Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.

doi:10.1021/acschembio.4c00571

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Article

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.

ACS chemical biology - 15 Nov 2024

Gechijian Lara N, Muncipinto Giovanni, Rettenmaier T Justin, Labenski Matthew T, Rusu Victor, Rosskamp Lea, Conway Leslie, van Kalken Daniel, Gross Liam, Iantosca Gianna, Crotty William, Mathis Robert, Park Hyejin, Rabin Benjamin, Westgate Christina, Lyons Matthew, Deshusses Chloe, Brandon Nicholas, Brown Dean G, Blanchette Heather S, Pullen Nicholas, Jones Lyn H, Barrish Joel C

Abstract excerpt

Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need. Inspired by the transformational therapeutic impact of small molecule "correctors" for the treatment of cystic fibrosis, which bind to mutated versions of the CFTR ion channel to promote...

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PMID: 39418577
DOI: 10.1021/acschembio.4c00571
PMCID: PMC11574759

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