Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

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• 作者：Dora C. Tărlungeanu¹ ; Elena Deliu¹ ; Christoph P. Dotter¹ ; Majdi Kara² ; Philipp Christoph Janiesch³ ; Mariafrancesca Scalise⁴ ; Michele Galluccio⁴ ; Mateja Tesulov¹ ; Emanuela Morelli¹ ; Fatma Mujgan Sonmez⁵ ; Kaya Bilguvar⁶ ; ⁷ ; Ryuichi Ohgaki⁸ ; Yoshikatsu Kanai⁸ ; Anide Johansen⁹ ; Seham Esharif² ; Tawfeg Ben-Omran¹⁰ ; Meral Topcu¹¹ ; Avner Schlessinger¹² ; Cesare Indiveri⁴ ; Kent E. Duncan³ ; Ahmet Okay Caglayan¹³ ; ¹⁴ ; Murat Gunel¹⁴ ; Joseph G. Gleeson⁹ ; Gaia Novarino¹ ; ¹⁵ ; ^{gnovarino@ist.ac.at}
• 关键词：ASD ; autism ; blood brain barrier ; motor deficits ; amino acid transporter ; excitation and inhibition imbalance
• 刊名：Cell
• 出版年：2016
• 出版时间：1 December 2016
• 年：2016
• 卷：167
• 期：6
• 页码：1481-1494.e18
• 全文大小：7934 K
• 卷排序：167

文摘

Slc7a5 is critical for maintaining normal brain BCAA levels Brain BCAA deficiency triggers neurobehavioral alterations in mice Patients with SLC7A5 mutations have ASD and motor delay Slc7a5 mutant mouse behavior is partially corrected by BCAA injections