TY  -  
T1  - Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses 
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UR  - http://hdl.handle.net/10138/203371 
T3  -  
A1  - Uusi-Rauva, Kristiina; Blom, Tea; von Schantz-Fant, Carina; Blom, Tomas; Jalanko, Anu; Kyttala, Aija 
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PB  -  
Y1  - 2017 
LA  - eng 
AB  - 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. To model NCL in human cells, we generated induced pluripotent stem cells (iPSCs) by reprogramming skin fibroblasts from a patient with CLN5 (ceroid lipofuscinosis, neuronal, 5) disease, the late infant... 
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KW  - CLN5; iPS cells; NCL; sphingolipid; lysosomal storage disease; JANSKY-BIELSCHOWSKY DISEASE; HUMAN NEUROBLASTOMA-CELLS; LATE INFANTILE NCL; BATTEN-DISEASE; CHOLESTEROL-METABOLISM; ATP SYNTHASE; PROTEIN; VARIANT; ACTIVATION; MUTATIONS; 3111 Biomedicine 
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