Article
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.
Oncotarget - 15 Nov 2016
Lim Su Min, Choi Byung-Ok, Oh Seong-Il, Choi Won Jun, Oh Ki-Wook, Nahm Minyeop, Xue Yuanchao, Choi Jae Hyeok, Choi Ji Young, Kim Young-Eun, Chung Ki Wha, Fu Xiang-Dong, Ki Chang-Seok, Kim Seung Hyun
Abstract excerpt
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by defective β-galactosylceramidase (GALC), a lysosomal enzyme responsible for cleavage of several key substrates including psychosine. Accumulation of psychosine to the cytotoxic levels in KD patients is thought to cause dysfunctions in myelinating glial cells based on a comprehensive study of demyelination in KD. However, recent...
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