Article
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Human genetics - 1 Jan 2022
Mir Ali, Almudhry Montaha, Alghamdi Fouad, Albaradie Raidah, Ibrahim Mona, Aldurayhim Fatimah, Alhedaithy Abdullah, Alamr Mushari, Bawazir Maryam, Mohammad Sahar, Abdelhay Salma, Bashir Shahid, Housawi Yousef
Abstract excerpt
The uptake and efflux of solutes across a plasma membrane is controlled by transporters. There are two main superfamilies of transporters, adenosine 5'-triphosphate (ATP) binding cassettes (ABCs) and solute carriers (SLCs). In the brain, SLC transporters are involved in transporting various solutes across the blood-brain barrier, blood-cerebrospinal fluid barrier, astrocytes, neurons, and other brain cell types...
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