A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+Signaling

ER-associated degradation: Protein quality control and beyond

(2014) Annamaria Ruggiano et al.   JOURNAL OF CELL BIOLOGY

Cleaning up in the endoplasmic reticulum: ubiquitin in charge

(2014) John C Christianson et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Perilous journey: a tour of the ubiquitin–proteasome system

(2014) Gary Kleiger et al.   TRENDS IN CELL BIOLOGY

RING-type E3 ligases: Master manipulators of E2 ubiquitin-conjugating enzymes and ubiquitination

(2013) Meredith B. Metzger et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Two Salt Bridges Differentially Contribute to the Maintenance of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Channel Function

(2013) Guiying Cui et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Loss ofERLIN2function leads to juvenile primary lateral sclerosis

(2012) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

(2012) Salma M. Wakil et al.   European Journal of Medical Genetics

Structural and functional conservation of key domains in InsP3 and ryanodine receptors

(2012) Min-Duk Seo et al.   NATURE

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

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

A Systematic Search for Endoplasmic Reticulum (ER) Membrane-associated RING Finger Proteins Identifies Nixin/ZNRF4 as a Regulator of Calnexin Stability and ER Homeostasis

(2011) Albert Neutzner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

The predator becomes the prey: regulating the ubiquitin system by ubiquitylation and degradation

(2011) Allan M. Weissman et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Role of Inositol 1,4,5-Trishosphate Receptors in Pathogenesis of Huntington’s Disease and Spinocerebellar Ataxias

(2011) Ilya Bezprozvanny   NEUROCHEMICAL RESEARCH

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

(2011) Anas M. Alazami et al.   NEUROGENETICS

RINGs hold the key to ubiquitin transfer

(2011) Rhesa Budhidarmo et al.   TRENDS IN BIOCHEMICAL SCIENCES

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

(2010) Paul N. Valdmanis et al.   BRAIN

Activated Inositol 1,4,5-Trisphosphate Receptors Are Modified by Homogeneous Lys-48- and Lys-63-linked Ubiquitin Chains, but Only Lys-48-linked Chains Are Required for Degradation

(2010) Danielle A. Sliter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inositol trisphosphate receptor Ca2+ release channels in neurological diseases

(2010) J. Kevin Foskett   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

N-glycosylation efficiency is determined by the distance to the C-terminus and the amino acid preceding an Asn-Ser-Thr sequon

(2010) Manuel Bañó-Polo et al.   PROTEIN SCIENCE

RING Domain E3 Ubiquitin Ligases

(2009) Raymond J. Deshaies et al.   Annual Review of Biochemistry

Recognition and Processing of Ubiquitin-Protein Conjugates by the Proteasome

(2009) Daniel Finley   Annual Review of Biochemistry

When worlds collide: IP3 receptors and the ERAD pathway

(2009) Richard J.H. Wojcikiewicz et al.   CELL CALCIUM

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

Building ubiquitin chains: E2 enzymes at work

(2009) Yihong Ye et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

(2008) Jeremy J. Moeller et al.   ACTA NEUROPATHOLOGICA

Mass Spectrometric Analysis of Type 1 Inositol 1,4,5-Trisphosphate Receptor Ubiquitination

(2008) Danielle A. Sliter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations at Arginine 352 Alter the Pore Architecture of CFTR

(2008) Guiying Cui et al.   JOURNAL OF MEMBRANE BIOLOGY