Many facets of the peripheral myelin protein PMP22 in myelination and disease

Inducible Gene Targeting in Mice

1995 • 1,897 citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

Genes specifically expressed at growth arrest of mammalian cells

1988 • 954 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells

1992 • 741 citations

Peripheral Neuropathy

1993 • 626 citations

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

1991 • 587 citations

Two new mutants, ‘trembler’ and ‘reeler’, with neurological actions in the house mouse (Mus musculus L.)

1951 • 517 citations

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 • 497 citations

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.

1994 • 482 citations

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

1992 • 422 citations

Trembler mouse carries a point mutation in a myelin gene

1992 • 418 citations

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

1996 • 415 citations

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

1992 • 398 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

1992 • 383 citations

A Transgenic Rat Model of Charcot-Marie-Tooth Disease

1996 • 366 citations

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 • 360 citations

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1994 • 313 citations

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

1992 • 295 citations

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

1996 • 291 citations

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

1992 • 286 citations

The phenotypic manifestations of chromosome 17p11.2 duplication

1997 • 282 citations

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1992 • 280 citations

A growth arrest-specific (gas) gene codes for a membrane protein.

1990 • 252 citations

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

1997 • 250 citations

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1993 • 250 citations

Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus

1994 • 243 citations

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

1996 • 240 citations

Abnormal myelination in transplanted Trembler mouse Schwann cells

1977 • 231 citations

Lens crystallins: gene recruitment and evolutionary dynamism

1993 • 228 citations

Impaired Differentiation of Schwann Cells in Transgenic Mice with IncreasedPMP22Gene Dosage

1996 • 226 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

A myelin protein is encoded by the homologue of a growth arrest-specific gene.

1991 • 217 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

1993 • 191 citations

Glycans and the modulation of neural-recognition molecule function

1995 • 189 citations

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.

1994 • 182 citations

Axon-regulated expression of a Schwann cell transcript that is homologous to a ‘growth arrest-specific’ gene.

1991 • 182 citations

Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth.

1995 • 181 citations

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1995 • 179 citations

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

1995 • 177 citations

Epithelial Membrane Protein-1, Peripheral Myelin Protein 22, and Lens Membrane Protein 20 Define a Novel Gene Family

1995 • 160 citations

Heterozygous Peripheral Myelin Protein 22-Deficient Mice Are Affected by a Progressive Demyelinating Tomaculous Neuropathy

1997 • 159 citations

Purification and partial characterization of two glycoproteins in bovine peripheral nerve myelin membrane

1976 • 157 citations

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1993 • 154 citations

Neurons Promote the Translocation of Peripheral Myelin Protein 22 into Myelin

1997 • 148 citations

Monoclonal Antibody O10 Defines a Conformationally Sensitive Cell-Surface Epitope of Proteolipid Protein (PLP): Evidence that PLP Misfolding Underlies Dysmyelination in Mutant Mice

1996 • 145 citations

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1997 • 138 citations

Cloning and characterization of MVP17: A developmentally regulated myelin protein in oligodendrocytes

1995 • 135 citations

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

1997 • 134 citations

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1996 • 131 citations

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

1993 • 131 citations

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

1993 • 126 citations

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1995 • 123 citations

Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system

1993 • 122 citations

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

1995 • 119 citations

Characterization of a rat gene, rMAL, encoding a protein with four hydrophobic domains in central and peripheral myelin

1995 • 117 citations

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

1998 • 114 citations

Nerve conduction studies in Charcot‐Marie‐Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1993 • 114 citations

Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man

1973 • 114 citations

Upregulation of the Endosomal-Lysosomal Pathway in the Trembler-J Neuropathy

1997 • 111 citations

Rapid Communication: Human Peripheral Myelin Protein‐22 Carries the L2/HNK‐1 Carbohydrate Adhesion Epitope

1993 • 110 citations

Aberrant Protein Trafficking inTremblerSuggests a Disease Mechanism for Hereditary Human Peripheral Neuropathies

1997 • 109 citations

Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication

1995 • 107 citations

Widespread expression of the peripheral myelin protein‐22 gene (pmp22) in neural and non‐neural tissues during murine development

1995 • 104 citations

Overloaded Endoplasmic Reticulum–Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

1998 • 104 citations

Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family

1996 • 104 citations

Hereditary hypertrophic neuropathy in the Trembler mouse

1976 • 103 citations

Comparison of Trembler and Trembler-J Mouse Phenotypes

1983 • 99 citations

Peripheral myelin protein 22: Facts and hypotheses

1995 • 99 citations

Peripheral Myelin Protein‐22 is Expressed in Rat and Mouse Brain and Spinal Cord Motoneurons

1995 • 97 citations

Isolation and characterization of a novel oligodendrocyte-specific protein

1996 • 93 citations

Hereditary motor and sensory neuropathies

1993 • 89 citations

Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype

1992 • 89 citations

Modulation of the axonal microtubule cytoskeleton by myelinating Schwann cells

1994 • 89 citations

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

1997 • 87 citations

COMMENTARY: Myotonic dystrophy reviewed: back to the future?

1994 • 85 citations

Regulation of expression of growth arrest-specific genes in mouse fibroblasts.

1990 • 81 citations

Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination

1994 • 77 citations

Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins

1996 • 77 citations

Hereditary demyelinating neuropathy in the Trembler mouse

1975 • 76 citations

Peripheral myelin protein‐22 expression in charcot‐marie‐tooth disease type 1a sural nerve biopsies

1994 • 74 citations

Animal models for inherited peripheral neuropathies

1997 • 74 citations

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

1997 • 73 citations

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

1997 • 73 citations

Hereditary hypertrophic neuropathy in the trembler mouse

1976 • 70 citations

The nature and time course of neuronal vacuolation induced by the N-methyl-D-aspartate antagonist MK-801

1994 • 66 citations

Ultrastructural Distribution of PMP22 in Charcot-Marie-Tooth Disease Type 1A

1996 • 63 citations

Long Lives for Homozygous Trembler Mutant Mice Despite Virtual Absence of Peripheral Nerve Myelin

1988 • 62 citations

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

1997 • 59 citations

Development of onion bulb neuropathy in the Trembler mouse

1975 • 59 citations

MP17, a fiber-specific intrinsic membrane protein from mammalian eye lens

1988 • 58 citations

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

1995 • 57 citations

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

1997 • 57 citations

Identification and Characterization of a cDNA and the Structural Gene Encoding the Mouse Epithelial Membrane Protein-1

1996 • 57 citations

Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22 Trembler on cell growth of NIH3T3 fibroblasts

1997 • 57 citations

Identification and Characterization of a Novel Squamous Cell-associated Gene Related to PMP22

1995 • 56 citations

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

1994 • 55 citations

Development of onion bulb neuropathy in the Trembler mouse

1976 • 54 citations

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

1995 • 52 citations

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

1979 • 51 citations

THE EVOLUTION OF ‘ONION BULBS’ IN THE HEREDITARY HYPERTROPHIC NEUROPATHY OF THE TREMBLER MOUSE

1977 • 51 citations

Molecular Basis of Common Hereditary Motor and Sensory Neuropathies in Humans and in Mouse Models

1995 • 50 citations

PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns

1997 • 50 citations

SCHWANN CELL MULTIPLICATION IN TREMBLER MICE

1981 • 50 citations

Myelin and lymphocyte protein (MAL/MVP17/VIP17) and plasmolipin are members of an extended gene family

1997 • 49 citations

Studies on the effects of altered PMP22 expression during myelination in vitro

1997 • 45 citations

HNMP-1: A Novel Hematopoietic and Neural Membrane Protein Differentially Regulated in Neural Development and Injury

1997 • 45 citations

Cloning and Expression of a Major Rat Lens Membrane Protein, M P20

1993 • 45 citations

X-ray diffraction study of myelin structure in immature and mutant mice

1976 • 44 citations

Abnormal Schwann cell/axon interactions in the Trembler‐J mouse

1997 • 41 citations

Ins and outs of peripheral myelin protein-22: Mapping transmembrane topology and intracellular sorting

1997 • 41 citations

Low affinity NGF receptor expression in CMT1 A nerve biopsies of different disease stages

1996 • 41 citations

An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the schwann cells in the new Trembler mutant mice

1997 • 40 citations

Structural Organization of the Lens Fiber Cell Plasma Membrane Protein MP18

1989 • 40 citations

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

1996 • 40 citations

A Transgenic Mouse Model for Human Hereditary Neuropathy with Liability to Pressure Palsies

1997 • 40 citations

Molecular cloning of plasmolipin. Characterization of a novel proteolipid restricted to brain and kidney.

1994 • 39 citations

Patients homozygous for the 17p 11.2 duplication in charcot‐marie‐tooth type 1A Disease

1997 • 37 citations

A Distinct Pattern of Trophic Factor Expression in Myelin-Deficient Nerves ofTremblerMice: Implications for Trophic Support by Schwann Cells

1996 • 37 citations

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

1996 • 36 citations

Myelin‐Associated Glycoprotein and Other Proteins in Trembler Mice

1985 • 36 citations

Distribution of P0 protein and the myelin-associated glycoprotein in peripheral nerves from Trembler mice

1991 • 34 citations

Absence ofPMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A

1996 • 32 citations

Full‐length Cloning, Expression and Cellular Localization of Rat Plasmolipin mRNA, a Proteolipid of PNS and CNS

1996 • 29 citations

B4B, a novel growth-arrest gene, is expressed by a subset of progenitor/pre-B lymphocytes negative for cytoplasmic mu-chain.

1996 • 26 citations

Clinical and Electrophysiological Phenotype of a Homozygously Duplicated Charcot-Marie-Tooth (Type 1A) Disease

1997 • 26 citations

Signaling pathways mediating axon-Schwann cell interactions

1994 • 26 citations

Expression of the ceramide galactosyltransferase gene during myelination of the mouse nervous system. comparison with the genes encoding myelin basic proteins, choline kinase and CTP:phosphocholine cytidylyltransferase

1994 • 25 citations

Redefining the lipophilin family of proteolipid proteins

1997 • 24 citations

Expression of the PMP-22 Gene in Trembler Mutant Mice: Comparison with the Other Myelin Protein Genes

1992 • 24 citations

The antibody repertoire in experimental allergic neuritis: evidence for PMP-22 as a novel neuritogen

1996 • 23 citations

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

1997 • 22 citations

Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms

1997 • 21 citations

Differential gene expression in human mammary carcinoma cells: identification of a new member of a receptor family.

1997 • 18 citations

Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2

1997 • 17 citations

Expression of the trembler mouse mutation in organotypic cultures of dorsal root ganglia

1982 • 17 citations

The myelin-associated glycoprotein of the peripheral nervous system in trembler mutants contains increased ?2-3 sialic acid and galactose

1996 • 15 citations

Po protein in normal, trembler heterozygous/homozygous mice during active PNS myelination

1992 • 12 citations

Sphingolipid Metabolic Disorders in Trembler Mouse Peripheral Nerves In Vivo Result from an Abnormal Substrate Supply

1995 • 11 citations

Expression of the exon 1A-containing PMP22 transcript is altered in the trembler mouse

1995 • 10 citations

Expression of molecular chaperones and vesicle transport proteins in differentiating oligodendrocytes

1997 • 10 citations

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with C Harcot‐Marie‐Tooth disease type 1A

1994 • 9 citations

Cerebroside formation in the peripheral nervous system of normal and Trembler mice

1995 • 7 citations

Peripheral Neuropathies

2020 • 6 citations

PATHWAYS OF INCORPORATION OF FATTY ACID INTO GLYCEROLIPIDS OF THE MURINE PERIPHERAL NERVOUS SYSTEM IN VIVO : ALTERATIONS IN THE DYSMYELINATING MUTANT TREMBLER MOUSE * *This work was carried out in the Laboratory of Membrane Biogenesis, C.N.R.S.-URA 1811, Université de Bordeaux II, 146, rue Léo Saignat, F-33076 Bordeaux cedex, France.

1996 • 4 citations