Interaction with ERp57 is required for progranulin protection against Type 2 Gaucher disease
Author:
Affiliation:
1. Department of Orthopaedic Surgery, New York University Grossman School of Medicine, New York, New York, USA.
2. Department of Cell Biology, New York University Grossman School of Medicine, New York, New York, USA.
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine,Health (social science)
Link
https://www.jstage.jst.go.jp/article/bst/17/2/17_2023.01022/_pdf
Reference45 articles.
1. 1. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat. 2000; 15:181-188.
2. 2. Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. J Hum Genet. 2015; 60:285.
3. 3. Platt FM. Sphingolipid lysosomal storage disorders. Nature. 2014; 510:68-75.
4. 4. Chen Y, Sud N, Hettinghouse A, Liu CJ. Molecular regulations and therapeutic targets of Gaucher disease. Cytokine Growth Factor Rev. 2018; 41:65-74.
5. 5. Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Mol Genet Metab. 2017; 120:8-21.
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2. Progranulinopathy: A diverse realm of disorders linked to progranulin imbalances;Cytokine & Growth Factor Reviews;2023-11
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