Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
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G. Rubboli | S. Franceschetti | B. Bembi | S. Grossi | M. Filocamo | A. Dardis | S. Dominissini | G. Ciana | M. Di rocco
[1] Jorge E Azevedo,et al. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. , 2008, Human molecular genetics.
[2] R. D'Hooge,et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. , 2008, American journal of human genetics.
[3] P. Saftig,et al. LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase , 2007, Cell.
[4] G. Avanzini,et al. Rhythmic cortical myoclonus in Niemann–Pick disease type C , 2006, Movement disorders : official journal of the Movement Disorder Society.
[5] F. Andermann,et al. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. , 2004, Brain : a journal of neurology.
[6] R. Schiffmann,et al. Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient Subgroup , 2003, Pediatric Research.
[7] S. Regis,et al. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients , 2002, Human mutation.
[8] M. Fukuda. Lysosomal Membrane Glycoproteins , 2001 .
[9] C. Hollak,et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. , 1994, The Journal of clinical investigation.
[10] K. Kato,et al. Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells. , 1992, Biochemical and biophysical research communications.
[11] M. Fukuda,et al. Lysosomal membrane glycoproteins. Structure, biosynthesis, and intracellular trafficking. , 1991, The Journal of biological chemistry.
[12] R. Van Tiggelen,et al. Gaucher disease , 2019, Haematology.
[13] R. Brady,et al. Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[14] S. Raghavan,et al. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. , 1980, American journal of human genetics.