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

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. Deficiency i...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Sima, Ni, Li, Rong, Huang, Wei, Xu, Miao, Beers, Jeanette, Zou, Jizhong, Titus, Steven, Ottinger, Elizabeth A., Marugan, Juan J., Xie, Xing, Zheng, Wei
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891977/
https://ncbi.nlm.nih.gov/pubmed/29631617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0798-2
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