Mechanisms linking connexin mutations to human diseases

Pannexin channels and their links to human disease

(2014) Silvia Penuela et al.   BIOCHEMICAL JOURNAL

Dominant negative connexin26 mutation R75W causing severe hearing loss influences normal programmed cell death in postnatal organ of Corti

(2014) Ayako Inoshita et al.   BMC GENETICS

An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels

(2014) Y. Sun et al.   Disease Models & Mechanisms

Specific Cx43 phosphorylation events regulate gap junction turnover in vivo

(2014) Joell L. Solan et al.   FEBS LETTERS

Gap junction regulation by calmodulin

(2014) Juan Zou et al.   FEBS LETTERS

Mix and match: Investigating heteromeric and heterotypic gap junction channels in model systems and native tissues

(2014) Michael Koval et al.   FEBS LETTERS

Connexins: Sensors of epidermal integrity that are therapeutic targets

(2014) Patricia E. Martin et al.   FEBS LETTERS

Atrial fibrillation-linked GJA5 /connexin40 mutants impaired gap junctions via different mechanisms

(2014) Donglin Bai   FEBS LETTERS

Syndromic and non-syndromic disease-linked Cx43 mutations

(2014) Dale W. Laird   FEBS LETTERS

Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies

(2014) A. C. Berger et al.   JOURNAL OF CELL SCIENCE

Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated

(2014) Joanna Gemel et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Atrial Fibrillation-Linked Germline GJA5/Connexin40 Mutants Showed an Increased Hemichannel Function

(2014) Yiguo Sun et al.   PLoS One

A Novel Homozygous Mutation in the EC1/EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment

(2014) Ralf Birkenhäger et al.   Biomed Research International

Gap junctions in C. elegans

(2014) Karina T. Simonsen et al.   Frontiers in Physiology

Role of Pannexin-1 hemichannels and purinergic receptors in the pathogenesis of human diseases

(2014) Stephani Velasquez et al.   Frontiers in Physiology

Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46

(2013) Jun-Jie Tong et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity

(2013) Pallavi V. Mhaske et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Conserved glycine at position 45 of major cochlear connexins constitutes a vital component of the Ca2+ sensor for gating of gap junction hemichannels

(2013) Yanping Zhang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

How do taste cells lacking synapses mediate neurotransmission? CALHM1, a voltage-gated ATP channel

(2013) Akiyuki Taruno et al.   BIOESSAYS

A synthetic connexin 43 mimetic peptide augments corneal wound healing

(2013) Keith Moore et al.   EXPERIMENTAL EYE RESEARCH

Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice

(2013) Q Yu et al.   GENE THERAPY

Structural and Functional Similarities of Calcium Homeostasis Modulator 1 (CALHM1) Ion Channel with Connexins, Pannexins, and Innexins

(2013) Adam P. Siebert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A mechanism of gap junction docking revealed by functional rescue of a human-disease-linked connexin mutant

(2013) X.-Q. Gong et al.   JOURNAL OF CELL SCIENCE

Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms

(2013) T. Huang et al.   JOURNAL OF CELL SCIENCE

Connexin30-mediated intercellular communication plays an essential role in epithelial repair in the cochlea

(2013) A. Forge et al.   JOURNAL OF CELL SCIENCE

The Connexin40A96S mutation from a patient with atrial fibrillation causes decreased atrial conduction velocities and sustained episodes of induced atrial fibrillation in mice

(2013) Indra Lübkemeier et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

(2013) Dylan K. Chan et al.   LARYNGOSCOPE

Mouse Otocyst Transuterine Gene Transfer Restores Hearing in Mice With Connexin 30 Deletion-associated Hearing Loss

(2013) Toru Miwa et al.   MOLECULAR THERAPY

Targeting the unfolded protein response in disease

(2013) Claudio Hetz et al.   NATURE REVIEWS DRUG DISCOVERY

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

(2013) Ying Hu et al.   PLoS One

Cataract-Causing Mutation of Human Connexin 46 Impairs Gap Junction, but Increases Hemichannel Function and Cell Death

(2013) Qian Ren et al.   PLoS One

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

The effects of the histone deacetylase inhibitor 4-phenylbutyrate on gap junction conductance and permeability

(2013) Joshua Kaufman et al.   Frontiers in Pharmacology

A Connexin43 Mimetic Peptide Promotes Regenerative Healing and Improves Mechanical Properties in Skin and Heart

(2013) Emily L. Ongstad et al.   Advances in Wound Care

Internalized gap junctions are degraded by autophagy

(2012) John T. Fong et al.   Autophagy

Endoplasmic reticulum (ER) stress inhibitor salubrinal protects against ceramide-induced SH-SY5Y cell death

(2012) Ting Gong et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice

(2012) Michael K. G. Stewart et al.   BIOCHEMICAL JOURNAL

Gap junction communication in myelinating glia

(2012) Anna Nualart-Marti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The biochemistry and function of pannexin channels

(2012) Silvia Penuela et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The role of connexins in ear and skin physiology — Functional insights from disease-associated mutations

(2012) Ji Xu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

(2012) Kleopas A. Kleopa et al.   BRAIN RESEARCH

Rare Variants in GJA5 Are Associated With Early-Onset Lone Atrial Fibrillation

(2012) Ingrid E. Christophersen et al.   CANADIAN JOURNAL OF CARDIOLOGY

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

(2012) Roberta Biancheri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The unfolded protein response is activated in connexin 50 mutant mouse lenses

(2012) Bhagwat V. Alapure et al.   EXPERIMENTAL EYE RESEARCH

Cytoplasmic Amino Acids within the Membrane Interface Region Influence Connexin Oligomerization

(2012) Tekla D. Smith et al.   JOURNAL OF MEMBRANE BIOLOGY

Degradation of Endocytosed Gap Junctions by Autophagosomal and Endo-/lysosomal Pathways: A Perspective

(2012) Matthias M. Falk et al.   JOURNAL OF MEMBRANE BIOLOGY

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia

(2012) Qing Shao et al.   MOLECULAR BIOLOGY OF THE CELL

Autophagy modulates dynamics of connexins at the plasma membrane in a ubiquitin-dependent manner

(2012) Eloy Bejarano et al.   MOLECULAR BIOLOGY OF THE CELL

Genenames.org: the HGNC resources in 2013

(2012) Kristian A. Gray et al.   NUCLEIC ACIDS RESEARCH

Pathogenic Connexin-31 Forms Constitutively Active Hemichannels to Promote Necrotic Cell Death

(2012) Jingwei Chi et al.   PLoS One

Calcium homeostasis modulator 1 (CALHM1) is the pore-forming subunit of an ion channel that mediates extracellular Ca2+ regulation of neuronal excitability

(2012) Z. Ma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular Chaperones as Targets to Circumvent the CFTR Defect in Cystic Fibrosis

(2012) Rebecca A. Chanoux et al.   Frontiers in Pharmacology

Key functions for gap junctions in skin and hearing

(2011) Claire A. Scott et al.   BIOCHEMICAL JOURNAL

Molecular interaction and functional regulation of connexin50 gap junctions by calmodulin

(2011) Yanyi Chen et al.   BIOCHEMICAL JOURNAL

Connexin 43 gene therapy prevents persistent atrial fibrillation in a porcine model

(2011) Olympia Bikou et al.   CARDIOVASCULAR RESEARCH

Human Connexin30.2/31.3 (GJC3) does not Form Functional Gap Junction Channels but Causes Enhanced ATP Release in HeLa Cells

(2011) Wei-Guang Liang et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Pannexin channels are not gap junction hemichannels

(2011) Gina E. Sosinsky et al.   Channels

Connexin Gene Transfer Preserves Conduction Velocity and Prevents Atrial Fibrillation

(2011) Tomonori Igarashi et al.   CIRCULATION

Connexin43 Mutation Causes Heterogeneous Gap Junction Loss and Sudden Infant Death

(2011) David W. Van Norstrand et al.   CIRCULATION

Connexin32 can restore hearing in connexin26 deficient mice

(2011) Joachim Degen et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

ERp29 Regulates ΔF508 and Wild-type Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Trafficking to the Plasma Membrane in Cystic Fibrosis (CF) and Non-CF Epithelial Cells

(2011) Laurence Suaud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Asparagine 175 of Connexin32 Is a Critical Residue for Docking and Forming Functional Heterotypic Gap Junction Channels with Connexin26

(2011) So Nakagawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lens intracellular hydrostatic pressure is generated by the circulation of sodium and modulated by gap junction coupling

(2011) Junyuan Gao et al.   JOURNAL OF GENERAL PHYSIOLOGY

The Role of Gap Junctions in Charcot-Marie-Tooth Disease

(2011) K. A. Kleopa   JOURNAL OF NEUROSCIENCE

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

(2011) Gulistan Mese et al.   MOLECULAR BIOLOGY OF THE CELL

Development of gap junctional intercellular communication within the lateral wall of the rat cochlea

(2011) J.J. Kelly et al.   NEUROSCIENCE

BAAV Mediated GJB2 Gene Transfer Restores Gap Junction Coupling in Cochlear Organotypic Cultures from Deaf Cx26Sox10Cre Mice

(2011) Giulia Crispino et al.   PLoS One

The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants

(2010) Jared M. Churko et al.   BIOCHEMICAL JOURNAL

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

(2010) E Sbidian et al.   CLINICAL GENETICS

Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30

(2010) Ching-Chyuan Su et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cell membrane permeabilization via connexin hemichannels in living and dying cells

(2010) Juan C. Sáez et al.   EXPERIMENTAL CELL RESEARCH

Intramolecular loop/tail interactions are essential for connexin 43-hemichannel activity

(2010) Raf Ponsaerts et al.   FASEB JOURNAL

Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss

(2010) Hui-Mei Hong et al.   HUMAN GENETICS

The Membrane Properties of Cochlear Root Cells are Consistent with Roles in Potassium Recirculation and Spatial Buffering

(2010) Daniel J. Jagger et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Pannexin1 and Pannexin3 Delivery, Cell Surface Dynamics, and Cytoskeletal Interactions

(2010) Ruchi Bhalla-Gehi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differentially altered Ca2+regulation and Ca2+permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome

(2010) Helmuth A. Sánchez et al.   JOURNAL OF GENERAL PHYSIOLOGY

Pannexin 1 channels mediate ‘find-me’ signal release and membrane permeability during apoptosis

(2010) Faraaz B. Chekeni et al.   NATURE

Lens Gap Junctions in Growth, Differentiation, and Homeostasis

(2010) Richard T. Mathias et al.   PHYSIOLOGICAL REVIEWS

Targeted connexin26 ablation arrests postnatal development of the organ of Corti

(2009) Yunfeng Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Connexin43 phosphorylation: structural changes and biological effects

(2009) Joell L. Solan et al.   BIOCHEMICAL JOURNAL

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models

(2009) Emilie Hoang Dinh et al.   BRAIN RESEARCH

Function and Expression Pattern of Nonsyndromic Deafness Genes

(2009) Nele Hilgert et al.   CURRENT MOLECULAR MEDICINE

Connexin 43 regulates epicardial cell polarity and migration in coronary vascular development

(2009) D. Y. Rhee et al.   DEVELOPMENT

C-terminal tagging with eGFP yields new insights into expression of connexin45 but prevents rescue of embryonic lethal connexin45-deficient mice

(2009) Julia von Maltzahn et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

The TSG101 protein binds to connexins and is involved in connexin degradation

(2009) Tanja Auth et al.   EXPERIMENTAL CELL RESEARCH

The role of the cytoskeleton in the formation of gap junctions by Connexin 30

(2009) Chunyan Qu et al.   EXPERIMENTAL CELL RESEARCH

A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss

(2009) Hui-Mei Hong et al.   HUMAN GENETICS

EKV mutant connexin 31 associated cell death is mediated by ER stress

(2009) Daniel Tattersall et al.   HUMAN MOLECULAR GENETICS

Ubiquitylation of the gap junction protein connexin-43 signals its trafficking from early endosomes to lysosomes in a process mediated by Hrs and Tsg101

(2009) E. Leithe et al.   JOURNAL OF CELL SCIENCE

Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea

(2009) Yu Sun et al.   JOURNAL OF COMPARATIVE NEUROLOGY

ERp29 Restricts Connexin43 Oligomerization in the Endoplasmic Reticulum

(2009) Shamie Das et al.   MOLECULAR BIOLOGY OF THE CELL

Structure of the connexin 26 gap junction channel at 3.5 Å resolution

(2009) Shoji Maeda et al.   NATURE

Connexin43 carboxyl-terminal peptides reduce scar progenitor and promote regenerative healing following skin wounding

(2009) Gautam S Ghatnekar et al.   Regenerative Medicine

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

The gap junction proteome and its relationship to disease

(2009) Dale W. Laird   TRENDS IN CELL BIOLOGY

A Polymorphism in CALHM1 Influences Ca2+ Homeostasis, Aβ Levels, and Alzheimer's Disease Risk

(2008) Ute Dreses-Werringloer et al.   CELL

Identification of rab20 as a Potential Regulator of Connexin43 Trafficking

(2008) Jayasri Das Sarma et al.   CELL COMMUNICATION AND ADHESION

The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum

(2008) Alexandra Lichtenstein et al.   EXPERIMENTAL EYE RESEARCH

Blocking connexin43 expression reduces inflammation and improves functional recovery after spinal cord injury

(2008) Michael Cronin et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A Fully Atomistic Model of the Cx32 Connexon

(2008) Sergio Pantano et al.   PLoS One

Gap Junction Mediated Intercellular Metabolite Transfer in the Cochlea Is Compromised in Connexin30 Null Mice

(2008) Qing Chang et al.   PLoS One

ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear

(2008) F. Anselmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Caveolin-1 and -2 Interact with Connexin43 and Regulate Gap Junctional Intercellular Communication in Keratinocytes

(2007) Stéphanie Langlois et al.   MOLECULAR BIOLOGY OF THE CELL