Article

A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission

2022-10-03

Abstract excerpt

Retinitis pigmentosa (RP) defines a group of hereditary progressive rod-cone degenerations that exhibit a common phenotype caused by mutations in over 70 genes. While most mutations in the dehydrodolichyl diphosphate synthase (DHDDS) gene result in syndromic abnormalities, some mutations cause non-syndromic RP (RP59). DHDDS encodes one subunit of the enzyme cis -prenyltransferase (CPT), which is required for the s...

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Literature Corpus work: 49231fe0-13de-5814-bc8b-b97cd1f218ec
DOI: 10.21203/rs.3.rs-2054399/v1

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