Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease

Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which leads to progressive demyelination in both the cen...

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Bibliographic Details
Main Authors: Diego Iacono, Shunsuke Koga, Hui Peng, Arulmani Manavalan, Jessica Daiker, Monica Castanedes-Casey, Nicholas B. Martin, Aimee R. Herdt, Michael H. Gelb, Dennis W. Dickson, Chris W. Lee
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:Neurobiology of Disease
Subjects:
Krabbe disease
Globoid cell leukodystrophy
Galactosylceramidase
Oligodendrocyte
Psychosine
Cerebral white matter
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996122002546

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http://www.sciencedirect.com/science/article/pii/S0969996122002546

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