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COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption.
Nisoli E, Cinti S, Valerio A. Nisoli E, et al. Eat Weight Disord. 2021 Jun;26(5):1647-1651. doi: 10.1007/s40519-020-00963-y. Epub 2020 Jul 20. Eat Weight Disord. 2021. PMID: 32691334 Free PMC article.
Since the outbreak of COVID-19, clinicians have tried every effort to fight the disease, and multiple drugs have been proposed. However, no proven effective therapies currently exist, and different clinical phenotypes complicate the situation. ...With evidence collected fr …
Since the outbreak of COVID-19, clinicians have tried every effort to fight the disease, and multiple drugs have been proposed. Howev …
ACE2 and gut amino acid transport.
Camargo SMR, Vuille-Dit-Bille RN, Meier CF, Verrey F. Camargo SMR, et al. Clin Sci (Lond). 2020 Nov 13;134(21):2823-2833. doi: 10.1042/CS20200477. Clin Sci (Lond). 2020. PMID: 33140827 Review.
ACE2 is a type I membrane protein with extracellular carboxypeptidase activity displaying a broad tissue distribution with highest expression levels at the brush border membrane (BBM) of small intestine enterocytes and a lower expression in stomach and colon. ...The …
ACE2 is a type I membrane protein with extracellular carboxypeptidase activity displaying a broad tissue distribution with highest ex …
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Cheon CK, et al. Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Pediatr Neurol. 2010. PMID: 20399395 Review.
Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. ...A novel SLC6A19 gene mutation was associated with late-onset seizures in a Korean patient with Hartnup disorder....
Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. ...A novel SLC6A19 gene …
Further evidence for allelic heterogeneity in Hartnup disorder.
Azmanov DN, Kowalczuk S, Rodgers H, Auray-Blais C, Giguère R, Rasko JE, Bröer S, Cavanaugh JA. Azmanov DN, et al. Hum Mutat. 2008 Oct;29(10):1217-21. doi: 10.1002/humu.20777. Hum Mutat. 2008. PMID: 18484095
Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. ...This study resolves the previous hypothesis that other genes contribute to the Hartnup phenotype....
Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. ...This study resolves the pre …
Persistence of the common Hartnup disease D173N allele in populations of European origin.
Azmanov DN, Rodgers H, Auray-Blais C, Giguère R, Bailey C, Bröer S, Rasko JE, Cavanaugh JA. Azmanov DN, et al. Ann Hum Genet. 2007 Nov;71(Pt 6):755-61. doi: 10.1111/j.1469-1809.2007.00375.x. Epub 2007 Jun 7. Ann Hum Genet. 2007. PMID: 17555458
Hartnup disorder is an aminoaciduria that results from mutations in the recently described gene SLC6A19 on chromosome 5p15.33. The disease is inherited in a simple recessive manner and ten different mutations have been described to date. ...
Hartnup disorder is an aminoaciduria that results from mutations in the recently described gene SLC6A19 on chromosome 5p15.33. The …
Collectrin and ACE2 in renal and intestinal amino acid transport.
Singer D, Camargo SM. Singer D, et al. Channels (Austin). 2011 Sep-Oct;5(5):410-23. doi: 10.4161/chan.5.5.16470. Epub 2011 Sep 1. Channels (Austin). 2011. PMID: 21814048 Free article. Review.
Neutral amino acid transporters of the SLC6 family are expressed at the apical membrane of kidney and/or small intestine, where they (re-)absorb amino acids into the body. ...We will conclude with some remarks concerning the relevance of this association to Hartnup …
Neutral amino acid transporters of the SLC6 family are expressed at the apical membrane of kidney and/or small intestine, where they …
Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5.
Potter SJ, Lu A, Wilcken B, Green K, Rasko JE. Potter SJ, et al. J Inherit Metab Dis. 2002 Oct;25(6):437-48. doi: 10.1023/a:1021286714582. J Inherit Metab Dis. 2002. PMID: 12555937
Hartnup disorder is an inborn error of renal and gastrointestinal neutral amino acid transport. ...However, SLC1A5 was not linked to the Hartnup phenotype in other families. Linkage analysis also excluded an alternative candidate region at 11q13 implicated by a puta …
Hartnup disorder is an inborn error of renal and gastrointestinal neutral amino acid transport. ...However, SLC1A5 was not linked to …
Hartnup disorder: unraveling the mystery.
Kraut JA, Sachs G. Kraut JA, et al. Trends Pharmacol Sci. 2005 Feb;26(2):53-5. doi: 10.1016/j.tips.2004.12.003. Trends Pharmacol Sci. 2005. PMID: 15681018
Hartnup disorder is an autosomal recessive disease that can be associated with neurological, psychiatric and dermatological abnormalities or be asymptomatic. Excessive intestinal and urinary loss of neutral amino acids is an essential feature of this disorder, which …
Hartnup disorder is an autosomal recessive disease that can be associated with neurological, psychiatric and dermatological ab …
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
Bröer S. Bröer S. IUBMB Life. 2009 Jun;61(6):591-9. doi: 10.1002/iub.210. IUBMB Life. 2009. PMID: 19472175 Free PMC article. Review.
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. ...
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral a …
A protein complex in the brush-border membrane explains a Hartnup disorder allele.
Kowalczuk S, Bröer A, Tietze N, Vanslambrouck JM, Rasko JE, Bröer S. Kowalczuk S, et al. FASEB J. 2008 Aug;22(8):2880-7. doi: 10.1096/fj.08-107300. Epub 2008 Apr 18. FASEB J. 2008. PMID: 18424768
Neutral amino acids are generated by a variety of aminopeptidases and carboxypeptidases and are subsequently taken up by the amino acid transporter B(0)AT1 (SLC6A19), which is mutated in Hartnup disorder. Coexpression of B(0)AT1 together with the brush-border carboxypeptid …
Neutral amino acids are generated by a variety of aminopeptidases and carboxypeptidases and are subsequently taken up by the amino acid tran …
34 results