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Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses

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Published in 2017 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms18050955

Abstract: Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive progressive encephalopathies caused by mutations in at least 14 different genes. Despite extensive studies performed in different NCL animal models, the molecular mechanisms underlying neurodegeneration in NCLs remain… read more here.

Keywords: cln5 patient; neuronal ceroid; ceroid lipofuscinoses; pluripotent stem ... See more keywords