Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype

Author:

Liou Benjamin,Zhang Wujuan,Fannin Venette,Quinn Brian,Ran Huimin,Xu Kui,Setchell Kenneth D. R.,Witte David,Grabowski Gregory A.,Sun Ying

Funder

U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases

U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Reference65 articles.

1. Grabowski, G. A., Petsko, G. A. & Kolodny, E. H. In The Online Metabolic and Molecular Bases of Inherited Diseases (eds Valle, D. et al.) Ch. 146, (The McGraw-Hill Companies, Inc., 2010).

2. Grabowski, G. A. et al. In The Metabolic and Molecular Bases of Inherited Diseases (eds Scriver, C. R. et al.) (McGraw-Hill, 2006).

3. Petrucci, S., Consoli, F. & Valente, E. M. Parkinson Disease Genetics: A “Continuum” From Mendelian to Multifactorial Inheritance. Curr Mol Med (2014).

4. Beutler, E. & Grabowski, G. A. In The Metabolic and Molecular Basis of Inherited Disease Vol. III (eds Scriver, C. R., Beaudet, A. L., Sly, W. S., & Valle, D.) 3635–3668 (McGraw-Hill, 2001).

5. Hruska, K. S., LaMarca, M. E., Scott, C. R. & Sidransky, E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29, 567–583, https://doi.org/10.1002/humu.20676 (2008).

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