Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Extreme C-terminal sites are posttranslocationally glycosylated by the STT3B isoform of the OST

(2013) Shiteshu Shrimal et al.   JOURNAL OF CELL BIOLOGY

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

Diseases of glycosylation beyond classical congenital disorders of glycosylation

(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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

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

Glycosylation disorders of membrane trafficking

(2012) Claire Rosnoblet et al.   GLYCOCONJUGATE JOURNAL

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

(2012) Gert Matthijs et al.   GLYCOCONJUGATE JOURNAL

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

STT3B-Dependent Posttranslational N-Glycosylation as a Surveillance System for Secretory Protein

(2012) Takashi Sato et al.   MOLECULAR CELL

Nogo-B receptor is necessary for cellular dolichol biosynthesis and proteinN-glycosylation

(2011) Kenneth D Harrison et al.   EMBO JOURNAL

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

(2011) Luisa Sturiale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cotranslational and Posttranslational N-Glycosylation of Polypeptides by Distinct Mammalian OST Isoforms

(2009) Catalina Ruiz-Canada et al.   CELL

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

(2008) Masoud Garshasbi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS