homocystinuria/proline

Krækjan er vistuð á klemmuspjaldið

GreinarKlínískar rannsóknirEinkaleyfi

Veldu tegund tegund

4 niðurstöður

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in exon 3, causing an arginine-to-glutamic acid substitution at position 125 of the protein (R125Q). This mutation has

Betaine analogues alter homocysteine metabolism in rats.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

Glycine betaine supplementation lowers homocysteine levels in homocystinuria and in chronic renal failure patients through methylation catalysed by betaine-homocysteine methyltransferase (BHMT). The aim of this study was to determine the effect of glycine betaine analogues on homocysteine metabolism

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

5-Methyltetrahydrofolate, the major form of folate in plasma, is a carbon donor for the remethylation of homocysteine to methionine. This form of folate is generated from 5,10-methylenetetrahydrofolate through the action of 5,10-methylenetetrahydrofolate reductase (MTHFR), a cytosolic flavoprotein.

Chemical chaperone rescue of mutant human cystathionine beta-synthase.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism. Expression of human mutant CBS proteins in Saccharomyces cerevisiae reveals that most disease causing mutations severely

Skráðu þig á
facebook síðu okkar

Herbal & Natural Medicine

Heillasta gagnagrunnur lækningajurtanna sem studdur er af vísindum

Virkar á 55 tungumálum
Jurtalækningar studdir af vísindum
Jurtaviðurkenning eftir ímynd
Gagnvirkt GPS kort - merktu jurtir á staðsetningu (kemur fljótlega)
Lestu vísindarit sem tengjast leit þinni
Leitaðu að lækningajurtum eftir áhrifum þeirra
Skipuleggðu áhugamál þitt og vertu vakandi með fréttarannsóknum, klínískum rannsóknum og einkaleyfum

Sláðu inn einkenni eða sjúkdóm og lestu um jurtir sem gætu hjálpað, sláðu jurt og sjáðu sjúkdóma og einkenni sem hún er notuð við.
* Allar upplýsingar eru byggðar á birtum vísindarannsóknum