Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes

• 主要な著者: Rafael Franco (著者), Juan A. Sánchez-Arias (著者), Gemma Navarro (著者), José L. Lanciego (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2018-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Gaucher's disease (GD) is the most prevalent lysosomal storage disorder. GD is caused by homozygous mutations of the GBA1 gene, which codes for beta-glucocerebrosidase (GCase). Although GD primarily affects peripheral tissues, the presence of neurological symptoms has been reported in several G...