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
- 29 February 2008
- journal article
- Published by Elsevier BV in Neurobiology of Disease
- Vol. 29 (2), 306-315
- https://doi.org/10.1016/j.nbd.2007.09.006
Abstract
No abstract availableKeywords
This publication has 68 references indexed in Scilit:
- The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal TransporterAmerican Journal of Human Genetics, 2007
- The human urine mannose 6-phosphate glycoproteomeBiochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2007
- Activation of Non‐neuronal Cells within the Prenatal Developing Brain of Sheep with Neuronal Ceroid LipofuscinosisBrain Pathology, 2006
- Characterization of Candidate Genes for Neuronal Ceroid Lipofuscinosis in DogJournal of Heredity, 2005
- Localization of wild‐type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non‐neuronal and neuronal cellsJournal of Neuroscience Research, 2004
- Storage of saposins A and D in infantile neuronal ceroid‐lipofuscinosisFEBS Letters, 1993
- Construction and comparison of chromosome 21 radiation hybrid and linkage maps using CRI-MAPCytogenetic and Genome Research, 1992
- Extraction of DNA from sheep white blood cellsNew Zealand Journal of Agricultural Research, 1990
- A method of cerebro-cortical biopsy in lambsNew Zealand Veterinary Journal, 1989
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970