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Impairment of serine transport across the blood-brain barrier by deletion of Slc38a5 causes developmental delay and motor dysfunction.
Proc Natl Acad Sci U S A. 2023 Oct 17;120(42):e2302780120. doi: 10.1073/pnas.2302780120. Epub 2023 Oct 9.
Proc Natl Acad Sci U S A. 2023.
PMID: 37812701
Free PMC article.
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.
Odeh M, Sajrawi C, Majcher A, Zubedat S, Shaulov L, Radzishevsky A, Mizrahi L, Chung WK, Avital A, Hornemann T, Liebl DJ, Radzishevsky I, Wolosker H.
Odeh M, et al. Among authors: radzishevsky a.
Brain. 2024 Apr 25:awae134. doi: 10.1093/brain/awae134. Online ahead of print.
Brain. 2024.
PMID: 38662784
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