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

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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محفوظ في:
التفاصيل البيبلوغرافية
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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