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Page 1
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Sohocki MM, et al. Among authors: saperstein da. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. Hum Mutat. 2001. PMID: 11139241 Free PMC article.
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).
Scholl HP, Moore AT, Koenekoop RK, Wen Y, Fishman GA, van den Born LI, Bittner A, Bowles K, Fletcher EC, Collison FT, Dagnelie G, Degli Eposti S, Michaelides M, Saperstein DA, Schuchard RA, Barnes C, Zein W, Zobor D, Birch DG, Mendola JD, Zrenner E; RET IRD 01 Study Group. Scholl HP, et al. Among authors: saperstein da. PLoS One. 2015 Dec 10;10(12):e0143846. doi: 10.1371/journal.pone.0143846. eCollection 2015. PLoS One. 2015. PMID: 26656277 Free PMC article. Clinical Trial.
Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.
Zhu L, Imanishi Y, Filipek S, Alekseev A, Jastrzebska B, Sun W, Saperstein DA, Palczewski K. Zhu L, et al. Among authors: saperstein da. J Biol Chem. 2006 Aug 4;281(31):22289-22298. doi: 10.1074/jbc.M602664200. Epub 2006 May 31. J Biol Chem. 2006. PMID: 16737970 Free PMC article.
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA. Koenekoop RK, et al. Among authors: saperstein da. Lancet. 2014 Oct 25;384(9953):1513-20. doi: 10.1016/S0140-6736(14)60153-7. Epub 2014 Jul 13. Lancet. 2014. PMID: 25030840 Clinical Trial.
Rhodopsin signaling and organization in heterozygote rhodopsin knockout mice.
Liang Y, Fotiadis D, Maeda T, Maeda A, Modzelewska A, Filipek S, Saperstein DA, Engel A, Palczewski K. Liang Y, et al. Among authors: saperstein da. J Biol Chem. 2004 Nov 12;279(46):48189-96. doi: 10.1074/jbc.M408362200. Epub 2004 Aug 26. J Biol Chem. 2004. PMID: 15337746 Free PMC article.
Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo.
Maeda A, Maeda T, Imanishi Y, Kuksa V, Alekseev A, Bronson JD, Zhang H, Zhu L, Sun W, Saperstein DA, Rieke F, Baehr W, Palczewski K. Maeda A, et al. Among authors: saperstein da. J Biol Chem. 2005 May 13;280(19):18822-32. doi: 10.1074/jbc.M501757200. Epub 2005 Mar 8. J Biol Chem. 2005. PMID: 15755727 Free PMC article.
The G protein-coupled receptor rhodopsin in the native membrane.
Fotiadis D, Liang Y, Filipek S, Saperstein DA, Engel A, Palczewski K. Fotiadis D, et al. Among authors: saperstein da. FEBS Lett. 2004 Apr 30;564(3):281-288. doi: 10.1016/S0014-5793(04)00194-2. FEBS Lett. 2004. PMID: 15111110 Free PMC article.
38 results