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Role of EHD1 in Renal Proximal Tubular Endocytosis and Recycling

URN to cite this document:
urn:nbn:de:bvb:355-epub-367130
DOI to cite this document:
10.5283/epub.36713
Afonso, Sara Cerqueira
Date of publication of this fulltext: 17 Sep 2021 07:48


Abstract (English)

Our co-worker Robert Kleta (University College London) examined 6 patients displaying hereditary mild low-molecular-weight proteinuria and hearing loss at high frequency range. Using linkage analysis and sequencing, Robert Kleta identified a new autosomal recessive mutation leading to a single amino acid substitution — R398W — in the C terminal Eps15 homology domain (EHD) 1 protein. In mammals, ...

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Translation of the abstract (German)

Unser Kooperationspartner Robert Kleta, University College London, hat sechs Patienten mit familiärer "low molecular weight" Proteinurie und beeinträchtigtem Hörvermögen klinisch und genetisch untersucht. Mittels Kopplungsanalysen und DNA-Sequenzierung gelang es ihm, eine krankheitsassoziierte, autosomal rezessive Mutation (R398W) im CTerminus des "Eps15 Homology Domain (EHD) 1"-Proteins zu ...

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