation in vitro and tumour angiogenesis in vivo
Mol Cell Biochem375, 207-217. PubMed Europe PubMed DOI -
Choi,H.S., Yang,H.R., Song,S.H., Seo,J.Y., Lee,K.O. and Kim,H.J.
A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia
Pediatr Blood Cancer58, 640-642. PubMed Europe PubMed DOI M -
Dosa,S., Stirnberg,M., Lulsdorff,V., Haussler,D., Maurer,E. and Gutschow,M.
Active site mapping of trypsin, thrombin and matriptase-2 by sulfamoyl benzamidines
Bioorg Med Chem20, 6489-6505. PubMed Europe PubMed DOI I -
Guillem,F., Kannengiesser,C., Oudin,C., Lenoir,A., Matak,P., Donadieu,J., Isidor,B., Mechinaud,F., Aguilar-Martinez,P., Beaumont,C., Vaulont,S., Grandchamp,B. and Nicolas,G.
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity
Hum Mutat33, 1388-1396. PubMed Europe PubMed DOI M -
Maurer,E., Sisay,M.T., Stirnberg,M., Steinmetzer,T., Bajorath,J. and Gutschow,M.
Insights into matriptase-2 substrate binding and inhibition mechanisms by analyzing active-site-mutated variants
ChemMedChem7, 68-72. PubMed Europe PubMed DOI -
Ramsay,A.J., Kwarciak,A., Hooper,J.D., Lopez-Otin,C. and Velasco,G.
Matriptase-2
[ISSN:978-0-12-407742-3]3, 2975-2983. DOI -
Antalis,T.M., Bugge,T.H. and Wu,Q.
Membrane-anchored serine proteases in health and disease
Prog Mol Biol Transl Sci99, 1-50. PubMed Europe PubMed DOI V -
Beliveau,F., Brule,C., Desilets,A., Zimmerman,B., Laporte,S.A., Lavoie,C.L. and Leduc,R.
Essential role of endocytosis of the type II transmembrane serine protease TMPRSS6 in regulating its functionality
J Biol Chem286, 29035-29043. PubMed Europe PubMed DOI -
Finberg,K.E., Whittlesey,R.L. and Andrews,N.C.
Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice
Blood117, 4590-4599. PubMed Europe PubMed DOI M -
Krijt,J., Fujikura,Y., Ramsay,A.J., Velasco,G. and Necas,E.
Liver hemojuvelin protein levels in mice deficient in matriptase-2 (Tmprss6)
Blood Cells Mol Dis47, 133-137. PubMed Europe PubMed DOI -
Lenoir,A., Deschemin,J.C., Kautz,L., Ramsay,A.J., Roth,M.P., Lopez-Otin,C., Vaulont,S. and Nicolas,G.
Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6
Blood117, 647-650. PubMed Europe PubMed DOI -
Nai,A., Pagani,A., Silvestri,L., Campostrini,N., Corbella,M., Girelli,D., Traglia,M., Toniolo,D. and Camaschella,C.
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
Blood118, 4459-4462. PubMed Europe PubMed DOI -
Sato,T., Iyama,S., Murase,K., Kamihara,Y., Ono,K., Kikuchi,S., Takada,K., Miyanishi,K., Sato,Y., Takimoto,R., Kobune,M. and Kato,J.
Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia
Int J Hematol94, 101-103. PubMed Europe PubMed DOI M -
Webb,S.L., Sanders,A.J., Mason,M.D. and Jiang,W.G.
Type II transmembrane serine protease (TTSP) deregulation in cancer
Front Biosci16, 539-552. PubMed Europe PubMed V -
Altamura,S., D'Alessio,F., Selle,B. and Muckenthaler,M.U.
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
Biochem J431, 363-371. PubMed Europe PubMed DOI M -
Cuijpers,M.L., Wiegerinck,E.T., Brouwer,R., de Witte,T.J. and Swinkels,D.W.
[Iron deficiency anaemia due to a matriptase-2 mutation]
Ned Tijdschr Geneeskd154, A1038-A1038. PubMed Europe PubMed M -
De Falco,L., Totaro,F., Nai,A., Pagani,A., Girelli,D., Silvestri,L., Piscopo,C., Campostrini,N., Dufour,C., Al Manjomi,F., Minkov,M., Van Vuurden,D.G., Feliu,A., Kattamis,A., Camaschella,C. and Iolascon,A.
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
Hum Mutat31, E1390-E1405. PubMed Europe PubMed DOI M -
Finberg,K.E., Whittlesey,R.L., Fleming,M.D. and Andrews,N.C.
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis
Blood115, 3817-3826. PubMed Europe PubMed DOI M -
Sanders,A.J., Webb,S.L., Parr,C., Mason,M.D. and Jiang,W.G.
The type II transmembrane serine protease, matriptase-2: possible links to cancer?
Anticancer Agents Med Chem10, 64-69. PubMed Europe PubMed -
Sisay,M.T., Steinmetzer,T., Stirnberg,M., Maurer,E., Hammami,M., Bajorath,J. and Gutschow,M.
Identification of the first low-molecular-weight inhibitors of matriptase-2
J Med Chem53, 5523-5535. PubMed Europe PubMed DOI I -
Stirnberg,M., Maurer,E., Horstmeyer,A., Kolp,S., Frank,S., Bald,T., Arenz,K., Janzer,A., Prager,K., Wunderlich,P., Walter,J. and Gutschow,M.
Proteolytic processing of the serine protease matriptase-2: identification of the cleavage sites required for its autocatalytic release from the cell surface
Biochem J430, 87-95. PubMed Europe PubMed DOI -
Tanaka,T., Roy,C.N., Yao,W., Matteini,A., Semba,R.D., Arking,D., Walston,J.D., Fried,L.P., Singleton,A., Guralnik,J., Abecasis,G.R., Bandinelli,S., Longo,D.L. and Ferrucci,L.
A genome-wide association analysis of serum iron concentrations
Blood115, 94-96. PubMed Europe PubMed DOI -
Beliveau,F., Desilets,A. and Leduc,R.
Probing the substrate specificities of matriptase, matriptase-2, hepsin and DESC1 with internally quenched fluorescent peptides
FEBS J276, 2213-2226. PubMed Europe PubMed DOI A P -
Benyamin,B., Ferreira,M.A., Willemsen,G., Gordon,S., Middelberg,R.P., McEvoy,B.P., Hottenga,J.J., Henders,A.K., Campbell,M.J., Wallace,L., Frazer,I.H., Heath,A.C., de Geus,E.J., Nyholt,D.R., Visscher,P.M., Penninx,B.W., Boomsma,D.I., Martin,N.G., Montgomery,G.W. and Whitfield,J.B.
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
Nat Genet41, 1173-1175. PubMed Europe PubMed DOI M -
Chambers,J.C., Zhang,W., Li,Y., Sehmi,J., Wass,M.N., Zabaneh,D., Hoggart,C., Bayele,H., McCarthy,M.I., Peltonen,L., Freimer,N.B., Srai,S.K., Maxwell,P.H., Sternberg,M.J., Ruokonen,A., Abecasis,G., Jarvelin,M.R., Scott,J., Elliott,P. and Kooner,J.S.
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
Nat Genet41, 1170-1172. PubMed Europe PubMed DOI -
Cui,Y., Wu,Q. and Zhou,Y.
Iron-refractory iron deficiency anemia: new molecular mechanisms
Kidney Int76, 1137-1141. PubMed Europe PubMed DOI -
Edison,E.S., Athiyarath,R., Rajasekar,T., Westerman,M., Srivastava,A. and Chandy,M.
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
Br J Haematol147, 766-769. PubMed Europe PubMed DOI M -
Knutson,M.D.
Into the matrix: regulation of the iron regulatory hormone hepcidin by matriptase-2
Nutr Rev67, 284-288. PubMed Europe PubMed DOI -
Ramsay,A.J., Hooper,J.D., Folgueras,A.R., Velasco,G. and Lopez-Otin,C.
Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis
Haematologica94, 840-849. PubMed Europe PubMed DOI M -
Ramsay,A.J., Quesada,V., Sanchez,M., Garabaya,C., Sarda,M.P., Baiget,M., Remacha,A., Velasco,G. and Lopez-Otin,C.
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
Hum Mol Genet18, 3673-3683. PubMed Europe PubMed DOI M -
Silvestri,L., Guillem,F., Pagani,A., Nai,A., Oudin,C., Silva,M., Toutain,F., Kannengiesser,C., Beaumont,C., Camaschella,C. and Grandchamp,B.
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
Blood113, 5605-5608. PubMed Europe PubMed DOI M -
Tchou,I., Diepold,M., Pilotto,P.A., Swinkels,D., Neerman-Arbez,M. and Beris,P.
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia
Eur J Haematol83, 595-602. PubMed Europe PubMed DOI M -
Truksa,J., Gelbart,T., Peng,H., Beutler,E., Beutler,B. and Lee,P.
Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6
Br J Haematol147, 571-581. PubMed Europe PubMed DOI -
Du,X., She,E., Gelbart,T., Truksa,J., Lee,P., Xia,Y., Khovananth,K., Mudd,S., Mann,N., Moresco,E.M., Beutler,E. and Beutler,B.
The serine protease TMPRSS6 is required to sense iron deficiency
Science320, 1088-1092. PubMed Europe PubMed DOI M -
Finberg,K.E., Heeney,M.M., Campagna,D.R., Aydinok,Y., Pearson,H.A., Hartman,K.R., Mayo,M.M., Samuel,S.M., Strouse,J.J., Markianos,K., Andrews,N.C. and Fleming,M.D.
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Nat Genet40, 569-571. PubMed Europe PubMed DOI M -
Folgueras,A.R., de Lara,F.M., Pendas,A.M., Garabaya,C., Rodriguez,F., Astudillo,A., Bernal,T., Cabanillas,R., Lopez-Otin,C. and Velasco,G.
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