Azad B et al. Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. J Neurol Sci. 2020;414:116826. PMID: 32302805.
De Silva B et al. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015;338(1):45-53. doi: 10.1016/j.yexcr.2015.08.021. PMID: 26342652.
Kollmann K et al. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Review. Biochim Biophys Acta. 2013;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. PMID: 23402926.
Schmiedt ML et al. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. Hum Mutat. 2010;31(3):356-65. doi: 10.1002/humu.21195. PMID: 20052765.
Williams RE et al. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547. PMID: 22778232.
Xin W et al. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology. 2010;74(7):565-71. doi: 10.1212/WNL.0b013e3181cff70d. PMID: 20157158.
CLN5