Impaired Intracellular Trafficking Is a Common Disease Mechanism ofPMP22Point Mutations in Peripheral Neuropathies

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

1991 • 1,293 citations

Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve

1979 • 1,034 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

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

1991 • 587 citations

Defective protein folding as a basis of human disease

1995 • 540 citations

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

1992 • 497 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

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

Hereditary motor and sensory neuropathies.

1991 • 348 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

Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32

1997 • 312 citations

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

1992 • 295 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

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

1993 • 250 citations

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

1996 • 240 citations

Impaired Differentiation of Schwann Cells in Transgenic Mice with IncreasedPMP22Gene Dosage

1996 • 226 citations

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

1991 • 217 citations

Altered Trafficking of Mutant Connexin32

1997 • 211 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

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

1995 • 177 citations

Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice

1998 • 170 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

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

The biology and pathobiology of Schwann cells

1997 • 135 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

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

1998 • 124 citations

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

1995 • 123 citations

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

1987 • 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

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

1998 • 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

Charcot-Marie-Tooth disease and related peripheral neuropathies.

1997 • 106 citations

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

1996 • 104 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

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

Hereditary motor and sensory neuropathies

1993 • 89 citations

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

1997 • 73 citations

Molecular Genetics of Demyelination: New Wrinkles on an Old Membrane

1997 • 73 citations

Conservation of Topology, But Not Conformation, of the Proteolipid Proteins of the Myelin Sheath

1997 • 68 citations

Myelin mutants: Model systems for the study of normal and abnormal myelination

1996 • 66 citations

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

1996 • 63 citations

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

1997 • 59 citations

Programmed Cell Death in the Dysmyelinating Mutants

1995 • 58 citations

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

1997 • 57 citations

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

1995 • 57 citations

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

1995 • 56 citations

Mutations of connexin32 in charcot-marie-tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression

1998 • 55 citations

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

1995 • 52 citations

NGF/BDNF chimeric proteins: analysis of neurotrophin specificity by homolog-scanning mutagenesis

1992 • 50 citations

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

1997 • 50 citations

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

1995 • 50 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

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

1997 • 41 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 new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

1996 • 36 citations

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot‐Marie‐Tooth disease type 1a)

1993 • 32 citations

The status of HMSN type III

1994 • 29 citations

Peripheral Neuropathies

2011 • 5 citations

[Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)].

1995 • 1 citations