Human pathology in NCL.
London, United Kingdom. In Biochim Biophys Acta, 2013
CLN1, CLN5, and CLN6, whilst autosomal-dominant adult NCL, now designated as CLN4, is caused by a newly identified separate gene, DNAJC5.
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Córdoba, Argentina. In Curr Pharm Biotechnol, 2011
Eight causal genes, CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8, CLN8, with more than 265 mutations and 38 polymorphisms (http://www.ucl.ac.uk/ncl) have been described.