The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Identifieur interne : 000893 ( Pmc/Checkpoint ); précédent : 000892; suivant : 000894The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Auteurs : Stefan BröerSource :
- Iubmb Life [ 1521-6543 ] ; 2009.
Abstract
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo‐sensitive skin‐rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B0AT1 (SLC6A19)
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DOI: 10.1002/iub.210
PubMed: 19472175
PubMed Central: 7165679
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<front><journal-meta><journal-id journal-id-type="nlm-ta">IUBMB Life</journal-id><journal-id journal-id-type="iso-abbrev">IUBMB Life</journal-id><journal-id journal-id-type="doi">10.1002/(ISSN)1521-6551</journal-id><journal-id journal-id-type="publisher-id">IUB</journal-id><journal-title-group><journal-title>Iubmb Life</journal-title></journal-title-group><issn pub-type="ppub">1521-6543</issn><issn pub-type="epub">1521-6551</issn><publisher><publisher-name>Wiley Subscription Services, Inc., a Wiley company</publisher-name><publisher-loc>New York</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">19472175</article-id><article-id pub-id-type="pmc">7165679</article-id><article-id pub-id-type="doi">10.1002/iub.210</article-id><article-id pub-id-type="publisher-id">IUB210</article-id><article-categories><subj-group subj-group-type="overline"><subject>Critical Review</subject></subj-group><subj-group subj-group-type="heading"><subject>Critical Reviews</subject></subj-group></article-categories><title-group><article-title>The role of the neutral amino acid transporter B<sup>0</sup>AT1 (SLC6A19) in Hartnup disorder and protein nutrition</article-title><alt-title alt-title-type="right-running-head">Neutral Amino Acid Transporter B<sup>0</sup>AT1 (SLC6A19)</alt-title></title-group><contrib-group><contrib id="au1" contrib-type="author" corresp="yes"><name><surname>Bröer</surname><given-names>Stefan</given-names></name><xref ref-type="aff" rid="af1"><sup>1</sup></xref><xref ref-type="author-notes" rid="fn1"><sup>†</sup></xref><address><email>Stefan.broeer@anu.edu.au</email></address></contrib></contrib-group><aff id="af1"><label><sup>1</sup></label>School of Biology, College of Medicine, Biology and Environment, Australian National University, Canberra, Australian Capital Territory, Australia</aff><author-notes><corresp id="correspondenceTo"><label>*</label>School of Biology, College of Medicine, Biology and Environment, Australian National University</corresp><fn id="fn1"><label>†</label><p>Tel: +61‐2‐6125‐2540. Fax: +61‐2‐6125‐0313.</p></fn></author-notes><pub-date pub-type="epub"><day>26</day><month>5</month><year>2009</year></pub-date><pub-date pub-type="ppub"><month>6</month><year>2009</year></pub-date><volume>61</volume><issue>6</issue><issue-id pub-id-type="doi">10.1002/iub.v61:6</issue-id><issue-title content-type="special-issue-title">A special issue in celebration of the 21st IUBMB and 12th FAOBMB International Congress of Biochemistry and Molecular Biology to be held in Shanghai, China, August 2–7, 2009</issue-title><fpage>591</fpage><lpage>599</lpage><history><date date-type="received"><day>21</day><month>2</month><year>2009</year></date><date date-type="accepted"><day>21</day><month>3</month><year>2009</year></date></history><permissions><copyright-statement content-type="article-copyright">Copyright © 2009 Wiley Periodicals, Inc.</copyright-statement><license><license-p>This article is being made freely available through PubMed Central as part of the COVID-19 public health emergency response. It can be used for unrestricted research re-use and analysis in any form or by any means with acknowledgement of the original source, for the duration of the public health emergency.</license-p></license></permissions><self-uri content-type="pdf" xlink:href="file:IUB-61-591.pdf"></self-uri><abstract><title>Abstract</title><p>Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo‐sensitive skin‐rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B<sup>0</sup>AT1 (SLC6A19)<xref ref-type="fn" rid="note1">1</xref>. To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensin‐converting enzyme 2 for surface expression in the kidney and intestine, respectively. This ties SLC6A19 together with more complex functions such as blood‐pressure control, glomerular structure, and exocytosis. © 2009 IUBMB IUBMB Life, 61(6): 591–599, 2009</p></abstract><kwd-group kwd-group-type="author-generated"><kwd id="kwd1">angiotensin‐converting enzyme</kwd><kwd id="kwd2">epithelial cells</kwd><kwd id="kwd3">aminoaciduria</kwd></kwd-group><counts><fig-count count="5"></fig-count><table-count count="2"></table-count><ref-count count="67"></ref-count><page-count count="9"></page-count><word-count count="6411"></word-count></counts><custom-meta-group><custom-meta><meta-name>source-schema-version-number</meta-name><meta-value>2.0</meta-value></custom-meta><custom-meta><meta-name>cover-date</meta-name><meta-value>June 2009</meta-value></custom-meta><custom-meta><meta-name>details-of-publishers-convertor</meta-name><meta-value>Converter:WILEY_ML3GV2_TO_JATSPMC version:5.8.0 mode:remove_FC converted:15.04.2020</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Broer, Stefan" sort="Broer, Stefan" uniqKey="Broer S" first="Stefan" last="Bröer">Stefan Bröer</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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