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Suzanne Salvi

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Related publications (2)

Please note that this is not a complete list of this person’s publications. It includes only semantically relevant works. For a full list, please refer to Infoscience.

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Thomas Lemmin, Françoise Gisou van der Goot Grunberg, Suzanne Salvi, Matteo Dal Peraro, Shixu Yan

Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis. Sixty percent of patients carry frameshift mutations at a mutational hotspot in exon 13. We show in patient ...

Wiley-Blackwell2013

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

Nicolas Jean Philippe Guex, Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Julie Deuquet Ariosa, Suzanne Salvi

Hyaline Fibromatosis Syndrome (HIS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about ...

Wiley Open Access2011