Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum–associated degradation

An intrinsic mechanism of secreted protein aging and turnover

(2015) Won Ho Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Remodeling the Proteostasis Network to Rescue Glucocerebrosidase Variants by Inhibiting ER-Associated Degradation and Enhancing ER Folding

(2013) Fan Wang et al.   PLoS One

Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

(2012) Kenichiro Yamada et al.   JOURNAL OF BIOCHEMISTRY

Selective Targeting of Proteins within Secretory Pathway for Endoplasmic Reticulum-associated Degradation

(2012) Lara Vecchi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Inhibition of Endoplasmic Reticulum-associated Degradation Rescues Native Folding in Loss of Function Protein Misfolding Diseases

(2011) Fan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Processing and turnover of the Hedgehog protein in the endoplasmic reticulum

(2011) Xin Chen et al.   JOURNAL OF CELL BIOLOGY

Efficient Detection of Proteins Retro-Translocated from the ER to the Cytosol by In Vivo Biotinylation

(2011) Gianluca Petris et al.   PLoS One

Chemical and Pharmacological Chaperones: Application for Recombinant Protein Production and Protein Folding Diseases

(2010) Rahul S. Rajan et al.   CURRENT MEDICINAL CHEMISTRY

Stringent requirement for HRD1, SEL1L, and OS-9/XTP3-B for disposal of ERAD-LSsubstrates

(2010) Riccardo Bernasconi et al.   JOURNAL OF CELL BIOLOGY

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

(2010) Etty Osher et al.   MOLECULAR GENETICS AND METABOLISM

In Search of a Solution to the Sphinx-Like Riddle of GM1

(2010) Robert W. Ledeen et al.   NEUROCHEMICAL RESEARCH

Human OS-9, a Lectin Required for Glycoprotein Endoplasmic Reticulum-associated Degradation, Recognizes Mannose-trimmedN-Glycans

(2009) Nobuko Hosokawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Getting In and Out from Calnexin/Calreticulin Cycles

(2008) Julio J. Caramelo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural consequences of amino acid substitutions causing Tay–Sachs disease

(2008) Kazuki Ohno et al.   MOLECULAR GENETICS AND METABOLISM

OS-9 and GRP94 deliver mutant α1-antitrypsin to the Hrd1–SEL1L ubiquitin ligase complex for ERAD

(2008) John C. Christianson et al.   NATURE CELL BIOLOGY

SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins

(2008) B. Mueller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA