Literature DB >> 17475666

Lysinuric protein intolerance: one gene, many problems.

Stefan Bröer1.   

Abstract

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Year:  2007        PMID: 17475666     DOI: 10.1152/ajpcell.00166.2007

Source DB:  PubMed          Journal:  Am J Physiol Cell Physiol        ISSN: 0363-6143            Impact factor:   4.249


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  7 in total

1.  Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells.

Authors:  Daniela Verzola; Annamaria Famà; Barbara Villaggio; Maia Di Rocco; Alchiede Simonato; Elena D'Amato; Fabio Gianiorio; Giacomo Garibotto
Journal:  J Inherit Metab Dis       Date:  2012-03-09       Impact factor: 4.982

2.  Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance.

Authors:  Harri Niinikoski; Risto Lapatto; Matti Nuutinen; Laura Tanner; Olli Simell; Kirsti Näntö-Salonen
Journal:  JIMD Rep       Date:  2011-06-22

3.  Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Authors:  Maines Evelina; Morandi Grazia; Olivieri Francesca; Camilot Marta; Cavarzere Paolo; Gaudino Rossella; Antoniazzi Franco; Bordugo Andrea
Journal:  JIMD Rep       Date:  2015-01-23

4.  Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Authors:  Mariona Font-Llitjós; Benjamín Rodríguez-Santiago; Meritxell Espino; Ruth Sillué; Sandra Mañas; Laia Gómez; Luis A Pérez-Jurado; Manuel Palacín; Virginia Nunes
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

5.  Fanconi syndrome with lysinuric protein intolerance.

Authors:  Eleonora Riccio; Antonio Pisani
Journal:  Clin Kidney J       Date:  2014-10-20

6.  SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance.

Authors:  David N Douda; Nicole Farmakovski; Sharon Dell; Hartmut Grasemann; Nades Palaniyar
Journal:  Orphanet J Rare Dis       Date:  2009-12-23       Impact factor: 4.123

7.  Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.

Authors:  Bianca Maria Rotoli; Amelia Barilli; Rossana Visigalli; Filippo Ingoglia; Marco Milioli; Maria Di Lascia; Benedetta Riccardi; Paola Puccini; Valeria Dall'Asta
Journal:  Front Immunol       Date:  2018-03-19       Impact factor: 7.561

  7 in total

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