Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.
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ABSTRACT:
SUBMITTER: Sadeh TT
PROVIDER: S-EPMC10188973 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
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Ca<sub>v</sub>1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.
Sadeh Tal T TT Baines Richard A RA Black Graeme C GC Manson Forbes F
Frontiers in cell and developmental biology 20230503
Pathogenic, generally loss-of-function, variants in <i>CACNA1F</i>, encoding the Ca<sub>v</sub>1.4α<sub>1</sub> calcium channel, underlie congenital stationary night blindness type 2 (CSNB2), a rare inherited retinal disorder associated with visual disability. To establish the underlying pathomechanism, we investigated 10 clinically derived <i>CACNA1F</i> missense variants located across pore-forming domains, connecting loops, and the carboxy-tail domain of the Ca<sub>v</sub>1.4α subunit. Homolo ...[more]
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