Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-019-1131-4.pdf
Reference35 articles.
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3. Zhou X, Zhao G, Truglio JJ, Wang L, Li G, Lennarz WJ, et al. Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module. Proc Natl Acad Sci U S A. 2006;103(46):17214–9.
4. McCracken AA, Brodsky JL. Assembly of ER-associated protein degradation in vitro: dependence on cytosol, calnexin, and ATP. J Cell Biol. 1996;132(3):291–8.
5. Park H, Suzuki T, Lennarz WJ. Identification of proteins that interact with mammalian peptide: N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation. Proc Natl Acad Sci U S A. 2001;98(20):11163–8.
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