A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Mapping cerebellar abiotrophy in Australian Kelpies

(2011) J. R. Shearman et al.   ANIMAL GENETICS

Protein folding stress in neurodegenerative diseases: a glimpse into the ER

(2011) Soledad Matus et al.   CURRENT OPINION IN CELL BIOLOGY

Update on degenerative ataxias

(2011) Thomas Klockgether   CURRENT OPINION IN NEUROLOGY

PSEUDOMARKER: A Powerful Program for Joint Linkage and/or Linkage Disequilibrium Analysis on Mixtures of Singletons and Related Individuals

(2011) Tero Hiekkalinna et al.   HUMAN HEREDITY

SEL1L Protein Critically Determines the Stability of the HRD1-SEL1L Endoplasmic Reticulum-associated Degradation (ERAD) Complex to Optimize the Degradation Kinetics of ERAD Substrates

(2011) Yasutaka Iida et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal recessive cerebellar ataxias: the current state of affairs

(2011) S. Vermeer et al.   JOURNAL OF MEDICAL GENETICS

A Truncated Retrotransposon Disrupts the GRM1 Coding Sequence in Coton de Tulear Dogs with Bandera's Neonatal Ataxia

(2011) R. Zeng et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Milestones in ataxia

(2011) Thomas Klockgether et al.   MOVEMENT DISORDERS

Secretion of Novel SEL1L Endogenous Variants Is Promoted by ER Stress/UPR via Endosomes and Shed Vesicles in Human Cancer Cells

(2011) Monica Cattaneo et al.   PLoS One

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

Deficiency of Suppressor Enhancer Lin12 1 Like (SEL1L) in Mice Leads to Systemic Endoplasmic Reticulum Stress and Embryonic Lethality

(2010) Adam B. Francisco et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hereditary Cerebellar Degeneration in Scottish Terriers

(2010) G. Urkasemsin et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Essential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosis

(2009) M Wang et al.   CELL DEATH AND DIFFERENTIATION

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

(2009) Antoni Matilla-Dueñas et al.   CEREBELLUM

Cerebellar ataxias

(2009) Mario Manto et al.   CURRENT OPINION IN NEUROLOGY

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco–Sjögren syndrome

(2009) Lihong Zhao et al.   HUMAN MOLECULAR GENETICS

Functional Characterization of Two Secreted SEL1L Isoforms Capable of Exporting Unassembled Substrate

(2009) Monica Cattaneo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

EDEM1 Recognition and Delivery of Misfolded Proteins to the SEL1L-Containing ERAD Complex

(2009) James H. Cormier et al.   MOLECULAR CELL

The ubiquitylation machinery of the endoplasmic reticulum

(2009) Christian Hirsch et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Pfam protein families database

(2009) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

A luminal flavoprotein in endoplasmic reticulum-associated degradation

(2009) J. Riemer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human XTP3-B Forms an Endoplasmic Reticulum Quality Control Scaffold with the HRD1-SEL1L Ubiquitin Ligase Complex and BiP

(2008) Nobuko Hosokawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Immunohistochemical localization of a ubiquitin ligase HRD1 in murine brain

(2008) Tomohiro Omura et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities

(2008) Inki Kim et al.   NATURE REVIEWS DRUG DISCOVERY

One step at a time: endoplasmic reticulum-associated degradation

(2008) Shruthi S. Vembar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction

(2008) Hwan-Ching Tai et al.   NATURE REVIEWS NEUROSCIENCE

SMART 6: recent updates and new developments

(2008) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

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