| 1 | P5CSD
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| Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
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| 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.
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| Am J Hum Genet 97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.
2015
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| 2 | ALDH18A1, P5CSD
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| Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
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| 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.
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| Am J Hum Genet 97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.
2015
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| 3 | ALDH18A1, P5CSD
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| Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
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| Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA.
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| Mol Genet Genomic Med 2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11.
2014
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| 4 | ALDH18A1, P5CSD
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| Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
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| Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U.
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| Mol Genet Metab 112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21.
2014
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| 5 | ALDH18A1, P5CSD
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| Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δš-pyrroline-5-carboxylate synthase (P5CS).
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| Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP.
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| Am J Med Genet A 155A(8):1848-56. doi: 10.1002/ajmg.a.34057. Epub 2011 Jul 7.
2011
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| 6 | ALDH18A1, P5CSD
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| A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
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| Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP.
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| Eur J Hum Genet 16(10):1176-86. Epub 2008 May 14. 2008
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| 7 | ALDH18A1, P5CSD
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| Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
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| Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.
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| Eur J Pediatr 164(1):31-6. Epub 2004 Oct 28. 2005
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| 8 | ALDH18A1, P5CSD
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| Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.
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| Aral B, Schlenzig JS, Liu G, Kamoun P.
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| C R Acad Sci III 319(3):171-8. 1996
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