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Items: 1 to 20 of 501

1.

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D.

Hum Mol Genet. 2000 Nov 22;9(19):2853-8.

PMID:
11092761
2.

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.

Eur J Pediatr. 2005 Jan;164(1):31-6.

PMID:
15517380
3.

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.

Martinelli D, Häberle J, Rubio V, Giunta C, Hausser I, Carrozzo R, Gougeard N, Marco-Marín C, Goffredo BM, Meschini MC, Bevivino E, Boenzi S, Colafati GS, Brancati F, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis. 2012 Sep;35(5):761-76. doi: 10.1007/s10545-011-9411-8.

PMID:
22170564
5.

Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.

Hu CA, Khalil S, Zhaorigetu S, Liu Z, Tyler M, Wan G, Valle D.

Amino Acids. 2008 Nov;35(4):665-72. doi: 10.1007/s00726-008-0075-0.

6.

The evolution of pyrroline-5-carboxylate synthase in plants: a key enzyme in proline synthesis.

Turchetto-Zolet AC, Margis-Pinheiro M, Margis R.

Mol Genet Genomics. 2009 Jan;281(1):87-97. doi: 10.1007/s00438-008-0396-4.

PMID:
19002717
7.

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT.

J Inherit Metab Dis. 2005;28(5):673-9.

PMID:
16151897
8.

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP.

Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91.

9.

Differential expression of two P5CS genes controlling proline accumulation during salt-stress requires ABA and is regulated by ABA1, ABI1 and AXR2 in Arabidopsis.

Strizhov N, Abrahám E, Okrész L, Blickling S, Zilberstein A, Schell J, Koncz C, Szabados L.

Plant J. 1997 Sep;12(3):557-69.

10.

Regulation of proline biosynthesis: the inhibition of pyrroline-5-carboxylate synthase activity by ornithine.

Lodato RF, Smith RJ, Valle D, Phang JM, Aoki TT.

Metabolism. 1981 Sep;30(9):908-13.

PMID:
6115302
11.
12.
15.

A cortisol surge mediates the enhanced expression of pig intestinal pyrroline-5-carboxylate synthase during weaning.

Wu G, Meininger CJ, Kelly K, Watford M, Morris SM Jr.

J Nutr. 2000 Aug;130(8):1914-9.

16.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001.

17.

Synthesis of citrulline from glutamine in pig enterocytes.

Wu G, Knabe DA, Flynn NE.

Biochem J. 1994 Apr 1;299 ( Pt 1):115-21.

18.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK.

J Neurol Sci. 2008 Jan 15;264(1-2):187-94.

PMID:
17825324
20.

Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease.

Pérez-Arellano I, Carmona-Alvarez F, Martínez AI, Rodríguez-Díaz J, Cervera J.

Protein Sci. 2010 Mar;19(3):372-82. doi: 10.1002/pro.340. Review.

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