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Article

Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.

Molecular genetics and metabolism - 1 Aug 2016

Ashwini Akanksha, D'Angelo Antonio, Yamato Osamu, Giordano Cristina, Cagnotti Giulia, Harcourt-Brown Tom, Mhlanga-Mutangadura Tendai, Guo Juyuan, Johnson Gary S, Katz Martin L

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are hereditary neurodegenerative disorders characterized by progressive declines in neurological functions, seizures, and premature death. NCLs result from mutations in at least 13 different genes. Canine versions of the NCLs can serve as important models in developing effective therapeutic interventions for these diseases. NCLs have been described in a number of dog...

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Source

Identifiers

PMID: 27211611
DOI: 10.1016/j.ymgme.2016.05.008

Genes

NCL
MFSD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.PMID 27211611Read ↗

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