Literature DB >> 29192153

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.

Peter Witters1,2, Jeroen Breckpot3, François Foulquier4, Graem Preston5, Jaak Jaeken6, Eva Morava6,7,5.   

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Year:  2017        PMID： 29192153      PMCID： PMC5945621          DOI： 10.1038/s41431-017-0044-8

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Authors:  S Balasubramaniam; L G Riley; D Bratkovic; D Ketteridge; N Manton; M J Cowley; V Gayevskiy; T Roscioli; M Mohamed; T Gardeitchik; E Morava; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2017-04-13       Impact factor: 4.982

2.  A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Authors:  Ellyze Van Asbeck; David F G J Wolthuis; Miski Mohamed; Ron A Wevers; Cristoph G Korenke; Thatjana Gardeitchik; Eva Morava
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

Review 3.  Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Authors:  David F G J Wolthuis; Ellyze van Asbeck; Miski Mohamed; Thatjana Gardeitchik; Elizabeth R Lim-Melia; Ron A Wevers; Eva Morava
Journal:  Eur J Paediatr Neurol       Date:  2014-02-28       Impact factor: 3.140

4.  Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Authors:  Tim Van Damme; Thatjana Gardeitchik; Miski Mohamed; Sergio Guerrero-Castillo; Peter Freisinger; Brecht Guillemyn; Ariana Kariminejad; Daisy Dalloyaux; Sanne van Kraaij; Dirk J Lefeber; Delfien Syx; Wouter Steyaert; Riet De Rycke; Alexander Hoischen; Erik-Jan Kamsteeg; Sunnie Y Wong; Monique van Scherpenzeel; Payman Jamali; Ulrich Brandt; Leo Nijtmans; G Christoph Korenke; Brian H Y Chung; Christopher C Y Mak; Ingrid Hausser; Uwe Kornak; Björn Fischer-Zirnsak; Tim M Strom; Thomas Meitinger; Yasemin Alanay; Gulen E Utine; Peter K C Leung; Siavash Ghaderi-Sohi; Paul Coucke; Sofie Symoens; Anne De Paepe; Christian Thiel; Tobias B Haack; Fransiska Malfait; Eva Morava; Bert Callewaert; Ron A Wevers
Journal:  Am J Hum Genet       Date:  2017-01-05       Impact factor: 11.025

Review 5.  Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Authors:  D Marques-da-Silva; V Dos Reis Ferreira; M Monticelli; P Janeiro; P A Videira; P Witters; J Jaeken; D Cassiman
Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

6.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

Review 7.  Autosomal recessive cutis laxa syndrome revisited.

Authors:  Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

8.  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

9.  Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Authors:  Aikaterini Dimopoulou; Björn Fischer; Thatjana Gardeitchik; Phillipe Schröter; Hülya Kayserili; Claire Schlack; Yun Li; Jaime Moritz Brum; Ingeborg Barisic; Marco Castori; Christiane Spaich; Elaine Fletcher; Zeina Mahayri; Meenakshi Bhat; Katta M Girisha; Katherine Lachlan; Diana Johnson; Shubha Phadke; Neerja Gupta; Martina Simandlova; Madhulika Kabra; Albert David; Leo Nijtmans; David Chitayat; Beyhan Tuysuz; Francesco Brancati; Stefan Mundlos; Lionel Van Maldergem; Eva Morava; Bernd Wollnik; Uwe Kornak
Journal:  Mol Genet Metab       Date:  2013-08-24       Impact factor: 4.797

10.  ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Authors:  Eric J R Jansen; Sharita Timal; Margret Ryan; Angel Ashikov; Monique van Scherpenzeel; Laurie A Graham; Hanna Mandel; Alexander Hoischen; Theodore C Iancu; Kimiyo Raymond; Gerry Steenbergen; Christian Gilissen; Karin Huijben; Nick H M van Bakel; Yusuke Maeda; Richard J Rodenburg; Maciej Adamowicz; Ellen Crushell; Hans Koenen; Darius Adams; Julia Vodopiutz; Susanne Greber-Platzer; Thomas Müller; Gregor Dueckers; Eva Morava; Jolanta Sykut-Cegielska; Gerard J M Martens; Ron A Wevers; Tim Niehues; Martijn A Huynen; Joris A Veltman; Tom H Stevens; Dirk J Lefeber
Journal:  Nat Commun       Date:  2016-05-27       Impact factor: 14.919
  10 in total
  3 in total

1.  Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Authors:  Anna Bogdańska; Patryk Lipiński; Paulina Szymańska-Rożek; Aleksandra Jezela-Stanek; Dariusz Rokicki; Piotr Socha; Anna Tylki-Szymańska
Journal:  Orphanet J Rare Dis       Date:  2021-01-06       Impact factor: 4.123

2.  Expanding the phenotype of ATP6AP1 deficiency.

Authors:  Elaine M Pereira; Vaidehi Jobanputra; Subit Barua; Sara Berger
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-06-22

3.  Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Authors:  Guido Vogt; Naji El Choubassi; Ágnes Herczegfalvi; Heike Kölbel; Anja Lekaj; Ulrike Schara; Manuel Holtgrewe; Sabine Krause; Rita Horvath; Markus Schuelke; Christoph Hübner; Stefan Mundlos; Andreas Roos; Hanns Lochmüller; Veronika Karcagi; Uwe Kornak; Björn Fischer-Zirnsak
Journal:  J Inherit Metab Dis       Date:  2021-02-04       Impact factor: 4.750
  3 in total

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