Article
Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders.
Human molecular genetics - 1 Oct 2015
Chandra Goutam, Bagh Maria B, Peng Shiyong, Saha Arjun, Sarkar Chinmoy, Moralle Matthew, Zhang Zhongjian, Mukherjee Anil B
Abstract excerpt
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 infantile NCL (INCL) and congenital NCL (CNCL) are the most lethal. Although inactivating mutations in the CLN1 gene encoding...
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