4.6 Review

The PMP22 Gene and Its Related Diseases

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22

Erin A. Jones et al.

HUMAN MOLECULAR GENETICS (2012)

Article

Neuropathy in a Human Without the PMP22 Gene

Mario Andre Saporta et al.

ARCHIVES OF NEUROLOGY (2011)

Review Clinical Neurology

Update on Charcot-Marie-Tooth Disease

Agnes Patzko et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)

Article Developmental Biology

Gpr126 is essential for peripheral nerve development and myelination in mammals

Kelly R. Monk et al.

DEVELOPMENT (2011)

Article Clinical Neurology

Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice

Camiel Verhamme et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)

Article Neurosciences

Regulation of the PMP22 Gene through an Intronic Enhancer

Erin A. Jones et al.

JOURNAL OF NEUROSCIENCE (2011)

Article Clinical Neurology

Charcot-Marie-Tooth disease

Mary M. Reilly et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)

Article Clinical Neurology

REPORT OF A NOVEL MUTATION IN THE PMP22 GENE CAUSING AN AXONAL NEUROPATHY

Burkhard Gess et al.

MUSCLE & NERVE (2011)

Article Clinical Neurology

Variable phenotypes are associated with PMP22 missense mutations

M. Russo et al.

NEUROMUSCULAR DISORDERS (2011)

Article Biochemistry & Molecular Biology

Structural Basis for the Trembler-J Phenotype of Charcot-Marie-Tooth Disease

Masayoshi Sakakura et al.

STRUCTURE (2011)

Article Genetics & Heredity

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

H. Skre

CLINICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

Marian A. J. Weterman et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

Akiko Abe et al.

JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes

Sung-Wook Jang et al.

JOURNAL OF NEUROCHEMISTRY (2010)

Article Biochemistry & Molecular Biology

Activation of Krox20 gene expression by Sox10 in myelinating Schwann cells

Simone Reiprich et al.

JOURNAL OF NEUROCHEMISTRY (2010)

Article Neurosciences

Rapamycin Activates Autophagy and Improves Myelination in Explant Cultures from Neuropathic Mice

Sunitha Rangaraju et al.

JOURNAL OF NEUROSCIENCE (2010)

Article Neurosciences

Conduction Block in PMP22 Deficiency

Yunhong Bai et al.

JOURNAL OF NEUROSCIENCE (2010)

Article Clinical Neurology

PMP22 expression in dermal nerve myelin from patients with CMT1A

Istvan Katona et al.

Article Biochemistry & Molecular Biology

P2X7-mediated Increased Intracellular Calcium Causes Functional Derangement in Schwann Cells from Rats with CMT1A Neuropathy

Lucilla Nobbio et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Multidisciplinary Sciences

A G Protein-Coupled Receptor Is Essential for Schwann Cells to Initiate Myelination

Kelly R. Monk et al.

SCIENCE (2009)

Article Genetics & Heredity

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

Khalid Al-Thihli et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Clinical Neurology

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

Marco Luigetti et al.

MUSCLE & NERVE (2008)

Article Biochemistry & Molecular Biology

Siva is an apoptosis-selective p53 target gene important for neuronal cell death

S. B. R. Jacobs et al.

CELL DEATH AND DIFFERENTIATION (2007)

Article Biochemistry & Molecular Biology

Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10

Scott E. LeBlanc et al.

MOLECULAR AND CELLULAR BIOLOGY (2007)

Article Clinical Neurology

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels

Ferdinand Kaya et al.

NEUROMUSCULAR DISORDERS (2007)

Article Neurosciences

Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice

Stephanie A. Amici et al.

JOURNAL OF NEUROSCIENCE RESEARCH (2007)

Review Biochemistry & Molecular Biology

Rapid conduction and the evolution of giant axons and myelinated fibers

D. K. Hartline et al.

CURRENT BIOLOGY (2007)

Article Neurosciences

Interactions of Sox10 and Egr2 in myelin gene regulation

Erin A. Jones et al.

NEURON GLIA BIOLOGY (2007)

Article Clinical Neurology

Peripheral myelin protein 22 is expressed in human central nervous system

Yutaka Ohsawa et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)

Article Cell Biology

The zinc containing pro-apoptotic protein siva interacts with the peroxisomal membrane protein pmp22

Matthias Nestler et al.

MOLECULAR AND CELLULAR BIOCHEMISTRY (2006)

Article Clinical Neurology

Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy

Z. Cai et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2006)

Article Biochemistry & Molecular Biology

Direct regulation of myelin protein zero expression by the Egr2 transactivator

SE LeBlanc et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Clinical Neurology

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

ME Shy et al.

ANNALS OF NEUROLOGY (2006)

Article Biochemistry & Molecular Biology

Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination

SE LeBlanc et al.

JOURNAL OF NEUROCHEMISTRY (2005)

Article Neurosciences

Experimental Charcot-Marie-Tooth type 1A: A cDNA microarrays analysis

T Vigo et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2005)

Article Neurosciences

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA

JJ Devaux et al.

JOURNAL OF NEUROSCIENCE (2005)

Article Biochemistry & Molecular Biology

Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants

A Fontanini et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Biochemistry & Molecular Biology

Perp is required for tissue-specific cell survival during zebrafish development

M Nowak et al.

CELL DEATH AND DIFFERENTIATION (2005)

Article Multidisciplinary Sciences

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

ME Egan et al.

SCIENCE (2004)

Article Biochemistry & Molecular Biology

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

E Passage et al.

NATURE MEDICINE (2004)

Article Neurosciences

Peripheral myelin protein 22 kDa and protein zero:: domain specific trans-interactions

B Hasse et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2004)

Article Clinical Neurology

Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training

SH Horowitz et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)

Article Biochemistry & Molecular Biology

Perp is a mediator of p53-dependent apoptosis in diverse cell types

RA Ihrie et al.

CURRENT BIOLOGY (2003)

Review Neurosciences

Polarized domains of myelinated axons

JL Salzer

NEURON (2003)

Article Clinical Neurology

Evidence for impaired axonal regeneration in PMP22 duplication: studies in nerve xenografts

Z Sahenk et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2003)

Article Biochemical Research Methods

Towards crystallization of hydrophobic myelin glycoproteins: P0 and PASII/PMP22

J Sedzik et al.

PROTEIN EXPRESSION AND PURIFICATION (2002)

Article Biochemistry & Molecular Biology

Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells

WJ Ingram et al.

ONCOGENE (2002)

Article Clinical Neurology

PMP22 overexpression causes dysmyelination in mice

A Robaglia-Schlupp et al.

Article Clinical Neurology

Tomacula in MAG-deficient mice

Z Cai et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2002)

Article Multidisciplinary Sciences

Association of calnexin with mutant peripheral myelin protein-22 ex vivo:: A basis for gain-of-function ER diseases

KM Dickson et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)

Article Multidisciplinary Sciences

Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia

L Notterpek et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)

Article Biochemistry & Molecular Biology

Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A

J Perea et al.

HUMAN MOLECULAR GENETICS (2001)

Article Biochemistry & Molecular Biology

Role of the peripheral myelin protein 22 N-linked glycan in oligomer stability

MC Ryan et al.

JOURNAL OF NEUROCHEMISTRY (2000)

Article Neurosciences

Solubilization of PNS myelin membrane proteins by detergents

J Sedzik et al.

NEUROREPORT (2000)

Article Biochemistry & Molecular Biology

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy

AM Isaacs et al.

HUMAN MOLECULAR GENETICS (2000)

Article Genetics & Heredity

Molecular dissection of the Schwann cell specific promoter of the PMP22 gene

D Sabéran-Djoneidi et al.

Article Clinical Neurology

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

S Sander et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)

Review Clinical Neurology

Hereditary recurrent focal neuropathies -: Clinical and molecular features

F Stögbauer et al.

NEUROLOGY (2000)

Review Cell Biology

On the molecular architecture of myelinated fibers

EJ Arroyo et al.

HISTOCHEMISTRY AND CELL BIOLOGY (2000)