Literature DB >> 22411858

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

Stefania Zampatti1, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak, Francesco Brancati.   

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Year:  2012        PMID： 22411858     DOI： 10.1002/ajmg.a.35231

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Authors:  Kishin Koh; Hiroyuki Ishiura; Minako Beppu; Haruo Shimazaki; Yuta Ichinose; Jun Mitsui; Satoshi Kuwabara; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2018-06-18       Impact factor: 3.172

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

Authors:  Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne-Laporte; Feifei Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphaël Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice-Picard; Christelle M Durand; Christel Depienne; Patrick Calvas; Paula Coutinho; Jean-Marie Saudubray; Guy Rouleau; Alexis Brice; Garth Nicholson; Frédéric Darios; José L Loureiro; Stephan Zuchner; Chris Ottolenghi; Fanny Mochel; Giovanni Stevanin
Journal:  Brain       Date:  2015-05-29       Impact factor: 13.501

Review 3.  Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Authors:  Aude Beyens; Lore Pottie; Patrick Sips; Bert Callewaert
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

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

Authors:  Björn Fischer-Zirnsak; Nathalie Escande-Beillard; Jaya Ganesh; Yu Xuan Tan; Mohammed Al Bughaili; Angela E Lin; Inderneel Sahai; Paulina Bahena; Sara L Reichert; Abigail Loh; Graham D Wright; Jaron Liu; Elisa Rahikkala; Eniko K Pivnick; Asim F Choudhri; Ulrike Krüger; Tomasz Zemojtel; Conny van Ravenswaaij-Arts; Roya Mostafavi; Irene Stolte-Dijkstra; Sofie Symoens; Leila Pajunen; Lihadh Al-Gazali; David Meierhofer; Peter N Robinson; Stefan Mundlos; Camilo E Villarroel; Peter Byers; Amira Masri; Stephen P Robertson; Ulrike Schwarze; Bert Callewaert; Bruno Reversade; Uwe Kornak
Journal:  Am J Hum Genet       Date:  2015-08-27       Impact factor: 11.025

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

Authors:  Thatjana Gardeitchik; Miski Mohamed; Björn Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki-Joong Kim; Bing C Lim; Johannes Häberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leão; Riikka Keski-Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; Uwe Kornak; Eva Morava
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246

6.  Genetic analysis of Pycr1 and Pycr2 in mice.

Authors:  Morgane G Stum; Abigail L D Tadenev; Kevin L Seburn; Kathy E Miers; Pak P Poon; Christopher R McMaster; Carolyn Robinson; Coleen Kane; Kathleen A Silva; Paul F Cliften; John P Sundberg; Laura G Reinholdt; Simon W M John; Robert W Burgess
Journal:  Genetics       Date:  2021-05-17       Impact factor: 4.562

7.  PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child.

Authors:  Preeti Srivastava; Asit Kumar Mishra; Nilanjan Sarkar
Journal:  Cureus       Date:  2021-04-24

Review 8.  Amino acid synthesis deficiencies.

Authors:  T J de Koning
Journal:  J Inherit Metab Dis       Date:  2017-06-26       Impact factor: 4.982

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

Authors:  Maha S Zaki; Gifty Bhat; Tipu Sultan; Mahmoud Issa; Hea-Jin Jung; Esra Dikoglu; Laila Selim; Imam G Mahmoud; Mohamed S Abdel-Hamid; Ghada Abdel-Salam; Isaac Marin-Valencia; Joseph G Gleeson
Journal:  Ann Neurol       Date:  2016-06-01       Impact factor: 10.422

10.  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.

Authors:  Mark T Handley; André Mégarbané; Alison M Meynert; Stephen Brown; Elisabeth Freyer; Martin S Taylor; Ian J Jackson; Irene A Aligianis
Journal:  Mol Genet Genomic Med       Date:  2014-03-11       Impact factor: 2.183
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