Literature summary for 3.2.1.46 extracted from

Jang, D.S.; Ye, W.; Guimei, T.; Solomon, M.; Southall, N.; Hu, X.; Marugan, J.; Ferrer, M.; Maegawa, G.H.
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbes disease (2016), J. Neurosci. Res., 94, 1231-1245 .

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Application

Application	Comment	Organism
drug development	enhancers of beta-galactocerebrosidase are identified as potential small molecules therapies for Krabbe's disease	Homo sapiens
medicine	enhancers of beta-galactocerebrosidase are identified as potential small molecules therapies for Krabbe Disease	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
a specific neurologically relevant murine cell-line (145M-Twi) is modified to express common human hGALC-G270D mutant	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Homo sapiens	5764	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P54803	-	-

General Information

General Information	Comment	Organism
malfunction	Krabbe disease is a lysosomal storage disease caused by the deficiency of the lysosomal enzyme beta-galactocerebrosidase, resulting in severe neurological manifestations related to demyelination secondary to elevated galactosylsphingosine (psychosine) with its subsequent cytotoxicity	Homo sapiens

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Release 2023.1 (January 2023)