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CALLEBAUT , Isabelle

Last name: CALLEBAUT

First name: Isabelle

2017 (v1)

Publication

Metadata-only

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Melki, Isabelle Rose, Yoann Uggenti, Carolina

Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type I interferonopathy called STING-associated vasculopathy with onset in infancy (SAVI). Objectives We sought to define the molecular and cellular pathology relating to 3 individuals...

Uploaded on: April 14, 2023
2010 (v1)

Journal article

Metadata-only

Delineation of the Xrcc4-interacting region in the globular head domain of Cernunnos/XLF

Malivert, Laurent Ropars, Virginie Nunez, Marcela

In mammals, the majority of DNA double-strand breaks are processed by the Non Homologous End-Joining pathway (NHEJ), composed of seven factors: Ku70, Ku80, DNA-PKcs, Artemis, Xrcc4 (X4), DNA Ligase IV (L4) and Cernunnos/XLF. Cernunnos is part of the ligation complex, constituted by X4 and L4. In order to improve our knowledge on the structure...

Uploaded on: December 4, 2022