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

The Biogenesis of Lysosomes

1989 • 1,583 citations

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

1974 • 874 citations

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

1992 • 493 citations

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

1991 • 492 citations

Immunoelectron microscopic localization of neural cell adhesion molecules (L1, N-CAM, and MAG) and their shared carbohydrate epitope and myelin basic protein in developing sciatic nerve.

1986 • 482 citations

Identification of two lysosomal membrane glycoproteins.

1985 • 475 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

Crystal Structure of the Extracellular Domain from P0, the Major Structural Protein of Peripheral Nerve Myelin

1996 • 412 citations

A Transgenic Rat Model of Charcot-Marie-Tooth Disease

1996 • 366 citations

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

1996 • 362 citations

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 • 360 citations

Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: Evidence for early up-regulation of the endosomal-lysosomal system

1995 • 359 citations

Myelinated nerve fibres in the CNS

1993 • 351 citations

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

1995 • 314 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

Protein zero of peripheral nerve myelin: Biosynthesis, membrane insertion, and evidence for homotypic interaction

1990 • 276 citations

Impaired Differentiation of Schwann Cells in Transgenic Mice with IncreasedPMP22Gene Dosage

1996 • 226 citations

Cellular and molecular aspects of myelin protein gene expression

1988 • 224 citations

Presence of the myelin-associated glycoprotein correlates with alterations in the periodicity of peripheral myelin.

1982 • 207 citations

Kinetics of intracellular transport and sorting of lysosomal membrane and plasma membrane proteins.

1987 • 197 citations

Degradation of proteins within the endoplasmic reticulum

1991 • 191 citations

Recombinant myelin-associated glycoprotein confers neural adhesion and neurite outgrowth function

1989 • 190 citations

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1995 • 179 citations

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport

1994 • 159 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

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

1995 • 123 citations

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

1993 • 114 citations

Redistribution of mannose-6-phosphate receptors induced by tunicamycin and chloroquine.

1984 • 114 citations

Morphometric Analysis of Normal, Mutant, and Transgenic CNS: Correlation of Myelin Basic Protein Expression to Myelinogenesis

1992 • 111 citations

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

1997 • 109 citations

Uniform slowing of conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1

1993 • 107 citations

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system.

1995 • 105 citations

Comparison of Trembler and Trembler-J Mouse Phenotypes

1983 • 99 citations

Peripheral myelin protein 22: Facts and hypotheses

1995 • 99 citations

Neurological mouse mutants and the genes of myelin

1994 • 97 citations

Intracellular protein trafficking defects in human disease

1992 • 96 citations

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

1994 • 74 citations

Penetrance of the hereditary motor and sensory neuropathy la mutation

1991 • 74 citations

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

1988 • 62 citations

Proteolipid protein interactions in transfectants: Implications for myelin assembly

1994 • 62 citations

Myelin Basic Protein Deposition in the Optic and Sciatic Nerves of Dysmyelinating Mutants Quaking, Jimpy, Trembler, MLD, and Shiverer During Development

1983 • 62 citations

Development of onion bulb neuropathy in the Trembler mouse

1976 • 54 citations

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

1977 • 51 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

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

1992 • 24 citations

The Murine Mutation Trembler-J: Proof of Semidominant Expression by Use of the Linked Vestigial Tail Marker

1983 • 23 citations

The Biogenesis Of Lysosomes

1989 • 14 citations

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

1992 • 12 citations