Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

(2013) Katrin Koehler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Golgi-situated endoplasmic reticulum α-1, 2-mannosidase contributes to the retrieval of ERAD substrates through a direct interaction with γ-COP

(2013) Shujuan Pan et al.   MOLECULAR BIOLOGY OF THE CELL

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

A plant peptide: N-glycanase orthologue facilitates glycoprotein ER-associated degradation in yeast

(2012) Yuki Masahara-Negishi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Molecular and structural basis for N-glycan-dependent determination of glycoprotein fates in cells

(2012) Yukiko Kamiya et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Identification and characterization of peptide: N- glycanase from Dictyostelium discoideum

(2012) Anuradha Gosain et al.   BMC BIOCHEMISTRY

NMR characterization of the interaction between the PUB domain of peptide:N-glycanase and ubiquitin-like domain of HR23

(2012) Yukiko Kamiya et al.   FEBS LETTERS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

(2011) Muhammad Arshad Rafiq et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

RNF170 Protein, an Endoplasmic Reticulum Membrane Ubiquitin Ligase, Mediates Inositol 1,4,5-Trisphosphate Receptor Ubiquitination and Degradation

(2011) Justine P. Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Golgi localization of ERManI defines spatial separation of the mammalian glycoprotein quality control system

(2011) Shujuan Pan et al.   MOLECULAR BIOLOGY OF THE CELL

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

(2011) Anas M. Alazami et al.   NEUROGENETICS

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

(2010) Paul N. Valdmanis et al.   BRAIN

The N-Glycanase png-1 Acts to Limit Axon Branching during Organ Formation in Caenorhabditis elegans

(2010) N. Habibi-Babadi et al.   JOURNAL OF NEUROSCIENCE

An Endoplasmic Reticulum (ER) Membrane Complex Composed of SPFH1 and SPFH2 Mediates the ER-associated Degradation of Inositol 1,4,5-Trisphosphate Receptors

(2009) Margaret M. P. Pearce et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular identification and characterization of peptide: N-glycanase from Schizosaccharomyces pombe

(2008) Fengxue Xin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS