Regulatory-auxiliary subunits of CLC chloride channel-transport proteins

Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

(2014) Mohit Dubey et al.   ANNALS OF NEUROLOGY

I–J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes

(2014) Antonella Gradogna et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Targeting kidney CLC-K channels: Pharmacological profile in a human cell line versus Xenopus oocytes

(2014) Paola Imbrici et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

GlialCAM, a CLC-2 Cl - Channel Subunit, Activates the Slow Gate of CLC Chloride Channels

(2014) Elena Jeworutzki et al.   BIOPHYSICAL JOURNAL

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions

(2014) S. Weinert et al.   EMBO REPORTS

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans

(2014) Sònia Sirisi et al.   HUMAN MOLECULAR GENETICS

Functional Analyses of Mutations inHEPACAMCausing Megalencephalic Leukoencephalopathy

(2014) Tanit Arnedo et al.   HUMAN MUTATION

Secretion of a Truncated Osteopetrosis-associated Transmembrane Protein 1 (OSTM1) Mutant Inhibits Osteoclastogenesis through Down-regulation of the B Lymphocyte-induced Maturation Protein 1 (BLIMP1)-Nuclear Factor of Activated T Cells c1 (NFATc1) Axis

(2014) Bongjin Shin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Severe Neurodegeneration with Impaired Autophagy Mechanism Triggered by Ostm1 Deficiency

(2014) Céline Héraud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Voltage-Gated Anion Channels Encoded by clh-3 Regulate Egg Laying in C. elegans by Modulating Motor Neuron Excitability

(2014) Robyn Branicky et al.   JOURNAL OF NEUROSCIENCE

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

(2014) D. Di Bella et al.   NEUROLOGY

Identification and characterization of the zebrafish ClC-2 chloride channel orthologs

(2014) Carla Pérez-Rius et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Phosphorylation of the vacuolar anion exchanger AtCLCa is required for the stomatal response to abscisic acid

(2014) S. Wege et al.   Science Signaling

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction

(2014) Maja B. Hoegg-Beiler et al.   Nature Communications

Characterization of the mouse ClC-K1/Barttin chloride channel

(2013) Sébastien L'Hoste et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

(2013) Claus-Eric Ott et al.   BONE

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents

(2013) Xavier Capdevila-Nortes et al.   HUMAN MOLECULAR GENETICS

MicroRNA-140 Promotes Adipocyte Lineage Commitment of C3H10T1/2 Pluripotent Stem Cells via Targeting Osteopetrosis-associated Transmembrane Protein 1

(2013) Yuan Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

(2013) Christel Depienne et al.   LANCET NEUROLOGY

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

(2013) Tanit Arnedo et al.   NEUROGENETICS

Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules

(2013) O. M. Woodward et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dissecting a regulatory calcium-binding site of CLC-K kidney chloride channels

(2012) Antonella Gradogna et al.   JOURNAL OF GENERAL PHYSIOLOGY

TheArabidopsiscentral vacuole as an expression system for intracellular transporters: functional characterization of the Cl−/H+exchanger CLC-7

(2012) Alex Costa et al.   JOURNAL OF PHYSIOLOGY-LONDON

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

(2012) Marjo S van der Knaap et al.   LANCET NEUROLOGY

Erratum: Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond

(2012) Annette C. Dolphin   NATURE REVIEWS NEUROSCIENCE

Biochemistry to the Rescue: A ClC-2 Auxiliary Subunit Provides a Tangible Link to Leukodystrophy

(2012) Merritt C. Maduke et al.   NEURON

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

(2012) Elena Jeworutzki et al.   NEURON

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chloride channel ClC-2 modulates tight junction barrier function via intracellular trafficking of occludin

(2011) Prashant K. Nighot et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

Severe Defects in Absorptive Ion Transport in Distal Colons of Mice That Lack ClC-2 Channels

(2011) Marcelo A. Catalán et al.   GASTROENTEROLOGY

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

(2011) Tania López-Hernández et al.   HUMAN MOLECULAR GENETICS

ClC-2 Channels Regulate Neuronal Excitability, Not Intracellular Chloride Levels

(2011) S. Ratte et al.   JOURNAL OF NEUROSCIENCE

Na+ Channel ? Subunits: Overachievers of the Ion Channel Family

(2011) William J. Brackenbury et al.   Frontiers in Pharmacology

HEPACAM1 and 2 are differentially regulated in canine mammary adenomas and carcinomas and its lymph node metastases

(2010) Robert Klopfleisch et al.   BMC Veterinary Research

Identification of sites responsible for the potentiating effect of niflumic acid on ClC-Ka kidney chloride channels

(2010) G Zifarelli et al.   BRITISH JOURNAL OF PHARMACOLOGY

Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts

(2010) Gert C. Scheper et al.   Genetic Testing and Molecular Biomarkers

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

(2010) Tobias Stauber et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Late Endosomal ClC-6 Mediates Proton/Chloride Countertransport in Heterologous Plasma Membrane Expression

(2010) Ioana Neagoe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels

(2010) Antonella Gradogna et al.   JOURNAL OF GENERAL PHYSIOLOGY

ClC-2 Voltage-Gated Channels Constitute Part of the Background Conductance and Assist Chloride Extrusion

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

Barttin Activates ClC-K Channel Function by Modulating Gating

(2010) M. Fischer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Regulation of fast-spiking basket cell synapses by the chloride channel ClC-2

(2010) Csaba Földy et al.   NATURE NEUROSCIENCE

Loop Disorders: Insights Derived from Defined Genotypes

(2010) Nikola Jeck et al.   NEPHRON PHYSIOLOGY

Disruption of ClC-2 expression is associated with progressive neurodegeneration in aging mice

(2010) M.A. Cortez et al.   NEUROSCIENCE

Ancillary Subunits Associated With Voltage-Dependent K+ Channels

(2010) Olaf Pongs et al.   PHYSIOLOGICAL REVIEWS

Lysosomal Pathology and Osteopetrosis upon Loss of H+-Driven Lysosomal Cl- Accumulation

(2010) S. Weinert et al.   SCIENCE

Physiology and pathophysiology of ClC-K/barttin channels

(2010) Christoph Fahlke   Frontiers in Physiology

Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

(2009) Saima Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chloride Channels: Often Enigmatic, Rarely Predictable

(2009) Charity Duran et al.   Annual Review of Physiology

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7

(2009) Lena Wartosch et al.   FASEB JOURNAL

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

The immunoglobulin-like cell adhesion molecule hepaCAM modulates cell adhesion and motility through direct interaction with the actin cytoskeleton

(2009) Mei Chung Moh et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Functional role of CLC-2 chloride inward rectifier channels in cardiac sinoatrial nodal pacemaker cells

(2009) Z. Maggie Huang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

(2009) J.E. Rash   NEUROSCIENCE

Potassium Ion Movement in the Inner Ear: Insights from Genetic Disease and Mouse Models

(2009) Anselm A. Zdebik et al.   PHYSIOLOGY

Clcn2 encodes the hyperpolarization-activated chloride channel in the ducts of mouse salivary glands

(2008) Victor G. Romanenko et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Interaction of the immunoglobulin-like cell adhesion molecule hepaCAM with caveolin-1

(2008) Mei Chung Moh et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Expression of hepaCAM is downregulated in cancers and induces senescence-like growth arrest via a p53/p21-dependent pathway in human breast cancer cells

(2008) M. C. Moh et al.   CARCINOGENESIS

OSTM1 regulates β-catenin/Lef1 interaction and is required for Wnt/β-catenin signaling

(2008) Michael E. Feigin et al.   CELLULAR SIGNALLING

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

(2008) Thomas J. Jentsch   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV

(2008) Gesa Rickheit et al.   EMBO JOURNAL

GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system

(2008) Linda Favre-Kontula et al.   GLIA

OSTM1 Bone Defect Reveals an Intercellular Hematopoietic Crosstalk

(2008) Monica Pata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

(2008) A. G.H. Janssen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY