Article

Modeling Retinitis Pigmentosa 59: <i>Dhdds</i> T206A and <i>Dhdds</i> K42E knock-in mutant mice are phenotypically similar

2025-01-15

Abstract excerpt

<h4>ABSTRACT</h4> D e h ydro d olichyl d iphosphate s ynthase (DHDDS) is an essential enzyme required for several forms of protein glycosylation in all eukaryotic cells. Surprisingly, three mutant alleles, ( Dhdds K42E/K42E (K42E/K42E), Dhdds T206A/K42E (T206A/K42E), and found in only one patient, Dhdds R98W/K42E (R98W/K42E) have been reported that cause non-syndromic retinitis pigmentosa (RP59), an inheri...

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Literature Corpus work: e02bbf3c-02b3-57a3-9d9b-a3e2b13cc084
DOI: 10.1101/2025.01.13.632845

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