Literature DB >> 21750573

Normal glycosylation screening does not rule out SRD5A3-CDG.

Miski Mohamed, Vincent Cantagrel, Lihadh Al-Gazali, Ron A Wevers, Dirk J Lefeber, Eva Morava.   

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Year:  2011        PMID： 21750573      PMCID： PMC3190245          DOI： 10.1038/ejhg.2010.260

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


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  7 in total

1.  Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

Authors:  Kimia Kahrizi; Cougar Hao Hu; Masoud Garshasbi; Seyedeh Sedigheh Abedini; Shirin Ghadami; Roxana Kariminejad; Reinhard Ullmann; Wei Chen; H-Hilger Ropers; Andreas W Kuss; Hossein Najmabadi; Andreas Tzschach
Journal:  Eur J Hum Genet       Date:  2010-08-11       Impact factor: 4.246

2.  A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Authors:  Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies H Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin Huijben; Connie M A van Ravenswaaij-Arts; Marjolein C J Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michel A Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
Journal:  Brain       Date:  2010-09-17       Impact factor: 13.501

3.  SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors:  Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; Bassam R Ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  Cell       Date:  2010-07-15       Impact factor: 41.582

4.  A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

Authors:  L Al-Gazali; J Hertecant; K Algawi; H El Teraifi; M Dattani
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

Review 5.  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

6.  Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.

Authors:  Daniel Hess; Jeremy J Keusch; Saskia A Lesnik Oberstein; Raoul C M Hennekam; Jan Hofsteenge
Journal:  J Biol Chem       Date:  2008-01-16       Impact factor: 5.157

7.  Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Authors:  S Vermeer; H P H Kremer; Q H Leijten; H Scheffer; G Matthijs; R A Wevers; N A V M Knoers; E Morava; D J Lefeber
Journal:  J Neurol       Date:  2007-08-15       Impact factor: 4.849
  7 in total
  6 in total

Review 1.  What is new in CDG?

Authors:  Jaak Jaeken; Romain Péanne
Journal:  J Inherit Metab Dis       Date:  2017-05-08       Impact factor: 4.982

2.  Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.

Authors:  Rong Wen; Byron L Lam; Ziqiang Guan
Journal:  J Lipid Res       Date:  2013-09-27       Impact factor: 5.922

Review 3.  Congenital disorders of glycosylation: new defects and still counting.

Authors:  Kyle Scott; Therese Gadomski; Tamas Kozicz; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2014-05-15       Impact factor: 4.982

4.  Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini.

Authors:  M Binkhorst; S B Wortmann; S Funke; T Kozicz; R A Wevers; E Morava
Journal:  J Inherit Metab Dis       Date:  2011-12-02       Impact factor: 4.982

5.  SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.

Authors:  Nazreen Kamarus Jaman; Preeya Rehsi; Robert H Henderson; Ulrike Löbel; Kshitij Mankad; Stephanie Grunewald
Journal:  Front Genet       Date:  2021-12-01       Impact factor: 4.599

6.  Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Authors:  Bülent Kara; Özgecan Ayhan; Gülden Gökçay; Nurdan Başboğaoğlu; Aslıhan Tolun
Journal:  BMC Med Genet       Date:  2014-01-16       Impact factor: 2.103
  6 in total

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