[HTML][HTML] A Gly98Val Mutation in the N-Myc Downstream Regulated Gene 1 (NDRG1) in Alaskan Malamutes with Polyneuropathy

CS Bruun, KH J�derlund, M Berendt, KB Jensen…�- …�One, 2013 - journals.plos.org
… that the entire NDRG1 protein is highly … the mutation that causes polyneuropathy in Alaskan
Malamutes. Our characterization of a novel candidate causative mutation for polyneuropathy

[HTML][HTML] Re-emergence of hereditary polyneuropathy in Scandinavian Alaskan malamute dogs—old enemy or new entity? A case series

KH J�derlund, C Rohdin, M Berendt, � Stigen…�- Acta Veterinaria�…, 2017 - Springer
… to be homozygous for a mutation in the N-myc downstream-regulated gene 1 (NDRG1) [4]. …
They were clinically diagnosed with AM polyneuropathy, as described by Bruun et al. [4]. …

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

FS Skedsmo, A Espenes, MA Tranulis…�- Neuromuscular�…, 2021 - Elsevier
… investigated Alaskan Malamute dogs with neuropathy caused … neuropathies caused by
mutations in N-myc downstream-… Gly98Val) [3]. Clinically, the disease is slowly progressive and …

[HTML][HTML] Cell and context-dependent sorting of neuropathy-associated protein NDRG1–insights from canine tissues and primary Schwann cell cultures

FS Skedsmo, MA Tranulis, A Espenes, K Prydz…�- BMC veterinary�…, 2019 - Springer
… The N-myc downstream-regulated gene 1 (NDRG1) was first … Alaskan malamute dog
homozygous for a disease-causing Gly98Val mutation in NDRG1 (hereafter called NDRG1 mut/mut …

Polyneuropathy in young Siberian Huskies caused by degenerative and inflammatory diseases

H Jahns, KM Vernau, CM Nolan…�- Veterinary�…, 2020 - journals.sagepub.com
… ) had been tested for NDRG1 (Gly98Val; Exon 4) previously. … to polyneuropathy in breeds
such as the Alaskan Malamute 6 … tested negative for the Alaskan Malamute mutation. This is …

CMT4D (NDRG1 mutation): genotype–phenotype correlations

E Ricard, S Mathis, C Magdelaine…�- Journal of the�…, 2013 - Wiley Online Library
… with a mutation of N-myc downstream-regulated gene 1 (NDRG1) responsible … a Gly98Val
mutation of NDRG1 associated to a polyneuropathy has been reported in Alaskan Malamutes

[HTML][HTML] Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Y Okamoto, MT Goksungur, D Pehlivan, CR Beck…�- Genetics in�…, 2014 - nature.com
… CNV of NDRG1 causing hereditary motor and sensory neuropathy-… R361SerfsX60) and a
single-nucleotide variant mutation (… and Alaskan Malamute pedigrees with polyneuropathy. AR …

[HTML][HTML] A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

D Becker, KM Minor, A Letko, KJ Ekenstedt…�- BMC genomics, 2017 - Springer
… -associated gene (NDRG1) in Greyhounds [6] and Alaskan Malamuteone copy of the GJA9
mutant allele to determine age of onset and penetrance of the mutant allele (Additional file 1

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

S Correard, J Plassais, L Lagoutte, N Botherel…�- Human Genetics, 2019 - Springer
… of 3 to 19 months for the Alaskan malamute; between 3 and 9 months … mutations were
identified in the NDRG1 gene (N-myc downstream regulated 1): a G–T point mutation for Alaskan

[HTML][HTML] An ARHGEF10 Deletion Is Highly Associated with a Juvenile-Onset Inherited Polyneuropathy in Leonberger and Saint Bernard Dogs

KJ Ekenstedt, D Becker, KM Minor, GD Shelton…�- PLoS�…, 2014 - journals.plos.org
… ] and Alaskan Malamutes [8] with early-onset polyneuropathy … -onset peripheral neuropathies
with a known genetic basis in … recessive conditions due to mutations in the NDRG1 gene [7]…