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

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 poorly understood. T...

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Udgivet i:Int J Mol Sci
Main Authors: Uusi-Rauva, Kristiina, Blom, Tea, von Schantz-Fant, Carina, Blom, Tomas, Jalanko, Anu, Kyttälä, Aija
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454868/
https://ncbi.nlm.nih.gov/pubmed/28468312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18050955
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