P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.

PubWeight™: 0.82‹?›

🔗 View Article (PMC 3009926)

Published in J Biol Chem on October 11, 2010

Authors

Robin L Avila1, Maurizio D'Antonio, Angela Bachi, Hideyo Inouye, M Laura Feltri, Lawrence Wrabetz, Daniel A Kirschner

Author Affiliations

1: Biology Department, Boston College, Chestnut Hill, Massachusetts 02467-3811, USA.

Articles cited by this

Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels. Anal Chem (1996) 45.70

Very fast empirical prediction and rationalization of protein pKa values. Proteins (2005) 8.61

Myelination in rat brain: method of myelin isolation. J Neurochem (1973) 4.01

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron (2008) 2.95

Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell (1992) 2.80

Constitutively active Akt induces enhanced myelination in the CNS. J Neurosci (2008) 2.60

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron (1996) 2.25

KINETICS OF PAPAIN-CATALYZED HYDROLYSIS OF ALPHA-N-BENZOYL-L-ARGININE ETHYL ESTER AND ALPHA-N-BENZOYL-L-ARGININAMIDE. J Am Chem Soc (1965) 2.13

Phenotypic clustering in MPZ mutations. Brain (2004) 1.94

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell (1992) 1.68

Effect of cysteine-25 on the ionization of histidine-159 in papain as determined by proton nuclear magnetic resonance spectroscopy. Evidence for a his-159--Cys-25 ion pair and its possible role in catalysis. Biochemistry (1981) 1.64

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron (1996) 1.58

A procedure for quantitative determination of tris(2-carboxyethyl)phosphine, an odorless reducing agent more stable and effective than dithiothreitol. Anal Biochem (1994) 1.58

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol (2000) 1.55

Trembler mouse carries a point mutation in a myelin gene. Nature (1992) 1.51

Axonal pathology in myelin disorders. J Neurocytol (2000) 1.43

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A (1992) 1.36

Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci (2006) 1.34

Reduction of biological substances by water-soluble phosphines: gamma-globulin (IgG). Experientia (1969) 1.28

A classical enzyme active center motif lacks catalytic competence until modulated electrostatically. Biochemistry (1997) 1.26

Evolution of a neuroprotective function of central nervous system myelin. J Cell Biol (2006) 1.25

Membrane interactions in nerve myelin. I. Determination of surface charge from effects of pH and ionic strength on period. Biophys J (1988) 1.21

Compact myelin exists in the absence of basic protein in the shiverer mutant mouse. Nature (1980) 1.20

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet (1993) 1.16

Structure and stability of internodal myelin in mouse models of hereditary neuropathy. J Neuropathol Exp Neurol (2005) 1.16

Mechanism of chalcone synthase. pKa of the catalytic cysteine and the role of the conserved histidine in a plant polyketide synthase. J Biol Chem (2000) 1.13

Abnormal myelination in transplanted Trembler mouse Schwann cells. Nature (1977) 1.12

Membrane structure in isolated and intact myelins. Biophys J (1989) 1.11

Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J Neurosci (1995) 1.08

Potentiometric determination of ionizations at the active site of papain. Biochemistry (1976) 1.07

The effect of myelinating Schwann cells on axons. Muscle Nerve (2001) 1.03

Schwann cell myelination requires timely and precise targeting of P(0) protein. J Cell Biol (2000) 1.03

Internodal myelination during development quantitated using X-ray diffraction. J Struct Biol (2009) 1.02

Myelin structure transformed by dimethylsulfoxide. Proc Natl Acad Sci U S A (1975) 1.00

The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain (1987) 1.00

Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. Neurology (1994) 0.93

Processing for electron microscopy alters membrane structure and packing in myelin. J Ultrastruct Res (1980) 0.93

Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions. J Neurosci (1990) 0.92

Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol (2002) 0.90

Myelin membrane structure and composition correlated: a phylogenetic study. J Neurochem (1989) 0.89

Changes in axon size and slow axonal transport are related in experimental diabetic neuropathy. Neurology (1988) 0.88

Myelin P0-glycoprotein: predicted structure and interactions of extracellular domain. J Neurochem (1993) 0.85

Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to P0 molecular defects. J Neurosci Res (1996) 0.84

Experimental diabetic neuropathy: similar changes of slow axonal transport and axonal size in different animal models. J Neurosci (1988) 0.84

Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain. J Neurosci Res (1994) 0.79

Membrane flow within the myelin sheath in IDPN neuropathy. Neuropathol Appl Neurobiol (1991) 0.79

Articles by these authors

Monocytic cells hyperacetylate chromatin protein HMGB1 to redirect it towards secretion. EMBO J (2003) 6.46

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron (2008) 2.95

Mutually exclusive redox forms of HMGB1 promote cell recruitment or proinflammatory cytokine release. J Exp Med (2012) 2.89

Constitutively active Akt induces enhanced myelination in the CNS. J Neurosci (2008) 2.60

RBM5/Luca-15/H37 regulates Fas alternative splice site pairing after exon definition. Mol Cell (2008) 2.39

Identification by redox proteomics of glutathionylated proteins in oxidatively stressed human T lymphocytes. Proc Natl Acad Sci U S A (2002) 2.35

Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons. J Cell Biol (2002) 2.35

HMGB1 promotes recruitment of inflammatory cells to damaged tissues by forming a complex with CXCL12 and signaling via CXCR4. J Exp Med (2012) 2.35

c-Jun is a negative regulator of myelination. J Cell Biol (2008) 2.27

ERp44, a novel endoplasmic reticulum folding assistant of the thioredoxin family. EMBO J (2002) 1.98

Thiol-mediated protein retention in the endoplasmic reticulum: the role of ERp44. EMBO J (2003) 1.96

Signals to promote myelin formation and repair. Nat Rev Neurol (2010) 1.95

Notch controls embryonic Schwann cell differentiation, postnatal myelination and adult plasticity. Nat Neurosci (2009) 1.93

Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Neuron (2003) 1.80

Beta1 integrin activates Rac1 in Schwann cells to generate radial lamellae during axonal sorting and myelination. J Cell Biol (2007) 1.77

Molecular mechanisms of inherited demyelinating neuropathies. Glia (2008) 1.68

Src kinase phosphorylates Caspase-8 on Tyr380: a novel mechanism of apoptosis suppression. EMBO J (2006) 1.64

Crystal structure of mouse CD1d bound to the self ligand phosphatidylcholine: a molecular basis for NKT cell activation. J Immunol (2005) 1.61

Regulated exocytosis: a novel, widely expressed system. Nat Cell Biol (2002) 1.61

Krox-20 inhibits Jun-NH2-terminal kinase/c-Jun to control Schwann cell proliferation and death. J Cell Biol (2004) 1.60

Schwann cell-specific ablation of laminin gamma1 causes apoptosis and prevents proliferation. J Neurosci (2005) 1.58

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol (2004) 1.53

Purified box C/D snoRNPs are able to reproduce site-specific 2'-O-methylation of target RNA in vitro. Mol Cell Biol (2002) 1.50

beta-amyloid is different in normal aging and in Alzheimer disease. J Biol Chem (2005) 1.48

The formation of straight and twisted filaments from short tau peptides. J Biol Chem (2004) 1.43

Spontaneous formation of L-isoaspartate and gain of function in fibronectin. J Biol Chem (2006) 1.39

Direct regulation of myelin protein zero expression by the Egr2 transactivator. J Biol Chem (2005) 1.36

Attenuation of miR-126 activity expands HSC in vivo without exhaustion. Cell Stem Cell (2012) 1.35

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nat Cell Biol (2012) 1.34

Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci (2006) 1.34

Schwann cells expressing dismutase active mutant SOD1 unexpectedly slow disease progression in ALS mice. Proc Natl Acad Sci U S A (2009) 1.33

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier. J Neurosci (2005) 1.30

Evolution of a neuroprotective function of central nervous system myelin. J Cell Biol (2006) 1.25

Polyglutamine homopolymers having 8-45 residues form slablike beta-crystallite assemblies. Proteins (2005) 1.22

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci (2005) 1.22

Expression of laminin receptors in schwann cell differentiation: evidence for distinct roles. J Neurosci (2003) 1.20

The stem cell secretome and its role in brain repair. Biochimie (2013) 1.19

MicroRNA-deficient Schwann cells display congenital hypomyelination. J Neurosci (2010) 1.19

A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice. Mol Ther (2013) 1.19

In vivo detection of Egr2 binding to target genes during peripheral nerve myelination. J Neurochem (2006) 1.19

Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination. J Neurochem (2005) 1.17

Actin polymerization is essential for myelin sheath fragmentation during Wallerian degeneration. J Neurosci (2011) 1.17

Structure and stability of internodal myelin in mouse models of hereditary neuropathy. J Neuropathol Exp Neurol (2005) 1.16

Proteomics reveals novel oxidative and glycolytic mechanisms in type 1 diabetic patients' skin which are normalized by kidney-pancreas transplantation. PLoS One (2010) 1.14

TACE (ADAM17) inhibits Schwann cell myelination. Nat Neurosci (2011) 1.14

Alpha6beta4 integrin and dystroglycan cooperate to stabilize the myelin sheath. J Neurosci (2008) 1.14

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. J Neurosci (2009) 1.13

Active gene repression by the Egr2.NAB complex during peripheral nerve myelination. J Biol Chem (2008) 1.13

Formation of amyloid fibrils in vitro by human gammaD-crystallin and its isolated domains. Mol Vis (2008) 1.13

Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. J Exp Med (2013) 1.13

Proteomic analysis of protein S-nitrosylation. Proteomics (2008) 1.12

Laminins and their receptors in Schwann cells and hereditary neuropathies. J Peripher Nerv Syst (2005) 1.11

Biochemical function of female-lethal (2)D/Wilms' tumor suppressor-1-associated proteins in alternative pre-mRNA splicing. J Biol Chem (2002) 1.11

Structure of core domain of fibril-forming PHF/Tau fragments. Biophys J (2005) 1.09

Filaments of the Ure2p prion protein have a cross-beta core structure. J Struct Biol (2005) 1.09

A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. J Neurosci (2009) 1.08

CHOP and the endoplasmic reticulum stress response in myelinating glia. Curr Opin Neurobiol (2009) 1.07

Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein. J Biol Chem (2003) 1.06

Cotinine reduces amyloid-β aggregation and improves memory in Alzheimer's disease mice. J Alzheimers Dis (2011) 1.05

SCAP is required for timely and proper myelin membrane synthesis. Proc Natl Acad Sci U S A (2009) 1.05

Proteomics analysis of nucleolar SUMO-1 target proteins upon proteasome inhibition. Mol Cell Proteomics (2009) 1.05

Critical role of flanking residues in NGR-to-isoDGR transition and CD13/integrin receptor switching. J Biol Chem (2010) 1.05

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain (2012) 1.05

p160 Myb-binding protein interacts with Prep1 and inhibits its transcriptional activity. Mol Cell Biol (2007) 1.04

Identification of immunodominant regions among promiscuous HLA-DR-restricted CD4+ T-cell epitopes on the tumor antigen MAGE-3. Blood (2002) 1.04

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain (2012) 1.04

The final N-terminal trimming of a subaminoterminal proline-containing HLA class I-restricted antigenic peptide in the cytosol is mediated by two peptidases. J Immunol (2002) 1.04

HS1 has a central role in the trafficking and homing of leukemic B cells. Blood (2010) 1.03

Titanium dioxide coated MALDI plate for on target analysis of phosphopeptides. J Proteome Res (2009) 1.03

Proteome study of human cerebrospinal fluid following traumatic brain injury indicates fibrin(ogen) degradation products as trauma-associated markers. J Neurotrauma (2004) 1.03