Publications by authors named "Isabel F Stehle"
Article Synopsis
- CRB1 and CRB2 are crucial genes associated with retinitis pigmentosa and Leber congenital amaurosis, diseases known for their varied clinical presentations.
- In experiments, CRB1 and CRB2 were found to co-localize in both human retinas and retinal organoids, indicating a significant interaction between the two proteins.
- Mutations in the extracellular domain of CRB1 or CRB2 only mildly affected their interaction, suggesting that their relationship is stable in the retinal context.
Alström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes, and truncal obesity. The ALMS1 gene encodes a complex and huge ∼0.5 MDa protein, which has hampered analysis in the past.
View Article and Find Full Text PDFThe intraflagellar transport (IFT) machinery is essential for cilia assembly, maintenance, and trans-localization of signaling proteins. The IFT machinery consists of two large multiprotein complexes, one of which is the IFT-B. TTC30A and TTC30B are integral components of this complex and were previously shown to have redundant functions in the context of IFT, preventing the disruption of IFT-B and, thus, having a severe ciliogenesis defect upon loss of one paralog.
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