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

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 “...

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المؤلف الرئيسي:	Lara N. Gechijian (19865698) (author)
مؤلفون آخرون:	Giovanni Muncipinto (712719) (author), T. Justin Rettenmaier (1503352) (author), Matthew T. Labenski (1971112) (author), Victor Rusu (19865701) (author), Lea Rosskamp (19865704) (author), Leslie Conway (262028) (author), Daniel van Kalken (19277907) (author), Liam Gross (19865707) (author), Gianna Iantosca (19865710) (author), William Crotty (19865713) (author), Robert Mathis (19865716) (author), Hyejin Park (331233) (author), Benjamin Rabin (14000694) (author), Christina Westgate (19865719) (author), Matthew Lyons (19865722) (author), Chloe Deshusses (19865725) (author), Nicholas Brandon (2105707) (author), Dean G. Brown (1261668) (author), Heather S. Blanchette (19865728) (author), Nicholas Pullen (19865731) (author), Lyn H. Jones (465244) (author), Joel C. Barrish (1429858) (author)
منشور في:	2024
الموضوعات:	Biophysics Biochemistry Medicine Cell Biology Genetics Molecular Biology Neuroscience Pharmacology Cancer Mental Health Plant Biology Chemical Sciences not elsewhere classified selected missense alleles linked intellectual disability irreversible covalent analogs heterozygous female mice endogenous setting using defined variant knocked cftr ion channel 10 – 20 transformational therapeutic impact identify reversible drug novel chemoproteomic technology potential therapeutic approach like small molecules could stabilize slc6a8 identify small molecules mutant slc6a8 variants identify small therapeutic opportunity novel corrector slc6a8 locus revealed molecules vivo proof profiled across potential treatment photoaffinity handles patient mutations p544l patient orally bioavailable mutated versions molecule fragments medicinal chemistry ligand discovery functional assays cystic fibrosis current treatments crispr knock could promote cellular environment cell surface
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Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency

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