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Article

A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.

Brain : a journal of neurology - 4 Nov 2024

Odeh Maali, Sajrawi Clara, Majcher Adam, Zubedat Salman, Shaulov Lihi, Radzishevsky Alex, Mizrahi Liron, Chung Wendy K, Avital Avi, Hornemann Thorsten, Liebl Daniel J, Radzishevsky Inna, Wolosker Herman

Abstract excerpt

Mutations in the SLC1A4 transporter lead to neurodevelopmental impairments, spastic tetraplegia, thin corpus callosum and microcephaly in children. SLC1A4 catalyses obligatory amino acid exchange between neutral amino acids, but the physiopathology of SLC1A4 disease mutations and progressive microcephaly remain unclear. Here, we examined the phenotype and metabolic profile of three Slc1a4 mouse models: a...

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PMID: 38662784
DOI: 10.1093/brain/awae134
PMCID: PMC11531853

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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