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。A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
Robert Fledrich et al.
BRAIN (2012)
F-Actin Distribution at Nodes of Ranvier and Schmidt-Lanterman Incisures in Mammalian Sciatic Nerves
Alejandra Kun et al.
CYTOSKELETON (2012)
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22
Erin A. Jones et al.
HUMAN MOLECULAR GENETICS (2012)
Myelinating and demyelinating phenotype of Trembler-J mouse (a model of Charcot-Marie-Tooth human disease) analyzed by atomic force microscopy and confocal microscopy
Gonzalo Rosso et al.
JOURNAL OF MOLECULAR RECOGNITION (2012)
Neuropathy in a Human Without the PMP22 Gene
Mario Andre Saporta et al.
ARCHIVES OF NEUROLOGY (2011)
Update on Charcot-Marie-Tooth Disease
Agnes Patzko et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)
Gpr126 is essential for peripheral nerve development and myelination in mammals
Kelly R. Monk et al.
DEVELOPMENT (2011)
Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice
Camiel Verhamme et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)
Regulation of the PMP22 Gene through an Intronic Enhancer
Erin A. Jones et al.
JOURNAL OF NEUROSCIENCE (2011)
Charcot-Marie-Tooth disease
Mary M. Reilly et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
Davide Pareyson et al.
LANCET NEUROLOGY (2011)
REPORT OF A NOVEL MUTATION IN THE PMP22 GENE CAUSING AN AXONAL NEUROPATHY
Burkhard Gess et al.
MUSCLE & NERVE (2011)
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement
Byung-Ok Choi et al.
NEUROGENETICS (2011)
Variable phenotypes are associated with PMP22 missense mutations
M. Russo et al.
NEUROMUSCULAR DISORDERS (2011)
Structural Basis for the Trembler-J Phenotype of Charcot-Marie-Tooth Disease
Masayoshi Sakakura et al.
STRUCTURE (2011)
DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations
P. M. Gonnaud et al.
ACTA NEUROLOGICA SCANDINAVICA (2010)
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
Feng Zhang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
Marian A. J. Weterman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
Akiko Abe et al.
JOURNAL OF HUMAN GENETICS (2010)
Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes
Sung-Wook Jang et al.
JOURNAL OF NEUROCHEMISTRY (2010)
Activation of Krox20 gene expression by Sox10 in myelinating Schwann cells
Simone Reiprich et al.
JOURNAL OF NEUROCHEMISTRY (2010)
Rapamycin Activates Autophagy and Improves Myelination in Explant Cultures from Neuropathic Mice
Sunitha Rangaraju et al.
JOURNAL OF NEUROSCIENCE (2010)
Conduction Block in PMP22 Deficiency
Yunhong Bai et al.
JOURNAL OF NEUROSCIENCE (2010)
PMP22 expression in dermal nerve myelin from patients with CMT1A
Istvan Katona et al.
BRAIN (2009)
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A
Mario A. Saporta et al.
BRAIN (2009)
Peripheral Myelin Protein 22 is Regulated Post-Transcriptionally by miRNA-29a
Jonathan D. Verrier et al.
GLIA (2009)
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)
Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage
Heiner Nattkaemper et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Cholesterol Regulates the Endoplasmic Reticulum Exit of the Major Membrane Protein P0 Required for Peripheral Myelin Compaction
Gesine Saher et al.
JOURNAL OF NEUROSCIENCE (2009)
Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease
Irina Madorsky et al.
NEUROBIOLOGY OF DISEASE (2009)
A G Protein-Coupled Receptor Is Essential for Schwann Cells to Initiate Myelination
Kelly R. Monk et al.
SCIENCE (2009)
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)
The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized
Jeffrey K. Myers et al.
BIOCHEMISTRY (2008)
Ascorbic acid is a regulator of the intracellular cAMP concentration: Old molecule, new functions?
F. Kaya et al.
FEBS LETTERS (2008)
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
Marco Luigetti et al.
MUSCLE & NERVE (2008)
Purification and initiation of structural characterization of human peripheral myelin protein 22, an integral membrane protein linked to peripheral neuropathies
Charles K. Mobley et al.
BIOCHEMISTRY (2007)
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies
Jun Li et al.
ARCHIVES OF NEUROLOGY (2007)
Siva is an apoptosis-selective p53 target gene important for neuronal cell death
S. B. R. Jacobs et al.
CELL DEATH AND DIFFERENTIATION (2007)
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)
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels
Ferdinand Kaya et al.
NEUROMUSCULAR DISORDERS (2007)
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones
Jenny Fortun et al.
NEUROBIOLOGY OF DISEASE (2007)
Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice
Stephanie A. Amici et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2007)
Rapid conduction and the evolution of giant axons and myelinated fibers
D. K. Hartline et al.
CURRENT BIOLOGY (2007)
Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
Gerd Meyer zu Horste et al.
ANNALS OF NEUROLOGY (2007)
Interactions of Sox10 and Egr2 in myelin gene regulation
Erin A. Jones et al.
NEURON GLIA BIOLOGY (2007)
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: A potential therapy for inherited neuropathy
Mehrdad Khajavi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Peripheral myelin protein 22 is expressed in human central nervous system
Yutaka Ohsawa et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
The zinc containing pro-apoptotic protein siva interacts with the peroxisomal membrane protein pmp22
Matthias Nestler et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2006)
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy
Z. Cai et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2006)
Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression
J Fortun et al.
NEUROBIOLOGY OF DISEASE (2006)
Direct regulation of myelin protein zero expression by the Egr2 transactivator
SE LeBlanc et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy
Z Cai et al.
EXPERIMENTAL NEUROLOGY (2006)
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy
ME Shy et al.
ANNALS OF NEUROLOGY (2006)
Peripheral myelin protein 22 is in complex with α6β4 integrin, and its absence alters the Schwann cell basal lamina
SA Amici et al.
JOURNAL OF NEUROSCIENCE (2006)
Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination
SE LeBlanc et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Experimental Charcot-Marie-Tooth type 1A: A cDNA microarrays analysis
T Vigo et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
An 8.5-kb segment of the PMP22 promoter responds to loss of axon signals during Wallerian degeneration, but does not respond to specific axonal signals during nerve regeneration
W Orfali et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2005)
Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation
G Giambonini-Brugnoli et al.
NEUROBIOLOGY OF DISEASE (2005)
Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice -: art. no. 15
MM Schuierer et al.
BMC MUSCULOSKELETAL DISORDERS (2005)
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA
JJ Devaux et al.
JOURNAL OF NEUROSCIENCE (2005)
Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture
N Liu et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2005)
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)
Perp is required for tissue-specific cell survival during zebrafish development
M Nowak et al.
CELL DEATH AND DIFFERENTIATION (2005)
Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects
ME Egan et al.
SCIENCE (2004)
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
E Passage et al.
NATURE MEDICINE (2004)
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies
J Li et al.
MUSCLE & NERVE (2004)
Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves
FA Court et al.
NATURE (2004)
The temporospatial expression of peripheral myelin protein 22 at the developing blood-nerve and blood-brain barriers
KJ Roux et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
Peripheral myelin protein 22 kDa and protein zero:: domain specific trans-interactions
B Hasse et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2004)
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
A Bolino et al.
JOURNAL OF CELL BIOLOGY (2004)
Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking
N Liu et al.
NEUROBIOLOGY OF DISEASE (2004)
Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease
L Nobbio et al.
NEUROBIOLOGY OF DISEASE (2004)
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)
Perp is a mediator of p53-dependent apoptosis in diverse cell types
RA Ihrie et al.
CURRENT BIOLOGY (2003)
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases
I Shames et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2003)
Evidence for impaired axonal regeneration in PMP22 duplication: studies in nerve xenografts
Z Sahenk et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2003)
Neural crest patterning:: autoregulatory and crest-specific elements co-operate for Krox20 transcriptional control
J Ghislain et al.
DEVELOPMENT (2003)
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
MW Sereda et al.
NATURE MEDICINE (2003)
Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons
M Maier et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2003)
Towards crystallization of hydrophobic myelin glycoproteins: P0 and PASII/PMP22
J Sedzik et al.
PROTEIN EXPRESSION AND PURIFICATION (2002)
Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells
WJ Ingram et al.
ONCOGENE (2002)
PMP22 overexpression causes dysmyelination in mice
A Robaglia-Schlupp et al.
BRAIN (2002)
Tomacula in MAG-deficient mice
Z Cai et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2002)
Rafts in adult peripheral nerve myelin contain major structural myelin proteins and myelin and lymphocyte protein (MAL) and CD59 as specific markers
B Erne et al.
JOURNAL OF NEUROCHEMISTRY (2002)
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)
Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations
MC Ryan et al.
NEUROBIOLOGY OF DISEASE (2002)
Hereditary neuropathy with liability to pressure palsy - The electrophysiology fits the name
J Li et al.
NEUROLOGY (2002)
Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves
M Maier et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2002)
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A
AM Robertson et al.
JOURNAL OF ANATOMY (2002)
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)
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10
N Bondurand et al.
HUMAN MOLECULAR GENETICS (2001)
Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A
S Sancho et al.
BRAIN (2001)
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene
M Hai et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2001)
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A
J Perea et al.
HUMAN MOLECULAR GENETICS (2001)
EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression
R Nagarajan et al.
NEURON (2001)
PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells
J Colby et al.
NEUROBIOLOGY OF DISEASE (2000)
Role of the peripheral myelin protein 22 N-linked glycan in oligomer stability
MC Ryan et al.
JOURNAL OF NEUROCHEMISTRY (2000)
Exposure at the cell surface is required for Gas3/PMP22 to regulate both cell death and cell spreading: Implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases
C Brancolini et al.
MOLECULAR BIOLOGY OF THE CELL (2000)
Solubilization of PNS myelin membrane proteins by detergents
J Sedzik et al.
NEUROREPORT (2000)
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)
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
KM Krajewski et al.
BRAIN (2000)
Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells
F Désarnaud et al.
BRAIN RESEARCH (2000)
Molecular dissection of the Schwann cell specific promoter of the PMP22 gene
D Sabéran-Djoneidi et al.
GENE (2000)
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies
S Sander et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)
Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A
CO Hanemann et al.
BRAIN (2000)
Hereditary recurrent focal neuropathies -: Clinical and molecular features
F Stögbauer et al.
NEUROLOGY (2000)
Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies
PB Andersson et al.
NEUROLOGY (2000)
On the molecular architecture of myelinated fibers
EJ Arroyo et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2000)