Mutations in <i>SLC1A4</i>, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; A Picoraro, Joseph; Shaag, Avraham; T Cho, Megan; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; G Pappas, John; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; A Hediger, Matthias; K Chung, Wendy; Elpeleg, Orly; Edvardson, Simon

doi:10.1136/jmedgenet-2015-103104

Public

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Shared by NobleBlocks on Jun 3, 2015 • 12:00 AM UTC

Authors:

Nadirah Damseh

Alexandre Simonin

Chaim Jalas

Abstract

Background L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the blood–brain barrier. Within the brain, its synthesis is confined to astrocytes, and its shuttle...

Discussions