Therapeutics

Recombinant human transglutaminase 1 encapsulated into liposomes for treatment of transglutaminase-1-deficient autosomal recessive congenital ichthyosis

On 7 June 2013 orphan designation was granted by the European Commission for recombinant human transglutaminase 1 encapsulated into liposomes for the treatment of transglutaminase 1-deficient autosomal recessive congenital ichthyosis. EMA website

NEWS: a crowdfunding campaign https://www.comitatouffi.org has been set up by Elena Ravano Calheiros, the mother of twin daughters, both affected by the disease.

TG1-Liposomes

Disease models

ISG15 KO

Useful for studying antiviral responses
Ref: Mol Cell Biol Aug 2005, Vol 25(15) pp 6338-45 by Osiak et al. 

USP8 lox/lox
Useful for studying the roles of ubiquitin-dependent protein trafficking of membrane proteins
Ref: Mol Cell Biol Jul 2007, Vol 27, No. 13, pp 5029-39 by Niendorf et al.

USP18 knock-in (USP18^C61A/C61A)
Useful for studying the therapeutic inhibition of the enzymatic activity of USP18
Ref: Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1577-82 by Ketscher et al.