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

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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. / Tărlungeanu, Dora C; Deliu, Elena; Dotter, Christoph P; Kara, Majdi; Janiesch, Phillipp Christoph; Scalise, Mariafrancesca; Galluccio, Michele; Tesulov, Mateja; Morelli, Emanuela; Sonmez, Fatma Mujgan; Bilguvar, Kaya; Ohgaki, Ryuichi; Kanai, Yoshikatsu; Johansen, Anide; Esharif, Seham; Ben-Omran, Tawfeg; Topcu, Meral; Schlessinger, Avner; Indiveri, Cesare; Duncan, Kent E; Caglayan, Ahmet Okay; Gunel, Murat; Gleeson, Joseph G; Novarino, Gaia.

in: CELL, Jahrgang 167, Nr. 6, 01.12.2016, S. 1481-1494.e18.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Tărlungeanu, DC, Deliu, E, Dotter, CP, Kara, M, Janiesch, PC, Scalise, M, Galluccio, M, Tesulov, M, Morelli, E, Sonmez, FM, Bilguvar, K, Ohgaki, R, Kanai, Y, Johansen, A, Esharif, S, Ben-Omran, T, Topcu, M, Schlessinger, A, Indiveri, C, Duncan, KE, Caglayan, AO, Gunel, M, Gleeson, JG & Novarino, G 2016, 'Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder', CELL, Jg. 167, Nr. 6, S. 1481-1494.e18. https://doi.org/10.1016/j.cell.2016.11.013

APA

Tărlungeanu, D. C., Deliu, E., Dotter, C. P., Kara, M., Janiesch, P. C., Scalise, M., Galluccio, M., Tesulov, M., Morelli, E., Sonmez, F. M., Bilguvar, K., Ohgaki, R., Kanai, Y., Johansen, A., Esharif, S., Ben-Omran, T., Topcu, M., Schlessinger, A., Indiveri, C., ... Novarino, G. (2016). Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. CELL, 167(6), 1481-1494.e18. https://doi.org/10.1016/j.cell.2016.11.013

Vancouver

Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M et al. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. CELL. 2016 Dez 1;167(6):1481-1494.e18. https://doi.org/10.1016/j.cell.2016.11.013

Bibtex

@article{dbb7397c8bce40eb8e0687dc00e3f1da,
title = "Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder",
abstract = "Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities. Furthermore, we identified several patients with autistic traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate a neurological syndrome defined by SLC7A5 mutations and support an essential role for the BCAA in human brain function.",
author = "T{\u a}rlungeanu, {Dora C} and Elena Deliu and Dotter, {Christoph P} and Majdi Kara and Janiesch, {Phillipp Christoph} and Mariafrancesca Scalise and Michele Galluccio and Mateja Tesulov and Emanuela Morelli and Sonmez, {Fatma Mujgan} and Kaya Bilguvar and Ryuichi Ohgaki and Yoshikatsu Kanai and Anide Johansen and Seham Esharif and Tawfeg Ben-Omran and Meral Topcu and Avner Schlessinger and Cesare Indiveri and Duncan, {Kent E} and Caglayan, {Ahmet Okay} and Murat Gunel and Gleeson, {Joseph G} and Gaia Novarino",
note = "Copyright {\^A}{\textcopyright} 2016 Elsevier Inc. All rights reserved.",
year = "2016",
month = dec,
day = "1",
doi = "10.1016/j.cell.2016.11.013",
language = "English",
volume = "167",
pages = "1481--1494.e18",
journal = "CELL",
issn = "0092-8674",
publisher = "Cell Press",
number = "6",

}

RIS

TY - JOUR

T1 - Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

AU - Tărlungeanu, Dora C

AU - Deliu, Elena

AU - Dotter, Christoph P

AU - Kara, Majdi

AU - Janiesch, Phillipp Christoph

AU - Scalise, Mariafrancesca

AU - Galluccio, Michele

AU - Tesulov, Mateja

AU - Morelli, Emanuela

AU - Sonmez, Fatma Mujgan

AU - Bilguvar, Kaya

AU - Ohgaki, Ryuichi

AU - Kanai, Yoshikatsu

AU - Johansen, Anide

AU - Esharif, Seham

AU - Ben-Omran, Tawfeg

AU - Topcu, Meral

AU - Schlessinger, Avner

AU - Indiveri, Cesare

AU - Duncan, Kent E

AU - Caglayan, Ahmet Okay

AU - Gunel, Murat

AU - Gleeson, Joseph G

AU - Novarino, Gaia

N1 - Copyright © 2016 Elsevier Inc. All rights reserved.

PY - 2016/12/1

Y1 - 2016/12/1

N2 - Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities. Furthermore, we identified several patients with autistic traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate a neurological syndrome defined by SLC7A5 mutations and support an essential role for the BCAA in human brain function.

AB - Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities. Furthermore, we identified several patients with autistic traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate a neurological syndrome defined by SLC7A5 mutations and support an essential role for the BCAA in human brain function.

U2 - 10.1016/j.cell.2016.11.013

DO - 10.1016/j.cell.2016.11.013

M3 - SCORING: Journal article

C2 - 27912058

VL - 167

SP - 1481-1494.e18

JO - CELL

JF - CELL

SN - 0092-8674

IS - 6

ER -