Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease (Q36507183)

14 August 2017

1 reference

title

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease (English)

1 reference

14 August 2017

Axel Niemann

1

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Philipp Berger

object named as

Philipp Berger

series ordinal

2

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Ueli Suter

series ordinal

3

object named as

Ueli Suter

1 reference

14 August 2017

publication date

1 January 2006

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14 August 2017

published in

NeuroMolecular Medicine

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14 August 2017

volume

8

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14 August 2017

issue

1-2

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14 August 2017

page(s)

217-242

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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

14 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

On the molecular architecture of myelinated fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

Functional gap junctions in the schwann cell myelin sheath

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mitochondrial fission in apoptosis, neurodegeneration and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The transcription factor Sox10 is a key regulator of peripheral glial development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Foot and mouth: podosomes, invadopodia and circular dorsal ruffles

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mitochondrial dynamics in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Disruption of fusion results in mitochondrial heterogeneity and dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Chromatin motion is constrained by association with nuclear compartments in human cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

OPA1 requires mitofusin 1 to promote mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Studies on the mechanisms of autophagy: formation of the autophagic vacuole

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The myelinated axon is dependent on the myelinating cell for support and maintenance: molecules involved.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Laminins and their receptors in Schwann cells and hereditary neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Characterization of the Effect on Adhesion of Different Mutations in Myelin P0 Protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Proteolipid protein is necessary in peripheral as well as central myelin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

FYVE fingers bind PtdIns(3)P

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Rab7 is required for the normal progression of the autophagic pathway in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Molecular motors and mechanisms of directional transport in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Dynamics and mechanics of the microtubule plus end

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

A-type lamins: guardians of the soma?

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Schwann cells and their precursors emerge as major regulators of nerve development

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Signals that determine Schwann cell identity

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The peripheral myelin protein 22 and epithelial membrane protein family

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

SOX10 Maintains Multipotency and Inhibits Neuronal Differentiation of Neural Crest Stem Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Structural basis of mitochondrial tethering by mitofusin complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Functions of intermediate filaments in neuronal development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Nab proteins are essential for peripheral nervous system myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

A small heat shock protein stably binds heat-denatured model substrates and can maintain a substrate in a folding-competent state

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Neurofilaments are obligate heteropolymers in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The effect of myelinating Schwann cells on axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The role of dynamin in the assembly and function of podosomes and invadopodia

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Connexin32-containing gap junctions in Schwann cells at the internodal zone of partial myelin compaction and in Schmidt-Lanterman incisures

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Axonal neuregulin-1 regulates myelin sheath thickness

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Structural organization and functions of the nucleus in development, aging, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

PMP22 accumulation in aggresomes: implications for CMT1A pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Dynamin at the actin-membrane interface

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Krox-20 inhibits Jun-NH2-terminal kinase/c-Jun to control Schwann cell proliferation and death

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Protein zero gene expression is regulated by the glial transcription factor Sox10

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mitochondrial fusion and fission in the control of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The local differentiation of myelinated axons at nodes of Ranvier

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The dynamin superfamily: universal membrane tubulation and fission molecules?

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Real-time analysis of clathrin-mediated endocytosis during cell migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Modulation of epithelial morphology, monolayer permeability, and cell migration by growth arrest specific 3/peripheral myelin protein 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The temporospatial expression of peripheral myelin protein 22 at the developing blood-nerve and blood-brain barriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Alzheimer's disease and the 'ABSENT' hypothesis: mechanism for amyloid beta endothelial and neuronal toxicity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Polarized domains of myelinated axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Recent progress on the molecular organization of myelinated axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Localization and insulin-regulated relocation of phosphoinositide 5-kinase PIKfyve in 3T3-L1 adipocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Charcot-Marie-Tooth disease: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The BACK domain in BTB-kelch proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Association of N-myc downregulated gene 1 with heat-shock cognate protein 70 in mast cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Interaction of human HSP22 (HSPB8) with other small heat shock proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The small heat shock proteins and their role in human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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/10.1385%2FNMM%3A8%3A1-2%3A217

Disease mechanisms in inherited neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Krox-20 controls myelination in the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Rab7 associates with early endosomes to mediate sorting and transport of Semliki forest virus to late endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

The interaction of neurofilaments with the microtubule motor cytoplasmic dynein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Aminoacyl-tRNA synthetases, the genetic code, and the evolutionary process

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Subunit composition of neurofilaments specifies axonal diameter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Schwann cell myelination requires timely and precise targeting of P(0) protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A217

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2

21 January 2018

1 reference

12 December 2020

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

1 reference

12 December 2020

Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele

1 reference

12 December 2020

Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22

1 reference

12 December 2020

Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: new facts and hypotheses

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies

1 reference

12 December 2020

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases

1 reference

12 December 2020

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

1 reference

12 December 2020

Emerging role for autophagy in the removal of aggresomes in Schwann cells.

1 reference

12 December 2020

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

12 December 2020

Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model

1 reference

12 December 2020

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

1 reference

12 December 2020

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

1 reference

12 December 2020

Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage

1 reference

12 December 2020

1 reference

12 December 2020

Altered molecular architecture of peripheral nerves in mice lacking the peripheral myelin protein 22 or connexin32

1 reference

12 December 2020

Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling

1 reference

12 December 2020

Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?

1 reference

12 December 2020

Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice

1 reference

12 December 2020

Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin

1 reference

12 December 2020

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

1 reference

12 December 2020

Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom

1 reference

12 December 2020

P0 and PMP22 mark a multipotent neural crest-derived cell type that displays community effects in response to TGF-beta family factors.

1 reference

12 December 2020

Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.

1 reference

12 December 2020

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

1 reference

12 December 2020

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

1 reference

12 December 2020

Membrane topology of peripheral myelin protein 22

1 reference

12 December 2020

Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells

1 reference

12 December 2020

Control of mitochondrial morphology by a human mitofusin

1 reference

12 December 2020

Structure of the Tsg101 UEV domain in complex with the PTAP motif of the HIV-1 p6 protein

1 reference

12 December 2020

Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction

1 reference

12 December 2020

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

1 reference

12 December 2020

Neurons promote the translocation of peripheral myelin protein 22 into myelin

1 reference

12 December 2020

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

1 reference

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:217

1 reference

Dimensions Publication ID

14 August 2017

1034724958

0 references

1 reference