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Article

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.

Human molecular genetics - 18 Apr 2024

Aljammal Rawaa, Saravanan Thamaraiselvi, Guan Tongju, Rhodes Scott, Robichaux Michael A, Ramamurthy Visvanathan

Abstract excerpt

Mutations in Cytosolic Carboxypeptidase-like Protein 5 (CCP5) are associated with vision loss in humans. To decipher the mechanisms behind CCP5-associated blindness, we generated a novel mouse model lacking CCP5. In this model, we found that increased tubulin glutamylation led to progressive cone-rod dystrophy, with cones showing a more pronounced and earlier functional loss than rod photoreceptors. The observed...

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PMID: 38297980
DOI: 10.1093/hmg/ddae013

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Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.PMID 38297980Read ↗

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