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Items: 3

1.
Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease
Nadia L. Mitchell, Katharina N. Russell, Martin P. Wellby, Hollie E. Wicky, Lucia Schoderboeck, Graham K. Barrell, Tracy R. Melzer, Steven J. Gray, Stephanie M. Hughes, David N. Palmer
Mol Ther. 2018 Oct 3; 26(10): 2366–2378. Published online 2018 Jul 17. doi: 10.1016/j.ymthe.2018.07.015
PMCID:
PMC6171082
AbstractArticlePDF–2.6M
2.
An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect
Yasir H. Qureshi, Vivek M. Patel, Diego E. Berman, Milankumar J. Kothiya, Jessica L. Neufeld, Badri Vardarajan, Min Tang, Dolly Reyes-Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne J. Jiménez-Velázquez, Scott A. Small, Christiane Reitz
Mol Cell Biol. 2018 Oct 15; 38(20): e00011-18. Prepublished online 2018 Jul 23. Published online 2018 Sep 28. doi: 10.1128/MCB.00011-18
PMCID:
PMC6168984
AbstractArticlePDF–2.6M
3.
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
M. Savukoski, M. Kestilä, R. Williams, I. Järvelä, J. Sharp, J. Harris, P. Santavuori, M. Gardiner, L. Peltonen
Am J Hum Genet. 1994 Oct; 55(4): 695–701.
PMCID:
PMC1918303
SummaryPage BrowsePDF–1.0M

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