期刊
NEUROBIOLOGY OF DISEASE
卷 29, 期 2, 页码 306-315出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.nbd.2007.09.006
关键词
CLN5; NCL; Batten disease; mRNA splicing; animal model; Borderdale sheep; lysosomal storage disease
资金
- NINDS NIH HHS [NS 40297, R21 NS040297-02, R21 NS040297-01, R21 NS040297-01S1, R21 NS040297-03S1, R21 NS040297-03] Funding Source: Medline
Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and seizures, leading to premature death. To date, eight different genes have been identified, each associated with a different form. Linkage analysis indicated a CLN5 form in a colony of affected New Zealand Borderdale sheep. Sequencing. studies established the disease-causing mutation to be a substitution at a consensus splice site (c.571+1G>A), leading to the excision of exon 3 and a truncated putative protein. A molecular diagnostic test has been developed based on the excision of exon 3. Sequence alignments support the gene product being a soluble lysosomal protein. Western blotting of isolated storage bodies indicates the specific storage of subunit c of mitochondrial ATP synthase. This flock is being expanded as a large animal model for mechanistic studies and trial therapies. (C) 2007 Elsevier Inc. All rights reserved.
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