Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter

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, epilepsy, and autism spectrum disorder. To gain insigh...

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Veröffentlicht in:	Biochemistry (Easton) 2020-04, Vol.59 (13), p.1367-1377
Hauptverfasser:	Salazar, Martin D, Zelt, Nathan B, Saldivar, Robert, Kuntz, Charles P, Chen, Sheng, Penn, Wesley D, Bonneau, Richard, Koehler Leman, Julia, Schlebach, Jonathan P
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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