An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of the cardiac muscle ryanodine receptor by glutathione transferases

(2011) Angela F. Dulhunty et al.   DRUG METABOLISM REVIEWS

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Cyclization of the Intrinsically Disordered α1SDihydropyridine Receptor II-III Loop Enhances Secondary Structure andin VitroFunction

(2011) Han-Shen Tae et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disrupting Function of FK506-Binding Protein 1b/12.6 Induces the Ca2+-Dysregulation Aging Phenotype in Hippocampal Neurons

(2011) J. C. Gant et al.   JOURNAL OF NEUROSCIENCE

Ryanodine Calcium Channel

(2011) Tarun Nagrani et al.   NEUROLOGIST

Accelerating Protein Docking in ZDOCK Using an Advanced 3D Convolution Library

(2011) Brian G. Pierce et al.   PLoS One

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics

(2011) Shawn Witham et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Voltage-Gated Calcium Channels

(2011) W. A. Catterall   Cold Spring Harbor Perspectives in Biology

The structure of the C-terminal helical bundle in glutathione transferase M2-2 determines its ability to inhibit the cardiac ryanodine receptor

(2010) Ruwani Hewawasam et al.   BIOCHEMICAL PHARMACOLOGY

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

(2010) C. von der Lippe et al.   European Journal of Medical Genetics

Computational analysis of missense mutations causing Snyder-Robinson syndrome

(2010) Zhe Zhang et al.   HUMAN MUTATION

NMDA-Mediated Ca2+ Influx Drives Aberrant Ryanodine Receptor Activation in Dendrites of Young Alzheimer's Disease Mice

(2010) I. Goussakov et al.   JOURNAL OF NEUROSCIENCE

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Ryanodine receptor channelopathies

(2010) Matthew J. Betzenhauser et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Modeling Effects of Human Single Nucleotide Polymorphisms on Protein-Protein Interactions

(2009) Shaolei Teng et al.   BIOPHYSICAL JOURNAL

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

Protein interactions involving the γ2 large cytoplasmic loop of GABAA receptors modulate conductance

(2009) Andrea B. Everitt et al.   FASEB JOURNAL

CLIC2-RyR1 Interaction and Structural Characterization by Cryo-electron Microscopy

(2009) Xing Meng et al.   JOURNAL OF MOLECULAR BIOLOGY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Redox Potential and the Response of Cardiac Ryanodine Receptors to CLIC-2, a Member of the Glutathione S-Transferase Structural Family

(2008) Chris Jalilian et al.   ANTIOXIDANTS & REDOX SIGNALING

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Muscle-specific GSTM2-2 on the luminal side of the sarcoplasmic reticulum modifies RyR ion channel activity

(2008) Lan Wei et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Thrombospondins 1 and 2 are Necessary for Synaptic Plasticity and Functional Recovery after Stroke

(2008) Jason Liauw et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

The crystal structure of human chloride intracellular channel protein 2: A disulfide bond with functional implications

(2008) Wei Mi et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS