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Items: 18

1.

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG.

Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1.

PMID:
27130255
2.

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. Epub 2015 Aug 27.

3.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G.

Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.

4.

Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.

Peng Y, Cooper SK, Li Y, Mei JM, Qiu S, Borchert GL, Donald SP, Kung HF, Phang JM.

Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2486-97. doi: 10.1167/iovs.15-16509.

5.

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

Mori M, Mytinger JR, Martin LC, Bartholomew D, Hickey S.

JIMD Rep. 2014;17:47-51. doi: 10.1007/8904_2014_332. Epub 2014 Sep 21.

6.

Proline biosynthesis is required for endoplasmic reticulum stress tolerance in Saccharomyces cerevisiae.

Liang X, Dickman MB, Becker DF.

J Biol Chem. 2014 Oct 3;289(40):27794-806. doi: 10.1074/jbc.M114.562827. Epub 2014 Aug 11.

7.

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.

Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA.

Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11.

8.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E.

Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21.

9.

Bridging epigenetics and metabolism: role of non-essential amino acids.

Phang JM, Liu W, Hancock C.

Epigenetics. 2013 Mar;8(3):231-6. doi: 10.4161/epi.24042. Epub 2013 Feb 19.

10.

Aldehyde dehydrogenases in cellular responses to oxidative/electrophilic stress.

Singh S, Brocker C, Koppaka V, Chen Y, Jackson BC, Matsumoto A, Thompson DC, Vasiliou V.

Free Radic Biol Med. 2013 Mar;56:89-101. doi: 10.1016/j.freeradbiomed.2012.11.010. Epub 2012 Nov 27. Review.

11.

Substrate channeling in proline metabolism.

Arentson BW, Sanyal N, Becker DF.

Front Biosci (Landmark Ed). 2012 Jan 1;17:375-88. Review.

12.

Metabolic cutis laxa syndromes.

Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E.

J Inherit Metab Dis. 2011 Aug;34(4):907-16. doi: 10.1007/s10545-011-9305-9. Epub 2011 Mar 23. Review.

13.

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.

14.

Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature.

Black WJ, Stagos D, Marchitti SA, Nebert DW, Tipton KF, Bairoch A, Vasiliou V.

Pharmacogenet Genomics. 2009 Nov;19(11):893-902. doi: 10.1097/FPC.0b013e3283329023.

15.

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME.

Am J Hum Genet. 2009 Jul;85(1):120-9. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2.

16.

Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.

Marchitti SA, Brocker C, Stagos D, Vasiliou V.

Expert Opin Drug Metab Toxicol. 2008 Jun;4(6):697-720. doi: 10.1517/17425255.4.6.697 . Review.

17.

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.

Hu CA, Bart Williams D, Zhaorigetu S, Khalil S, Wan G, Valle D.

Amino Acids. 2008 Nov;35(4):655-64. doi: 10.1007/s00726-008-0107-9. Epub 2008 May 28.

18.

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. Epub 2008 Apr 10.

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