International audience
-
October 2018 (v1)Journal articleUploaded on: December 4, 2022
-
January 15, 2015 (v1)Journal article
Andersen's syndrome (AS) is a rare and dominantly inherited pathology, linked to the inwardly rectifying potassium channel Kir2.1. AS patients exhibit a triad of symptoms that include periodic paralysis, cardiac dysrhythmia and bone malformations. Some progress has been made in understanding the contribution of the Kir2.1 channel to skeletal...
Uploaded on: March 26, 2023 -
2018 (v1)Journal article
Andersen's syndrome (AS) is a rare autosomal disorder that has been defined by the triad of periodic paralysis, cardiac arrhythmia, and developmental anomalies. AS has been directly linked to over 40 different autosomal dominant negative loss-of-function mutations in the KCNJ2 gene, encoding for the tetrameric strong inward rectifying K+...
Uploaded on: December 4, 2022 -
2018 (v1)Journal article
Mutations in Na V 1.4, the skeletal muscle voltage-gated Na + channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic substitution found in two unrelated...
Uploaded on: February 28, 2023 -
2016 (v1)Journal article
International audience
Uploaded on: December 4, 2022 -
December 2020 (v1)Journal article
Ubiquitination by serving as a major degradation signal of proteins, but also by controlling protein functioning and localization, plays critical roles in most key cellular processes. Here, we show that MITF, the master transcription factor in melanocytes, controls ubiquitination in melanoma cells. We identified FBXO32, a component of the SCF...
Uploaded on: December 4, 2022