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; Barak, Yaacov; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; J. Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; 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

Published in Journal of Medical Genetics • Jun 3, 2015

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 shuttl...

Subject

Serine

Microcephaly

Transporter

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