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1950 1
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115 results

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Page 1
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
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. Tărlungeanu DC, et al. Among authors: schlessinger a. Cell. 2016 Dec 1;167(6):1481-1494.e18. doi: 10.1016/j.cell.2016.11.013. Cell. 2016. PMID: 27912058 Free PMC article.
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML, McInnes G, Brown JEH, Thomas N, Hutchinson K, Chin MY, Koehl A, Arkin MR, Schlessinger A, Gallagher RC, Song YS, Altman RB, Giacomini KM. Koleske ML, et al. Among authors: schlessinger a. Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2210247119. doi: 10.1073/pnas.2210247119. Epub 2022 Nov 7. Proc Natl Acad Sci U S A. 2022. PMID: 36343260 Free PMC article.
Protein structure-based gene expression signatures.
Rahman R, Zatorski N, Hansen J, Xiong Y, van Hasselt JGC, Sobie EA, Birtwistle MR, Azeloglu EU, Iyengar R, Schlessinger A. Rahman R, et al. Among authors: schlessinger a. Proc Natl Acad Sci U S A. 2021 May 11;118(19):e2014866118. doi: 10.1073/pnas.2014866118. Proc Natl Acad Sci U S A. 2021. PMID: 33941686 Free PMC article.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Silva DB, et al. Among authors: schlessinger a. Am J Hum Genet. 2024 Jun 6;111(6):1222-1238. doi: 10.1016/j.ajhg.2024.04.021. Epub 2024 May 22. Am J Hum Genet. 2024. PMID: 38781976 Free PMC article.
SLC16 Family: From Atomic Structure to Human Disease.
Bosshart PD, Charles RP, Garibsingh RA, Schlessinger A, Fotiadis D. Bosshart PD, et al. Among authors: schlessinger a. Trends Biochem Sci. 2021 Jan;46(1):28-40. doi: 10.1016/j.tibs.2020.07.005. Epub 2020 Aug 19. Trends Biochem Sci. 2021. PMID: 32828650 Review.
Substrate binding and inhibition of the anion exchanger 1 transporter.
Capper MJ, Yang S, Stone AC, Vatansever S, Zilberg G, Mathiharan YK, Habib R, Hutchinson K, Zhao Y, Schlessinger A, Mezei M, Osman R, Zhang B, Wacker D. Capper MJ, et al. Among authors: schlessinger a. Nat Struct Mol Biol. 2023 Oct;30(10):1495-1504. doi: 10.1038/s41594-023-01085-6. Epub 2023 Sep 7. Nat Struct Mol Biol. 2023. PMID: 37679563 Free PMC article.
115 results