Article
Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells.
Endocrinology - 1 Sept 2010
Lochmatter Didier, Strom Molly, Eblé André, Petkovic Vibor, Flück Christa E, Bidlingmaier Martin, Robinson Iain C, Mullis Primus E
Abstract excerpt
Isolated GH deficiency type II (IGHD II) is the autosomal dominant form of GHD. In the majority of the cases, this disorder is due to specific GH-1 gene mutations that lead to mRNA missplicing and subsequent loss of exon 3 sequences. When misspliced RNA is translated, it produces a toxic 17.5-kDa GH (Delta3GH) isoform that reduces the accumulation and secretion of wild-type-GH. At present, patients suffering from...
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