Article
Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D.
Neuromuscular disorders : NMD - 1 Jan 2021
Skedsmo Fredrik S, Espenes Arild, Tranulis Michael A, Matiasek Kaspar, Gunnes Gjermund, Bjerkås Inge, Moe Lars, Røed Susan Skogtvedt, Berendt Mette, Fredholm Merete, Rohdin Cecilia, Shelton G Diane, Bruheim Per, Stafsnes Marit H, Bartosova Zdenka, Hermansen Lene C, Stigen Øyvind, Jäderlund Karin H
Abstract excerpt
Mutations in the N-myc downstream-regulated gene 1 (NDRG1) cause degenerative polyneuropathy in ways that are poorly understood. We have investigated Alaskan Malamute dogs with neuropathy caused by a missense mutation in NDRG1. In affected animals, nerve levels of NDRG1 protein were reduced by more than 70% (p< 0.03). Nerve fibers were thinly myelinated, loss of large myelinated fibers was pronounced and teased...
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