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Article

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

27 Jan 2022

Abstract excerpt

Abstract CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage neurodegenerative disease highly prevalent in children. CLN7/MFSD8 gene encodes a lysosomal membrane glycoprotein, but the biochemical processes affected by CLN7-loss of function are unexplored thus preventing development of potential treatments. Here, we found, in the Cln7 ∆ex2 mouse model of CLN7 disease, that failure in autophagy...

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PMID: 35087090
DOI: 10.1038/s41467-022-28191-1

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