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Progress toward Positional Cloning of Ovine Neuronal Ceroid Lipofuscinosis, a Model of the Human Late-Infantile Variant CLN6

✍ Scribed by Murray F. Broom; Chaoming Zhou; Diana F. Hill


Book ID
115639508
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
55 KB
Volume
66
Category
Article
ISSN
1096-7192

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Spectrum of CLN6 mutations in variant la
✍ Julie D. Sharp; Ruth B. Wheeler; Keith A. Parker; R. Mark Gardiner; Ruth E. Will πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 171 KB

The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta

Protein product of CLN6 gene responsible
✍ Jared W. Benedict; Amanda L. Getty; Thomas M. Wishart; Thomas H. Gillingwater; D πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 376 KB

## Abstract Mutations in __CLN6__ cause variant late‐onset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder resulting from aberrant neuronal cell loss and pathological accumulation of lysosomal autofluorescent storage material in the central nervous system. The direct