A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>>>A) leading to excision of exon 3
Author:
Publisher
Elsevier BV
Subject
Neurology
Reference66 articles.
1. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency;Bessa;Mol. Genet. Metab.,2006
2. Mechanisms of alternative pre-messenger RNA splicing;Black;Ann. Rev. Biochem.,2003
3. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis;Cannelli;Neuropediatrics,2007
4. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis;Cao;J. Biol. Chem.,2006
5. Lysine 43 is trimethylated in subunit c from bovine mitochondrial ATP synthase and in storage bodies associated with Batten disease;Chen;J. Biol. Chem.,2004
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