Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders

Neurodegeneration is a devastating manifestation in the majority of >50 lysosomal storage disorders (LSDs). Neuronal ceroid lipofuscinoses (NCLs) are the most common childhood neurodegenerative LSDs. Mutations in 13 different genes (called CLNs) underlie various types of NCLs, of which the infant...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Chandra, Goutam, Bagh, Maria B., Peng, Shiyong, Saha, Arjun, Sarkar, Chinmoy, Moralle, Matthew, Zhang, Zhongjian, Mukherjee, Anil B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4572073/
https://ncbi.nlm.nih.gov/pubmed/26160911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv266
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