A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

(2013) Anita E. Beck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

(2013) S. Shrimal et al.   HUMAN MOLECULAR GENETICS

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

(2012) Melanie A. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy

(2012) Marie-Estelle Losfeld et al.   FASEB JOURNAL

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Mechanisms and principles of N-linked protein glycosylation

(2011) Flavio Schwarz et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY