| 1 | 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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| 2 | ALDH18A1, SPG9
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| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
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| Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Brescia Morra V, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M.
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| Brain rain. 2015 Aug 21. pii: awv247. [Epub ahead of print] No abstract available.
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
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| Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.
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| Hu CA, Khalil S, Zhaorigetu S, Liu Z, Tyler M, Wan G, Valle D.
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| Amino Acids 35(4):665-72. doi: 10.1007/s00726-008-0075-0. Epub 2008 Apr 10.
2008
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| 8 | 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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| 9 | AGAP10, AGAP6, AGAP7, AGAP8, AKR1CL1, ALDH18A1, ANXA8L1, BTBD16, C10orf103, C10orf108, C10orf111, C10orf113, C10orf114, C10orf115, C10orf120, C10orf122, C10orf25, C10orf26, C10orf30, C10orf32, C10orf35, C10orf47, C10orf55, C10orf67, C10orf71, CACUL1, CALHM1, CH25H, EBF3, FAM22D, FAM23A, FAM23B, FAM24A, FAM25A, FAM25B, FAM25C, FAM25D, FAM25E, FAM25G, FAM25HP, FZD8, GPAM, HECTD2, HOGA1, PDE6C, SYNPO2L, TET1, UTF1, VAX1, XPNPEP1, YME1L1, ZCCHC24, ZNF511
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| The DNA sequence and comparative analysis of human chromosome 10.
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| Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J.
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| Nature 429(6990):375-81. 2004
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| 10 | ALDH18A1
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| 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.
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| Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D.
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| Hum Mol Genet 9(19):2853-8. 2000
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| 11 | ALDH18A1
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| Cloning, characterization and expression of cDNAs encoding human D-pyrroline-5-carboxylate synthase. (abstr)
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| Hu CA, et al.
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| Am J Hum Genet 61 : A174. 1997
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| 12 | ALDH18A1
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| Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization.
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| Liu G, et al.
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| Genomics 37 : 145-146. 1996
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| 13 | ALDH18A1
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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. Clonage sur base de donnes de l'ADNc de la delta 1-pyrroline-5-carboxylase synthtase (P5CS) humaine : une enzyme bifonctionnelle catalysant les 2 premires tapes de la biosynthse de la proline.
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| Aral B, et al.
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| C R Acad Sci III 319 : 171-178. 1996
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| 14 | 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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| 15 | ALDH18A1
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| Synteny between the Pro+ marker and human glutamate oxaloacetate transaminase.
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| Jones C.
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| Somatic Cell Genet 1 : 345-354. 1975
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