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

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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Bibliographic Details
Main Authors: Kristiina Uusi-Rauva, Tea Blom, Carina von Schantz-Fant, Tomas Blom, Anu Jalanko, Aija Kyttälä
Format: Article
Language:English
Published: MDPI AG 2017-05-01
Series:International Journal of Molecular Sciences
Subjects:
CLN5
iPS cells
NCL
sphingolipid
lysosomal storage disease
Online Access:http://www.mdpi.com/1422-0067/18/5/955

Internet

http://www.mdpi.com/1422-0067/18/5/955

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