Works matching DE "THIAMINE transporter proteins"

Results: 15

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

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

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

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

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

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

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

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

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

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