Search Results | Scholarly Articles, Journals, and E-Books

Results: 15

Functional and mechanistic roles of the human proton-coupled folate transporter transmembrane domain 6-7 linker.
Published in:
Biochemical Journal, 2016, v. 473, n. 20, p. 3545, doi. 10.1042/BCJ20160399
By:
- Wilson, Mike R.;
- Zhanjun Hou;
- Wilson, Lucas J.;
- Jun Ye;
- Matherly, Larry H.
Publication type:
Article
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 7, p. 381, doi. 10.1038/jhg.2015.35
By:
- Kohrogi, Kensaku;
- Imagawa, Eri;
- Muto, Yuichiro;
- Hirai, Katsuki;
- Migita, Masahiro;
- Mitsubuchi, Hiroshi;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Nakamura, Kimitoshi;
- Endo, Fumio
Publication type:
Article
Fast and robust detection of ancestral selective sweeps.
Published in:
Molecular Ecology, 2017, v. 26, n. 24, p. 6871, doi. 10.1111/mec.14416
By:
- Cheng, Xiaoheng;
- Xu, Cheng;
- DeGiorgio, Michael
Publication type:
Article
Association of TM4SF4 with the Human Thiamine Transporter-2 in Intestinal Epithelial Cells.
Published in:
Digestive Diseases & Sciences, 2014, v. 59, n. 3, p. 583, doi. 10.1007/s10620-013-2952-y
By:
- Subramanian, Veedamali;
- Nabokina, Svetlana;
- Said, Hamid
Publication type:
Article
Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes.
Published in:
2016
By:
- Porta, Massimo;
- Toppila, Iiro;
- Sandholm, Niina;
- Hosseini, S. Mohsen;
- Forsblom, Carol;
- Hietala, Kustaa;
- Borio, Lorenzo;
- Harjutsalo, Valma;
- Klein, Barbara E.;
- Klein, Ronald;
- Paterson, Andrew D.;
- Groop, Per-Henrik;
- DCCT/EDIC Research Group;
- FinnDiane Study Group
Publication type:
journal article
Thiamine versus placebo in older heart failure patients: study protocol for a randomized controlled crossover feasibility trial (THIAMINE-HF).
Published in:
Pilot & Feasibility Studies, 2018, v. 4, n. 1, p. N.PAG, doi. 10.1186/s40814-018-0342-0
By:
- Wong, Eric Kai Chung;
- Lee, Justin Yusen;
- Leong, Darryl P.;
- Mbuagbaw, Lawrence;
- Yousuf, Haroon;
- Keen, Sabina;
- Straus, Sharon E.;
- Patterson, Christopher J.;
- Demers, Catherine
Publication type:
Article
Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 <i>(SLC19A3)</i> Gene Associated with Alaskan Husky Encephalopathy.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057195
By:
- Vernau, Karen M.;
- Runstadler, Jonathan A.;
- Brown, Emily A.;
- Cameron, Jessie M.;
- Huson, Heather J.;
- Higgins, Robert J.;
- Ackerley, Cameron;
- Sturges, Beverly K.;
- Dickinson, Peter J.;
- Puschner, Birgit;
- Giulivi, Cecilia;
- Shelton, G. Diane;
- Robinson, Brian H.;
- DiMauro, Salvatore;
- Bollen, Andrew W.;
- Bannasch, Danika L.
Publication type:
Article
Glucose-Induced Down Regulation of Thiamine Transporters in the Kidney Proximal Tubular Epithelium Produces Thiamine Insufficiency in Diabetes.
Published in:
PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0053175
By:
- Larkin, James R.;
- Zhang, Fang;
- Godfrey, Lisa;
- Molostvov, Guerman;
- Zehnder, Daniel;
- Rabbani, Naila;
- Thornalley, Paul J.
Publication type:
Article
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Published in:
2016
By:
- Ortigoza-Escobar, Juan Darío;
- Molero-Luis, Marta;
- Arias, Angela;
- Oyarzabal, Alfonso;
- Darín, Niklas;
- Serrano, Mercedes;
- Garcia-Cazorla, Angels;
- Tondo, Mireia;
- Hernández, María;
- Garcia-Villoria, Judit;
- Casado, Mercedes;
- Gort, Laura;
- Mayr, Johannes A.;
- Rodríguez-Pombo, Pilar;
- Ribes, Antonia;
- Artuch, Rafael;
- Pérez-Dueñas, Belén
Publication type:
journal article
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. e295, doi. 10.1093/brain/awu128
By:
- Haack, Tobias B.;
- Klee, Dirk;
- Strom, Tim M.;
- Mayatepek, Ertan;
- Meitinger, Thomas;
- Prokisch, Holger;
- Distelmaier, Felix
Publication type:
Article
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. e297, doi. 10.1093/brain/awu130
By:
- van der Knaap, Marjo S.;
- Kevelam, Sietske H.
Publication type:
Article
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. e296, doi. 10.1093/brain/awu129
By:
- Gerards, Mike;
- de Coo, René;
- Smeets, Hubert
Publication type:
Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054
By:
- Kevelam, Sietske H.;
- Bugiani, Marianna;
- Salomons, Gajja S.;
- Feigenbaum, Annette;
- Blaser, Susan;
- Prasad, Chitra;
- Häberle, Johannes;
- Barić, Ivo;
- Bakker, Ingrid M. C.;
- Postma, Nienke L.;
- Kanhai, Warsha A.;
- Wolf, Nicole I.;
- Abbink, Truus E. M.;
- Waisfisz, Quinten;
- Heutink, Peter;
- van der Knaap, Marjo S.
Publication type:
Article
Oxidative Stress Upregulates the Transcription of Genes Involved in Thiamine Metabolism.
Published in:
Turkish Journal of Biology, 2018, v. 42, n. 5, p. 447, doi. 10.3906/biy-1801-51
By:
- KARTAL, Burcu;
- AKÇAY, Ahmet;
- PALABIYIK, Bedia
Publication type:
Article
The Evolution and Treatment of Korsakoff's Syndrome.
Published in:
Neuropsychology Review, 2012, v. 22, n. 2, p. 81, doi. 10.1007/s11065-012-9196-z
By:
- Thomson, A.;
- Guerrini, Irene;
- Marshall, E.
Publication type:
Article