Elsevier

The Lancet

Volume 351, Issue 9109, 11 April 1998, Pages 1103-1104
The Lancet

Research Letters
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa

https://doi.org/10.1016/S0140-6736(05)79384-3Get rights and content

References (5)

There are more references available in the full text version of this article.

Cited by (72)

  • Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease

    2019, Current Biology
    Citation Excerpt :

    Structure/function assays would shed light on K407 biochemical roles in binding Tulp3 cargoes. Interestingly, sequencing studies have identified a recessive mutation affecting the homologous lysine in the related gene Tulp1 in a ciliopathy patient with retinitis pigmentosa [26]. These findings suggest that K407 is a critical residue for tubby domain function in cargo binding.

  • Ribbon Synapses and Retinal Disease: Review

    2023, International Journal of Molecular Sciences
View all citing articles on Scopus
View full text