Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
Andrea Ballabio(Baylor College of Medicine), Generoso Andria(Federico II University Hospital), M.A. Ferguson‐Smith(Australian Research Council), Rosalba Carrozzo(Bambino Gesù Children's Hospital), A. Gil(Institute of Genetics and Biophysics), Elizabeth F. Gillard(University of Cambridge), John R.W. Yates(University of Cambridge), M. Graziella Persico(Institute of Genetics and Biophysics), Nabeel A. Affara(University of Cambridge), Aldur W. Eriksson(Vrije Universiteit Amsterdam), Giancarlo Parenti(European School of Molecular Medicine), Rune R. Frants(Leiden University), Massimo Zollo(307th Hospital of Chinese People’s Liberation Army)
Cited by 102
Related Papers
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
|Autophagy|2008|2k
A lysosome‐to‐nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
|The EMBO Journal|2012|1.9k
Synergism between vascular endothelial growth factor and placental growth factor contributes to angiogenesis and plasma extravasation in pathological conditions
|Nature Medicine|2001|1.7k
Molecular definitions of autophagy and related processes
|The EMBO Journal|2017|1.6k
Autophagy in major human diseases
|The EMBO Journal|2021|1.6k