Lysosomen-Membranprotein 2
Das vom SCARB2-Gen kodierte Protein ist ein Glycoprotein lysosomaler und endosomaler Membranen. Mutationen sind für das autosomal rezessive Myoclonus-Nephropathie-Syndrom verantwortlich, welches sich bei jungen Erwachsenen mit Epilepsie und Proteinurie manifestiert.
Diagnostik:
Krankheiten:
Referenzen:
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Fujita H et. al. (1992) Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells.
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Calvo D et. al. (1995) The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution.
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Gamp AC et. al. (2003) LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice.
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Badhwar A et. al. (2004) Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
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Reczek D et. al. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
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Berkovic SF et. al. (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
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Balreira A et. al. (2008) A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
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8. |
Yamayoshi S et. al. (2009) Scavenger receptor B2 is a cellular receptor for enterovirus 71.
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9. |
Costello DJ et. al. (2009) Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.
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10. |
Dibbens LM et. al. (2009) SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
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11. |
Blanz J et. al. (2010) Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
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12. |
Dibbens LM et. al. (2011) Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
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13. |
Jović M et. al. (2012) Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase.
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14. |
Neculai D et. al. (2013) Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36.
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Update: 23. Juni 2016