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Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
Shen M, Yang G, Chen Z, Yang K, Dong H, Yin C, Cheng Y, Zhang C, Gu F, Yang Y, Tian Y. Shen M, et al. Clin Chim Acta. 2022 Jul 1;532:29-36. doi: 10.1016/j.cca.2022.05.006. Epub 2022 May 16. Clin Chim Acta. 2022. PMID: 35588794 Free article.
A total of 12 variants were identified in this cohort, including six novel ones. The frequency of these variants, the Revel scores and the conservatism of the affected amino acids support their pathogenicity. ...
A total of 12 variants were identified in this cohort, including six novel ones. The frequency of these variants, the Revel scores an …
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A. Thistlethwaite LR, et al. Sci Rep. 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. Sci Rep. 2022. PMID: 35449147 Free PMC article.
We employed CTD, an automated computational diagnostic method that "connects the dots" between metabolite perturbations observed in individual metabolomics profiling data and modules identified in disease-specific metabolite co-perturbation networks learned from prior prof …
We employed CTD, an automated computational diagnostic method that "connects the dots" between metabolite perturbations observed in i …
Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
Salazar MD, Zelt NB, Saldivar R, Kuntz CP, Chen S, Penn WD, Bonneau R, Koehler Leman J, Schlebach JP. Salazar MD, et al. Biochemistry. 2020 Apr 7;59(13):1367-1377. doi: 10.1021/acs.biochem.9b00956. Epub 2020 Mar 30. Biochemistry. 2020. PMID: 32207963
More than 80 loss-of-function (LOF) mutations in the SLC6A8 creatine transporter (hCRT1) are responsible for cerebral creatine deficiency syndrome (CCDS), which gives rise to a spectrum of neurological defects, including intellectual disability, epilep …
More than 80 loss-of-function (LOF) mutations in the SLC6A8 creatine transporter (hCRT1) are responsible for cerebral creatine …