Article
Canine NAPEPLD-associated models of human myelin disorders.
Scientific reports - 11 Apr 2018
Minor K M, Letko A, Becker D, Drögemüller M, Mandigers P J J, Bellekom S R, Leegwater P A J, Stassen Q E M, Putschbach K, Fischer A, Flegel T, Matiasek K, Ekenstedt K J, Furrow E, Patterson E E, Platt S R, Kelly P A, Cassidy J P, Shelton G D, Lucot K, Bannasch D L, Martineau H, Muir C F, Priestnall S L, Henke D, Oevermann A, Jagannathan V, Mickelson J R, Drögemüller C
Abstract excerpt
Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense...
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