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Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease

Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in...

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Hoofdauteurs: Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B. Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Japan Society for Cell Biology 2023-12-01
Reeks:Cell Structure and Function
Onderwerpen:
glucosylceramide
lysosome
gaucher disease
lysosomotropic agent
Online toegang:https://www.jstage.jst.go.jp/article/csf/49/1/49_23066/_html/-char/en
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