Literature DB >> 26242989

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Jaak Jaeken1, Dirk Lefeber2, Gert Matthijs3.   

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Year:  2015        PMID： 26242989      PMCID： PMC4795212          DOI： 10.1038/ejhg.2015.177

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


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  18 in total

1.  Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

Authors:  Faiqa Imtiaz; Abeer Al-Mostafa; Zuhair N Al-Hassnan
Journal:  JIMD Rep       Date:  2011-09-06

Review 2.  [Molecular diagnosis of congenital disorders of glycosylation].

Authors:  S Vuillaumier-Barrot
Journal:  Ann Biol Clin (Paris)       Date:  2005 Mar-Apr       Impact factor: 0.459

3.  Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Authors:  Katsiaryna Belaya; Sarah Finlayson; Judith Cossins; Wei Wei Liu; Susan Maxwell; Jacqueline Palace; David Beeson
Journal:  Ann N Y Acad Sci       Date:  2012-12       Impact factor: 5.691

4.  A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

Authors:  Zafar Iqbal; Mohsin Shahzad; Lisenka E L M Vissers; Monique van Scherpenzeel; Christian Gilissen; Attia Razzaq; Muhammad Yasir Zahoor; Shaheen N Khan; Tjitske Kleefstra; Joris A Veltman; Arjan P M de Brouwer; Dirk J Lefeber; Hans van Bokhoven; Sheikh Riazuddin
Journal:  Eur J Hum Genet       Date:  2012-12-19       Impact factor: 4.246

5.  Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Authors:  Sarah Finlayson; Jacqueline Palace; Katsiaryna Belaya; Timothy J Walls; Fiona Norwood; Georgina Burke; Janice L Holton; Samuel I Pascual-Pascual; Judith Cossins; David Beeson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-02-27       Impact factor: 10.154

6.  Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.

Authors:  Xiaohua Wu; Jeffrey S Rush; Denise Karaoglu; Donna Krasnewich; Mark S Lubinsky; Charles J Waechter; Reid Gilmore; Hudson H Freeze
Journal:  Hum Mutat       Date:  2003-08       Impact factor: 4.878

7.  Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Authors:  G Matthijs; E Schollen; J J Cassiman; V Cormier-Daire; J Jaeken; E van Schaftingen
Journal:  Eur J Hum Genet       Date:  1998 Mar-Apr       Impact factor: 4.246

8.  Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

Authors:  C R Slater; P R W Fawcett; T J Walls; P R Lyons; S J Bailey; D Beeson; C Young; D Gardner-Medwin
Journal:  Brain       Date:  2006-08       Impact factor: 13.501

9.  Congenital myasthenic syndrome caused by mutations in DPAGT.

Authors:  Andrea Klein; Stephanie Robb; Elisabeth Rushing; Wei-Wei Liu; Kasiaryna Belaya; David Beeson
Journal:  Neuromuscul Disord       Date:  2014-11-26       Impact factor: 4.296

10.  Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Authors:  Keivan Basiri; Katsiaryna Belaya; Wei Wei Liu; Susan Maxwell; Maryam Sedghi; David Beeson
Journal:  Neuromuscul Disord       Date:  2013-04-13       Impact factor: 4.296
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  3 in total

1.  DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Authors:  Patricia Yuste-Checa; Ana I Vega; Cristina Martín-Higueras; Celia Medrano; Alejandra Gámez; Lourdes R Desviat; Magdalena Ugarte; Celia Pérez-Cerdá; Belén Pérez
Journal:  PLoS One       Date:  2017-06-29       Impact factor: 3.240

2.  A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.

Authors:  Lillian F Hyde; Yang Kong; Lihong Zhao; Sriganesh Ramachandra Rao; Jieping Wang; Lisa Stone; Andrew Njaa; Gayle B Collin; Mark P Krebs; Bo Chang; Steven J Fliesler; Patsy M Nishina; Jürgen K Naggert
Journal:  Int J Mol Sci       Date:  2022-10-09       Impact factor: 6.208

3.  Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.

Authors:  Rossella Colantuono; Elisa D'Acunto; Daniela Melis; Pietro Vajro; Hudson H Freeze; Claudia Mandato
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-10-01       Impact factor: 3.288
  3 in total

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