Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

LRP2-Gen

Das LRP2-Gen kodiert ein als Megalin Protein, welches insbesondere auf der luminalen Oberfläche der proximalen Tubuluszellen vorkommt und dort and der Absorption beteiligt ist. Mutationen im LRP2-Gens verursachen ein autosomal rezessives DBS- oder FOAR-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Donnai-Barrow-Syndrom
LRP2

Referenzen:

1.

Nykjaer A et. al. (1999) An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3.

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2.

Marinò M et. al. (1999) Serum antibodies against megalin (GP330) in patients with autoimmune thyroiditis.

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3.

Leheste JR et. al. (1999) Megalin knockout mice as an animal model of low molecular weight proteinuria.

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4.

Schmitz C et. al. (2002) Megalin deficiency offers protection from renal aminoglycoside accumulation.

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5.

Nykjaer A et. al. (2001) Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).

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6.

Chassaing N et. al. (2003) Donnai-Barrow syndrome: four additional patients.

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7.

Nagai M et. al. (2003) The adaptor protein ARH escorts megalin to and through endosomes.

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8.

Tramontano A et. al. (2004) Conformation and glycosylation of a megalin fragment correlate with nephritogenicity in Heymann nephritis.

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9.

Hammes A et. al. (2005) Role of endocytosis in cellular uptake of sex steroids.

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10.

Naccache SN et. al. (2006) Binding of internalized receptors to the PDZ domain of GIPC/synectin recruits myosin VI to endocytic vesicles.

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11.

Caruso-Neves C et. al. (2006) PKB and megalin determine the survival or death of renal proximal tubule cells.

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12.

Kantarci S et. al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

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13.

Saito A et al. (2010) Molecular mechanisms of receptor-mediated endocytosis in the renal proximal tubular epithelium.

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14.

Raychowdhury R et. al. (1989) Autoimmune target in Heymann nephritis is a glycoprotein with homology to the LDL receptor.

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15.

Chatelet F et. al. (1986) Ultrastructural localization by monoclonal antibodies of brush border antigens expressed by glomeruli. II. Extrarenal distribution.

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16.

Kerjaschki D et. al. (1983) Immunocytochemical localization of the Heymann nephritis antigen (GP330) in glomerular epithelial cells of normal Lewis rats.

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17.

Moestrup SK et. al. (1995) Evidence that epithelial glycoprotein 330/megalin mediates uptake of polybasic drugs.

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18.

Farquhar MG et. al. (1995) The Heymann nephritis antigenic complex: megalin (gp330) and RAP.

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19.

Chowdhary BP et. al. (1995) In situ hybridization mapping of a 500-kDa calcium-sensing protein gene (LRP2) to human chromosome region 2q31-->q32.1 and porcine chromosome region 15q22-->q24.

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20.

None (1995) The unfolding story of megalin (gp330): now recognized as a drug receptor.

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21.

Kounnas MZ et. al. (1995) Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin.

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22.

Saito A et. al. (1994) Complete cloning and sequencing of rat gp330/"megalin," a distinctive member of the low density lipoprotein receptor gene family.

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23.

Korenberg JR et. al. (1994) Chromosomal localization of human genes for the LDL receptor family member glycoprotein 330 (LRP2) and its associated protein RAP (LRPAP1).

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24.

Donnai D et. al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

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25.

Hjälm G et. al. (1996) Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties.

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26.

Willnow TE et. al. (1996) Defective forebrain development in mice lacking gp330/megalin.

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27.

Devriendt K et. al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

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