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Select item 105061581.

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data

Carlos R. Ferreira, Matthew T. Whitehead, Eyby Leon

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 18.

Published in final edited form as: Am J Med Genet A. 2017 Jun; 173(6): 1502–1513. Published online 2017 Apr 12. doi: 10.1002/ajmg.a.38189

PMCID:: PMC10506158

Abstract Article PDF–331K

Select item 100395112.

Study of FOXO1-interacting proteins using TurboID-based proximity labeling technology

Yanting Su, Yuanyuan Guo, Jieyu Guo, Ting Zeng, Ting Wang, Wu Liu

BMC Genomics. 2023; 24: 146. Published online 2023 Mar 24. doi: 10.1186/s12864-023-09238-z

PMCID:: PMC10039511

Abstract Article PDF–2.0M

Select item 97190283.

Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an H⁺-driven lysosomal pyridoxine exporter

Shogo Akino, Tomoya Yasujima, Takahiro Yamashiro, Hiroaki Yuasa

Life Sci Alliance. 2023 Feb; 6(2): e202201629. Published online 2022 Dec 1. doi: 10.26508/lsa.202201629

PMCID:: PMC9719028

Abstract Article PDF–1.5M

Select item 92937824.

Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3

Kohei Miyake, Tomoya Yasujima, Syunsuke Takahashi, Takahiro Yamashiro, Hiroaki Yuasa

J Biol Chem. 2022 Aug; 298(8): 102161. Published online 2022 Jun 17. doi: 10.1016/j.jbc.2022.102161

PMCID:: PMC9293782

Abstract Article PDF–2.1M

Select item 84943245.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi

PLoS One. 2021; 16(10): e0258202. Published online 2021 Oct 6. doi: 10.1371/journal.pone.0258202

PMCID:: PMC8494324

Abstract Article PDF–862K

Select item 81650306.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 80291777.

Stress‐Induced Upregulation of SLC19A3 is Impaired in Biotin‐Thiamine‐Responsive Basal Ganglia Disease

Anne Schänzer, Barbara Döring, Michelle Ondrouschek, Sarah Goos, Boyan K. Garvalov, Joachim Geyer, Till Acker, Bernd Neubauer, Andreas Hahn

Brain Pathol. 2014 Apr; 24(3): 270–279. Published online 2014 Jan 29. doi: 10.1111/bpa.12117

PMCID:: PMC8029177

Abstract Article PDF–1.2M

Select item 78638928.

pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates

Takahiro Yamashiro, Tomoya Yasujima, Hamid M. Said, Hiroaki Yuasa

J Biol Chem. 2020 Dec 11; 295(50): 16998–17008. Published online 2020 Oct 2. doi: 10.1074/jbc.RA120.013610

PMCID:: PMC7863892

Abstract Article PDF–1.8M

Select item 71699839.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 570131110.

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

Whitney Whitford, Isobel Hawkins, Emma Glamuzina, Francessa Wilson, Andrew Marshall, Fern Ashton, Donald R. Love, Juliet Taylor, Rosamund Hill, Klaus Lehnert, Russell G. Snell, Jessie C. Jacobsen

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a001909. doi: 10.1101/mcs.a001909

PMCID:: PMC5701311

Abstract Article PDF–5.8M

Select item 553161111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 509700212.

Role of HIF-1α in the Hypoxia Inducible Expression of the Thiamine Transporter, SLC19A3

Kristy Zera, Rebecca Sweet, Jason Zastre

Gene. Author manuscript; available in PMC 2017 Dec 31.

Published in final edited form as: Gene. 2016 Dec 31; 595(2): 212–220. Published online 2016 Oct 12. doi: 10.1016/j.gene.2016.10.013

PMCID:: PMC5097002

Abstract Article PDF–1.7M

Select item 505903713.

A case report of biotin–thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Mohammad F. Aljabri, Naglaa M. Kamal, Moinuddin Arif, Asrar M. AlQaedi, Enas Y.M. Santali

Medicine (Baltimore) 2016 Oct; 95(40): e4819. Published online 2016 Oct 7. doi: 10.1097/MD.0000000000004819

PMCID:: PMC5059037

Abstract Article PDF–255K

Select item 480666414.

Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes

Massimo Porta, Iiro Toppila, Niina Sandholm, S. Mohsen Hosseini, Carol Forsblom, Kustaa Hietala, Lorenzo Borio, Valma Harjutsalo, Barbara E. Klein, Ronald Klein, Andrew D. Paterson, for the DCCT/EDIC Research Group, Per-Henrik Groop

Diabetes. 2016 Apr; 65(4): 1022–1030. Published online 2015 Dec 30. doi: 10.2337/db15-1247

PMCID:: PMC4806664

Abstract Article PDF–768K

Select item 480099115.

Metformin Is a Substrate and Inhibitor of the Human Thiamine Transporter, THTR-2 (SLC19A3)

Xiaomin Liang, Huan-Chieh Chien, Sook Wah Yee, Marilyn M. Giacomini, Eugene C. Chen, Meiling Piao, Jia Hao, Jolyn Twelves, Eve-Irene Lepist, Adrian S. Ray, Kathleen M. Giacomini

Mol Pharm. Author manuscript; available in PMC 2016 Dec 7.

Published in final edited form as: Mol Pharm. 2015 Dec 7; 12(12): 4301–4310. Published online 2015 Nov 16. doi: 10.1021/acs.molpharmaceut.5b00501

PMCID:: PMC4800991

Abstract Article PDF–2.8M

Select item 474929916.

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M. Knappskog, Laurence A. Bindoff, Charalampos Tzoulis

PLoS One. 2016; 11(2): e0149055. Published online 2016 Feb 10. doi: 10.1371/journal.pone.0149055

PMCID:: PMC4749299

Abstract Article PDF–3.4M

Select item 405025017.

Differential effects of Tat proteins derived from HIV-1 subtypes B and recombinant CRF02_AG on human brain microvascular endothelial cells: implications for blood–brain barrier dysfunction

Shawna M Woollard, Biju Bhargavan, Fang Yu, Georgette D Kanmogne

J Cereb Blood Flow Metab. 2014 Jun; 34(6): 1047–1059. Published online 2014 Mar 26. doi: 10.1038/jcbfm.2014.54

PMCID:: PMC4050250

Abstract Article PDF–932K

Select item 400463418.

Evidence for genetic susceptibility to the alcohol dependence syndrome from the thiamine transporter 2 gene solute carrier SLC19A3

Giorgia Quadri, Andrew McQuillin, Irene Guerrini, Allan D. Thomson, Raquin Cherian, Jit Saini, Kush Ruparelia, Greg J. Lydall, David Ball, Iain Smith, Michael Way, Katherine Kasiakogia-Worlley, Shamir Patel, Girija Kottalgi, Priyanthi Gunawardena, Harish Rao, Audrey Hillman, Ewen Douglas, Sherzhad Y. Qureshi, Gerry Reynolds, Sameer Jauhar, Aideen O’Kane, Sally Sharp, Radhika Kandaswamy, Karim Dar, David Curtis, Marsha Y. Morgan, Hugh M.D. Gurling

Psychiatr Genet. 2014 Jun; 24(3): 122–123. Published online 2014 May 1. doi: 10.1097/YPG.0000000000000025

PMCID:: PMC4004634

Article PDF–144K

Select item 394398019.

Association of TM4SF4 with the human thiamine transporter-2 in intestinal epithelial cells

Veedamali S. Subramanian, Svetlana M. Nabokina, Hamid M. Said

Dig Dis Sci. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Dig Dis Sci. 2014 Mar; 59(3): 583–590. Published online 2013 Nov 27. doi: 10.1007/s10620-013-2952-y

PMCID:: PMC3943980

Abstract Article PDF–489K

Select item 379873120.

Adaptive regulation of human intestinal thiamine uptake by extracellular substrate level: a role for THTR-2 transcriptional regulation

Svetlana M. Nabokina, Veedamali S. Subramanian, Judith E. Valle, Hamid M. Said

Am J Physiol Gastrointest Liver Physiol. 2013 Oct 15; 305(8): G593–G599. Published online 2013 Aug 29. doi: 10.1152/ajpgi.00237.2013

PMCID:: PMC3798731

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