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

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1989 • 7,496 citations

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1990 • 1,756 citations

Alzheimer–associated presenilins 1 and 2 : Neuronal expression in brain and localization to intracellular membranes in mammalian cells

1996 • 549 citations

Defective protein folding as a basis of human disease

1995 • 540 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

Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP.

1994 • 397 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

The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment.

1993 • 335 citations

The ER-overload response: activation of NF-κB

1997 • 334 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

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

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

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

1997 • 111 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

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

1995 • 104 citations

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

1997 • 73 citations

Endoplasmicreticulum-induced signal transduction and gene expression

1997 • 64 citations

Improved culture methods to expand schwann cells with altered growth behaviour from CMT1A patients

1998 • 60 citations

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

1997 • 45 citations

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

1997 • 41 citations

Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A

1996 • 38 citations

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

1997 • 21 citations