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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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書誌詳細
出版年:Int J Mol Sci
主要な著者: Uusi-Rauva, Kristiina, Blom, Tea, von Schantz-Fant, Carina, Blom, Tomas, Jalanko, Anu, Kyttälä, Aija
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2017
主題:
オンライン・アクセス: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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