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Cited by 11Hereditary Neurological DisordersPeripheral Neuropathies and DisordersNeurofibromatosis and Schwannoma Cases

The DOI matches its Crossref record; 54 of the 55 references it cites were found in a registry or an index.

Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D

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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.·2021·Neuromuscular Disorders
DOI 10.1016/j.nmd.2020.11.010
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Abstract

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 fiber preparations showed both demyelination and remyelination. Inclusions of filamentous material containing actin were present in adaxonal Schwann cell cytoplasm and Schmidt-Lanterman clefts. This condition strongly resembles the human Charcot-Marie-Tooth type 4D. However, the focally folded myelin with adaxonal infoldings segregating the axon found in this study are ultrastructural changes not described in the human disease. Furthermore, lipidomic analysis revealed a profound loss of peripheral nerve lipids. Our data suggest that the low levels of mutant NDRG1 is insufficient to support Schwann cells in maintaining myelin homeostasis.

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Crossref · 10.1016/j.nmd.2020.11.010

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Research works printed but not linked: 2

  1. Kalaydjieva, 1998, Hereditary motor and sensory neuropathy–Lom, a novel demyelinating neuropathy associated with deafness in gypsies, Clinical, electrophysiological and nerve biopsy findings. Brain, 121, 399
  2. Duncan, 1987, Hammang JPJJoN, Ultrastructural observations of organelle accumulation in the equine recurrent laryngeal nerve, 16, 269

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Metadata

Authors
Skedsmo, F. S., Espenes, A., Tranulis, M. A., Matiasek, K., Gunnes, G., Bjerkås, I., Moe, L., Røed, S. S., Berendt, M., Fredholm, M., Rohdin, C., Shelton, G. D., Bruheim, P., Stafsnes, M. H., Bartosova, Z., Hermansen, L. C., Stigen, Ø., & Jäderlund, K. H.
Affiliations
  • Norwegian University of Life Sciences (NO)
  • Ludwig-Maximilians-Universität München (DE)
  • University of Copenhagen (DK)
  • Swedish University of Agricultural Sciences (SE)
  • University of California San Diego (US)
  • Norwegian University of Science and Technology (NO)
Corresponding author
Skedsmo, Fredrik S.
ORCID
Venue
Neuromuscular Disorders
Publisher
Elsevier BV
Published
2021-01
Volume
31
Issue
1
Pages
56-68
ISSN
0960-8966 (ISSN-L)
DOI
10.1016/j.nmd.2020.11.010
OpenAlex
W3106927195
Cited by
11
References
55
Citations by year
2026: 3 · 2025: 4 · 2024: 1 · 2022: 3
FWCI
0.28
Type
journal article
Language
en
Open access
Licence
Locations
  • Neuromuscular Disorders (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
  • Epsilon Open Archive (Sveriges lantbruksuniversitet biblioteket (Swedish University of Agricultural Sciences)) (acceptedVersion)
  • NORA - Norwegian Open Research Archives (submittedVersion, other-oa)
  • NORA - Norwegian Open Research Archives (submittedVersion, cc-by)
Funders
  • Svenska Kennelklubben
  • Agria Djurförsäkring
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Health Sciences › Medicine › Clinical Neurology › Peripheral Neuropathies and Disorders
  • Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
Keywords
NDRG1, demyelinating neuropathy, Schwann cells, Alaskan Malamute, missense mutations, myelin homeostasis, remyelination, lipidomics, canine model, polyneuropathy
MeSH terms
N-myc Downstream-Regulated Gene 1 Protein, Animals, Charcot-Marie-Tooth Disease, Dog Diseases, Dogs, Female, Male, Mutation, Myelin Sheath, Polyneuropathies, Schwann Cells, Cell Cycle Proteins, Mutation, Missense, Intracellular Signaling Peptides and Proteins

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