An ever-expanding story of cyst formation
Autosomal-dominant polycystic kidney disease represents one of the most common monogenetic human disorders. The cloning of the PKD1 and PKD2 genes, which are mutated in far more than 90% of the patients affected by this disease, has generated high hopes for a quick understanding of the pathogenesis...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
28 April 2000
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| In: |
Cell & tissue research
Year: 2000, Volume: 300, Issue: 3, Pages: 361-371 |
| ISSN: | 1432-0878 |
| DOI: | 10.1007/s004410000215 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s004410000215
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| Author Notes: | Anna Rachel Gallagher, Nicholas Obermüller, Anna Cedzich, Norbert Gretz, Ralph Witzgall |
| Summary: | Autosomal-dominant polycystic kidney disease represents one of the most common monogenetic human disorders. The cloning of the PKD1 and PKD2 genes, which are mutated in far more than 90% of the patients affected by this disease, has generated high hopes for a quick understanding of the pathogenesis of cyst formation. However, these expectations have not yet been fulfilled, since the function of both polycystin-1 and polycystin-2, the two proteins encoded by PKD1 and PKD2, still remains a puzzle. In this review, we will highlight some of the characteristics of polycystic kidney disease, briefly touch on polycystin-1, and then go on to describe recent results of experiments with polycystin-2, since the latter is the major focus of our work. We will discuss new evidence which suggests that autosomal-dominant polycystic kidney disease actually behaves recessively on a cellular level. Finally, a model will be presented that tries to explain the available data. |
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| Item Description: | Gesehen am 28.06.2022 |
| Physical Description: | Online Resource |
| ISSN: | 1432-0878 |
| DOI: | 10.1007/s004410000215 |