In press

Twists and turns of the genetic story of mevalonate kinase-associated diseases: a review
I Touitou
GENES DIS - 2021

 

2021 Voir une autre année ?

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I.
J Clin Med, 2021 Apr 7. pii: 1552. doi: 10.3390/jcm10081552. Epub 2021 Apr 7.
PubMed

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
Omarjee O, Mathieu AL, Quiniou G, Moreews M, Ainouze M, Frachette C, Melki I, Dumaine C, Gerfaud-Valentin M, Duquesne A, Kallinich T, Tahir Turanli E, Malcus C, Viel S, Pescarmona R, Georgin-Lavialle S, Jamilloux Y, Larbre JP, Sarrabay G, Magnotti F, Rice GI, Bleicher F, Reboulet J, Merabet S, Henry T, Crow YJ, Faure M, Walzer T, Belot A.
J Exp Med, 2021 Mar 1. pii: e20201006. doi: 10.1084/jem.20201006.
PubMed

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C, Méchin D, Sanchez E, Marinèche L, Ea V, Soler S, Vereecke M, Mallavialle A, Richard E, Duroux-Richard I, Apparailly F, Touitou I, Grandemange S.
Sci Rep, 2021 Feb 18. 11(1):4172. doi: 10.1038/s41598-021-83539-9. Epub 2021 Feb 18.
PubMed