Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

Author:

Dardis Andrea,Filocamo Mirella,Grossi Serena,Ciana Giovanni,Franceschetti Silvana,Dominissini Silvia,Rubboli Guido,Di Rocco Maya,Bembi Bruno

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference13 articles.

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2. Isolation and sequencing of a cDNA clone encoding the 85kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells;Fujita;Biochem. Biophys. Res. Commun.,1992

3. Lysosomal membrane glycoproteins. Structure, biosynthesis, and intracellular trafficking;Fukuda;J. Biol. Chem.,1991

4. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase;Reczek;Cell,2007

5. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am. J. Hum. Genet.,2008

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