(Q38007033)

26 August 2017

Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease (English)

1 reference

26 August 2017

Robert Fledrich

1

1 reference

PubMed ID

22551516

26 August 2017

Ruth M Stassart

series ordinal

2

1 reference

PubMed ID

22551516

26 August 2017

Michael W Sereda

series ordinal

3

1 reference

26 August 2017

2 May 2012

1 reference

26 August 2017

British Medical Bulletin

1 reference

26 August 2017

102

1 reference

26 August 2017

89-113

1 reference

Population frequencies of inherited neuromuscular diseases—A world survey

26 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

21 January 2018

Genetics of neuropathies

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Animal models of inherited neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Animal models of Charcot-Marie-Tooth disease type 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Disease mechanisms in inherited neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Conduction block in PMP22 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

PMP22 accumulation in aggresomes: implications for CMT1A pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Protein composition of myelin of the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Homophilic adhesion of the myelin P0 protein requires glycosylation of both molecules in the homophilic pair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Peripheral neuropathies caused by mutations in the myelin protein zero

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

The effects of a dominant connexin32 mutant in myelinating Schwann cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Krox-20 controls myelination in the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Elevated phosphatidylinositol 3,4,5-trisphosphate in glia triggers cell-autonomous membrane wrapping and myelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

An animal model for Charcot-Marie-Tooth disease type 4B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Regulation of the PMP22 gene through an intronic enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Antioxidants are necessary for myelination of dorsal root ganglion neurons, in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Increase of MCP-1 (CCL2) in myelin mutant Schwann cells is mediated by MEK-ERK signaling pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Interactions between Schwann cells and macrophages in injury and inherited demyelinating disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Lack of evidence for a pathogenic role of T-lymphocytes in an animal model for Charcot-Marie-Tooth disease 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Gadofluorine M-enhanced magnetic resonance nerve imaging: comparison between acute inflammatory and chronic degenerative demyelination in rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mammalian MAP kinase signalling cascades

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Vesicular demyelination induced by raised intracellular calcium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Response of Schwann cells to action potentials in development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

P2X7-mediated increased intracellular calcium causes functional derangement in Schwann cells from rats with CMT1A neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Modulation of neurodegeneration by molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Pharmacological induction of the heat shock response improves myelination in a neuropathic model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Curcumin inhibits formation of amyloid beta oligomers and fibrils, binds plaques, and reduces amyloid in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Neuroprotective effects of curcumin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

CHOP is implicated in programmed cell death in response to impaired function of the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Reliability and validity of the CMT neuropathy score as a measure of disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDS010

21 January 2018

Identifiers

DOI

10.1093/BMB/LDS010

1 reference

26 August 2017

1 reference

PubMed ID

22551516