Golgi‐retained Cx32 mutants interfere with gene addition therapy for CMT1X

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Human Molecular Genetics

• Publication date

  2017-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/hmg/ddx064PMID 28334782
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes.

  2017cited by this paper
• Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy

  2016cited by this paper
• Intraneural GJB1 gene delivery improves nerve pathology in a model of X‐linked Charcot–Marie–Tooth disease

  2015cited by this paper
• Disease-Causing Allele-Specific Silencing by RNA Interference

  2013cited by this paper
• Cytoplasmic Amino Acids within the Membrane Interface Region Influence Connexin Oligomerization

  2012cited by this paper
• The Role of Gap Junctions in Charcot-Marie-Tooth Disease

  2011cited by this paper
• Axonal Pathology Precedes Demyelination in a Mouse Model of X-Linked Demyelinating/Type I Charcot-Marie Tooth Neuropathy

  2010cited by this paper
• Mechanism and components of endoplasmic reticulum-associated degradation.

  2010cited by this paper
• Connexin32 Mutations Cause Loss of Function in Schwann Cells and Oligodendrocytes Leading to PNS and CNS Myelination Defects

  2009cited by this paper
• Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.

  2009cited by this paper
• Charcot-Marie-Tooth neuropathies: diagnosis and management.

  2008cited by this paper
• CMT1X phenotypes represent loss of GJB1 gene function

  2007cited by this paper
• Molecular genetics of X-linked Charcot-Marie-Tooth disease

  2007cited by this paper
• Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot‐Marie‐Tooth disease)

  2006cited by this paper
• Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X

  2006cited by this paper
• Life cycle of connexins in health and disease.

  2006cited by this paper
• Gene silencing through RNA interference (RNAi) in vivo: strategies based on the direct application of siRNAs.

  2006cited by this paper
• The effects of a dominant connexin32 mutant in myelinating Schwann cells.

  2006cited by this paper
• Defining a Minimal Motif Required to Prevent Connexin Oligomerization in the Endoplasmic Reticulum*

  2005cited by this paper
• Transgenic Expression of Human Connexin32 in Myelinating Schwann Cells Prevents Demyelination in Connexin32-Null Mice

  2005cited by this paper
• Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

  2004cited by this paper
• Regulation of connexin biosynthesis, assembly, gap junction formation, and removal.

  2004cited by this paper
• Allele-specific silencing of dominant disease genes

  2003cited by this paper
• Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

  2002cited by this paper
• Cellular mechanisms of connexin32 mutations associated with CNS manifestations

  2002cited by this paper
• Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

  2001cited by this paper
• Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

  2001cited by this paper
• Biosynthesis and structural composition of gap junction intercellular membrane channels.

  2000cited by this paper
• Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.

  2000cited by this paper
• Analysis of Gap Junction Assembly Using Mutated Connexins Detected in Charcot—Marie—Tooth X‐Linked Disease

  2000cited by this paper
• Altered Formation of Hemichannels and Gap Junction Channels Caused by C-Terminal Connexin-32 Mutations

  1999cited by this paper
• X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

  1999cited by this paper
• Connexin32‐null mice develop demyelinating peripheral neuropathy

  1998cited by this paper
• Connexin32 Mutations Associated with X-Linked Charcot–Marie–Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties

  1998cited by this paper
• Altered Trafficking of Mutant Connexin32

  1997cited by this paper
• The biology and pathobiology of Schwann cells.

  1997cited by this paper
• Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32

  1997cited by this paper
• Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease.

  1997cited by this paper
• Connections with connexins: the molecular basis of direct intercellular signaling.

  1996cited by this paper
• Connexins, connexons, and intercellular communication.

  1996cited by this paper
• Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.

  1996cited by this paper
• Connexin32 is a myelin-related protein in the PNS and CNS

  1995cited by this paper
• Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.

  1994cited by this paper
• Connexin mutations in X-linked Charcot-Marie-Tooth disease.

  1993cited by this paper
• Double refraction of flow studies on hyaluronic acid prepared from the vitreous body.

  1957cited by this paper
• MUSCULAR ATROPHY OF THE PERONEAL TYPE AFFECTING MANY MEMBERS OF A FAMILY

  1888cited by this paper

• Different GJA8 missense variants reveal distinct pathogenic mechanisms in congenital cataract.

  2025cites this paper
• New perspectives for gene therapy of the X-linked form of Charcot-Marie-Tooth disease

  2024cites this paper
• Two new mouse models of Gjb1‐associated Charcot–Marie–Tooth disease type 1X

  2023cites this paper
• Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy

  2023influential citation
• Charcot–Marie–Tooth neuropathies: Current gene therapy advances and the route toward translation

  2023cites this paper
• Connexin Mutations and Hereditary Diseases

  2022cites this paper
• Connexin 32 overexpression increases proliferation, reduces gap junctional intercellular communication, motility and epithelial-to-mesenchymal transition in Hs578T breast cancer cells

  2022cites this paper
• Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies

  2021cites this paper
• Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

  2021cites this paper
• AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy

  2021cites this paper
• Cellular mechanisms of connexin-based inherited diseases.

  2021cites this paper
• Mechanisms and Treatments in Demyelinating CMT

  2021cites this paper
• Diagnosis, prognosis, and treatment of leukodystrophies.

  2019cites this paper
• Gene therapy approaches targeting Schwann cells for demyelinating neuropathies.

  2019cites this paper
• Charcot-Marie-Tooth: From Molecules to Therapy

  2019cites this paper
• The role of oligodendrocyte gap junctions in neuroinflammation

  2019cites this paper
• Model validity for preclinical studies in precision medicine: precisely how precise do we need to be?

  2019cites this paper
• Intrathecal gene therapy in mouse models expressing CMT1X mutations

  2018cites this paper
• New developments in Charcot–Marie–Tooth neuropathy and related diseases

  2017cites this paper