Results 71 to 80 of about 1,441 (115)

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting. [PDF]

Epilepsy Curr
Lillis KP.
europepmc   +1 more source

Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect. [PDF]

Am J Med Genet A
Perreault J, Porter FD, Nowaczyk MJM.
europepmc   +1 more source

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency. [PDF]

Int J Mol Sci
Binsfeld R, Webster T, Tkachyova I, Tropak M, Mitchell M, Peretti T, Schulze A, Walia JS.   +7 more
europepmc   +1 more source

Genetic Determinants of Creatine Bioavailability and Responsiveness: Emphasis on Common Low-Impact Variants.

Lifestyle Genom
Ostojic SM, Kavecan I.
europepmc   +1 more source

Identification of core genes in systemic juvenile idiopathic arthritis based on 113 machine learning algorithms. [PDF]

Medicine (Baltimore)
Chen Q, Zeng J, Tang H, Sun Y, Wu H, Huang X, Man YN, Li B, He ML, He ML.   +9 more
europepmc   +1 more source

Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum. [PDF]

J Clin Med
Bayanova M, Nazarova L, Zhakupov A, Malik D, Gabdulkayum A, Mirmanova Z, Satvaldina N, Rakhimova S, Akilzhanova A, Yerezhepov D, Bolatov A.   +10 more
europepmc   +1 more source

YY1 Lactylation Elicits CARD9 Deficiency in Dendritic Cells Promoting Pancreatic Cancer Immune Escape. [PDF]

Int J Biol Sci
Ding L, Tian C, Feng Y, Xu R, Li S, Zheng M, Wang X, Xu Q, Xiang M.   +8 more
europepmc   +1 more source

Integrative Multi-Omics Analysis Unveils Candidate Genes and Functional Variants for Growth and Reproductive Traits in Duroc Pigs. [PDF]

Animals (Basel)
Yan Z, Li X, Yang W, Zhou P, Zhang W, Li X, Fu L, Li J, Du X.   +8 more
europepmc   +1 more source

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT). [PDF]

Proc Natl Acad Sci U S A
Yuan X, Yin J, Liu C, Chen X, Chen M, Wang Y, Yang Z, Wang Y, Jiang L, Zhou N, Wang X, Liu B, Ma Z, Wang K, Li H, Zhang S, Shang Y, Yang M.   +17 more
europepmc   +1 more source

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

ACS Chem Biol
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC.   +22 more
europepmc   +1 more source