A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Molecular Genetics and Metabolism (2014)

Guo, J., Johnson GS, Brown, HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O’Brien DP, Katz ML. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Molecular Genetics and Metabolism, v. 112, n.4, 302-309, 2014.

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The neuronal ceroid lipofuscinoses (NCLs) are hereditary neurodegenerative diseases characterized by seizuresand progressive cognitive decline, motor impairment, and vision loss accompanied by accumulation of auto-fluorescent lysosomal storage bodies in the central nervous system and elsewhere in the body. Mutations in atleast 14 genes underlie the various forms of NCL. One of these genes,CLN8, encodes an intrinsic membraneprotein of unknown function that appears to be localized primarily to the endoplasmic reticulum.

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