About: Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)

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rdf:type	Item
description	artículu científicu espublizáu en 2012 (ast) vědecký článek publikovaný v roce 2012 (cs) 2012 թվականի ապրիլին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована у квітні 2012 (uk) 2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած (hyw) مقالة علمية (نشرت في أبريل 2012) (ar) vedecký článok (publikovaný 2012/04/01) (sk) wetenschappelijk artikel (gepubliceerd op 2012/04/01) (nl) scientific journal article (en) im April 2012 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28117946-53C4AB36-85E4-4864-B94F-35F12F759230
publication date	2012-04-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q28117946-0D0663DC-913E-4474-8CE1-D16804CC6368 wds:Q28117946-0EEC39C0-2377-4204-AC68-87C61AF2B25D wds:Q28117946-198FE858-ACB0-48F5-B536-34B55C159E03 wds:Q28117946-1BBD924F-C074-4415-AAA9-08ABB3C2E5E8 wds:Q28117946-2A84A08A-F47F-4E28-9BD7-76D2CD171EE9 wds:Q28117946-34D63292-01E4-4825-BE48-69D6F8FFC138 wds:Q28117946-3F123D7B-32A6-4674-A148-7F92981150D2 wds:Q28117946-4D88A72D-369F-476A-A3CB-8F32F49EA7F0 wds:Q28117946-4F36BB5D-82D1-41E7-A1D1-FF9A369A9521 wds:Q28117946-6949B3D3-65FE-426D-ACC6-77404F536F6E wds:Q28117946-6C77E2A0-B11F-49EA-85B3-8A75ECA8DA30 wds:Q28117946-7321D04D-2197-4B78-B441-C134E069C856 wds:Q28117946-74B9DF9E-66D9-4D6E-94BB-FF687498EB74 wds:Q28117946-87D3F094-5BA4-415F-B115-513ED178D04B wds:Q28117946-8CDE804F-24D0-4B05-9B18-8E9DB778688C wds:Q28117946-8E9B5222-C3F7-4FE4-A7EC-CE521E72F5BB wds:Q28117946-C23DBE13-290C-4815-9250-5954E701FA01 wds:Q28117946-C8A02398-54C5-4C47-9BC8-E756E7BDB681 wds:Q28117946-E83C6559-C418-4E08-9DDB-5C626376CED6 wds:Q28117946-EACC3BD6-486C-454E-8D73-13B8E64AD30E
cites work	Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment Mechanism of riboflavine uptake by Caco-2 human intestinal epithelial cells Molecular mechanisms involved in the adaptive regulation of human intestinal biotin uptake: A study of the hSMVT system Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Riboflavin (vitamin B-2) and health Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and 2 promoters Recent advances in carrier-mediated intestinal absorption of water-soluble vitamins Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption. Exome sequencing in Brown-Vialetto-van Laere syndrome Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells. Brown-Vialetto-Van Laere syndrome Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease Differential expression of human riboflavin transporters -1, -2, and -3 in polarized epithelia: a key role for hRFT-2 in intestinal riboflavin uptake. Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposure Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines
author name string	wds:Q28117946-907B8360-4209-44A4-8AB2-F00477E7220B wds:Q28117946-A5032F6E-F766-4D11-A2A8-D2ADAD058997 wds:Q28117946-C7772218-B8C4-429D-8096-78C3023E4928
author name string	Hamid M. Said Svetlana M. Nabokina Veedamali S. Subramanian
rdfs:label	Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (en) Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (nl) Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (ast)
skos:prefLabel	Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (en) Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (nl) Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (ast)
name	Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (en) Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (nl) Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (ast)
title	wds:Q28117946-311F4AAA-9B35-48EE-A86F-6144F99B4E80
title	Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2) (en)
page(s)	wds:Q28117946-834F4FC7-D92B-4CC3-BC6E-C184C4244070
page(s)	652–657
instance of	wds:Q28117946-F76C3746-03CE-4812-BF35-6E95012C8132
instance of	scholarly article
main subject	wds:Q28117946-61ACD125-01AD-4AA8-B4F3-E144C7149942 wds:Q28117946-8C52A94E-8CD3-49D5-A925-523E03479DF4 wds:Q28117946-99B555BA-0282-4850-8664-C3D5415F1F57
main subject	wd:Q130365 Solute carrier family 52 member 3 riboflavin transport
PubMed ID	wds:Q28117946-F101C873-6D0D-4CFF-AE19-7F9CE7207CF9
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22273710
PubMed ID	22273710
published in	wds:Q28117946-2CA0010C-8B84-4340-8496-AD613BB964BF
published in	Molecular Genetics and Metabolism
issue	wds:Q28117946-A8625458-5269-42DB-8536-206D34CDF527
volume	wds:Q28117946-D9446C78-99F1-4235-9D2B-978060F5B07B
issue	4
volume	105
DOI	wds:Q28117946-97025EFA-FB6D-4896-AED4-680BD2F35B81
DOI	http://dx.doi.org/10.1016/J.YMGME.2011.12.021
DOI	10.1016/J.YMGME.2011.12.021
ResearchGate publication ID	wds:Q28117946-66F70670-8EB2-48C9-B108-98C316756A72
ResearchGate publication ID	221773990
PMCID	wds:Q28117946-1DEC90F9-B4CF-49B6-9759-24F0FE127553
PMCID	3309148
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28117946
is cites work of	SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine Identification and functional characterization of the Caenorhabditis elegans riboflavin transporters rft-1 and rft-2

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