INMACULADA
SERRAMITO GÓMEZ
Investigadora no período 2020-2022
Publicacións (8) Publicacións de INMACULADA SERRAMITO GÓMEZ
2023
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Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Blood, Vol. 141, Núm. 4, pp. 406-421
2022
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ATG16L1 WD40 domain-dependent IL10R (interleukin 10 receptor) signaling is insensitive to the T300A Crohn disease risk polymorphism
Autophagy, Vol. 18, Núm. 12, pp. 3023-3030
2021
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NEMHESYS - European Perspective on the Implementation of Next-generation Sequencing Into Clinical Diagnostics
HemaSphere, Vol. 5, Núm. 3, pp. E541
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Unconventional WD40 domain-dependent role of ATG16L1 in the regulation of IL10R (interleukin 10 receptor) endocytosis, trafficking and signaling
Autophagy
2020
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Regulation of cytokine signaling through direct interaction between cytokine receptors and the ATG16L1 WD40 domain
Nature Communications, Vol. 11, Núm. 1
2019
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Physical and functional interaction between A20 and ATG16L1-WD40 domain in the control of intestinal homeostasis
Nature Communications, Vol. 10, Núm. 1
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The anti-inflammatory protein TNFAIP3/A20 binds the WD40 domain of ATG16L1 to control the autophagic response, NFKB/NF-κB activation and intestinal homeostasis
Autophagy
2016
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The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1
Nature Communications, Vol. 7