Human STAT1 deficiencies di Ariane Chapgier edito da LAP Lambert Acad. Publ.
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Human STAT1 deficiencies

Description and characterisation of the different Human STAT1 deficiencies

EAN:

9783844301687

ISBN:

3844301682

Pagine:
136
Formato:
Paperback
Lingua:
Tedesco
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Descrizione Human STAT1 deficiencies

The Signal Transducer and Activator of Transcription 1 (STAT1) is activated in response to interferons (IFNs) stimulations. In response to IFN-¿, STAT1 homodimerizes to form the gamma activating factor (GAF). In response to IFN-¿, STAT1 heterotrimerizes with STAT2 and ISGF3-¿ to form the interferon sequence gene factor 3 (ISGF3). This work clearly demonstrates the distinct roles of the IFN-¿-induced-GAF complexes in anti-mycobacterial immunity and of IFN-¿ induced- ISGF3 complexes in the anti-viral immunity in humans at the cellular and clinical levels by different molecular mechanisms. It also highlights the fact that a phenotype depends of the mutation and not only of the affected gene; and moreover the importance of the homozygosis or heterozygosis state of the mutation in human genetic diseases.

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