Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

Abstract Background Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and late-infantile NCL (LINCL) is due to mutations in the TPP1 gene. Defi...

Full description

Bibliographic Details
Main Authors: Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie, Wei Zheng
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neuronal ceroid lipofuscinosis
INCL
LINCL
Lysosomal storage disease
Induced pluripotent stem cells
Neural stem cells
Online Access:http://link.springer.com/article/10.1186/s13023-018-0798-2

Internet

http://link.springer.com/article/10.1186/s13023-018-0798-2

Similar Items