Literature DB >> 35338706

CDG or not CDG.

Hudson H Freeze1, Jaak Jaeken2, Gert Matthijs3.   

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Year:  2022        PMID： 35338706      PMCID： PMC9121739          DOI： 10.1002/jimd.12498

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.750


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  12 in total

1.  On the nomenclature of congenital disorders of glycosylation (CDG).

Authors:  J Jaeken; T Hennet; H H Freeze; G Matthijs
Journal:  J Inherit Metab Dis       Date:  2008-10-24       Impact factor: 4.982

2.  GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Authors:  Amy J LaCroix; Deborah Stabley; Rebecca Sahraoui; Margaret P Adam; Michele Mehaffey; Kelly Kernan; Candace T Myers; Carrie Fagerstrom; George Anadiotis; Yassmine M Akkari; Katherine M Robbins; Karen W Gripp; Wagner A R Baratela; Michael B Bober; Angela L Duker; Dan Doherty; Jennifer C Dempsey; Daniel G Miller; Martin Kircher; Michael J Bamshad; Deborah A Nickerson; Heather C Mefford; Katia Sol-Church
Journal:  Am J Hum Genet       Date:  2018-12-13       Impact factor: 11.025

3.  Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Authors:  G Matthijs; E Schollen; E Pardon; M Veiga-Da-Cunha; J Jaeken; J J Cassiman; E Van Schaftingen
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

4.  Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.

Authors:  Eline Blommaert; Romain Péanne; Natalia A Cherepanova; Daisy Rymen; Frederik Staels; Jaak Jaeken; Valérie Race; Liesbeth Keldermans; Erika Souche; Anniek Corveleyn; Rebecca Sparkes; Kaustuv Bhattacharya; Christine Devalck; Rik Schrijvers; François Foulquier; Reid Gilmore; Gert Matthijs
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-29       Impact factor: 11.205

5.  Chemical Therapies for Congenital Disorders of Glycosylation.

Authors:  Paulina Sosicka; Bobby G Ng; Hudson H Freeze
Journal:  ACS Chem Biol       Date:  2021-11-17       Impact factor: 4.634

6.  CDG nomenclature: time for a change!

Authors:  Jaak Jaeken; Thierry Hennet; Gert Matthijs; Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09

7.  A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Authors:  Carlos R Ferreira; Zhi-Jie Xia; Aurélie Clément; David A Parry; Mariska Davids; Fulya Taylan; Prashant Sharma; Coleman T Turgeon; Bernardo Blanco-Sánchez; Bobby G Ng; Clare V Logan; Lynne A Wolfe; Benjamin D Solomon; Megan T Cho; Ganka Douglas; Daniel R Carvalho; Heiko Bratke; Marte Gjøl Haug; Jennifer B Phillips; Jeremy Wegner; Michael Tiemeyer; Kazuhiro Aoki; Ann Nordgren; Anna Hammarsjö; Angela L Duker; Luis Rohena; Hanne Buciek Hove; Jakob Ek; David Adams; Cynthia J Tifft; Tito Onyekweli; Tara Weixel; Ellen Macnamara; Kelly Radtke; Zöe Powis; Dawn Earl; Melissa Gabriel; Alvaro H Serrano Russi; Lauren Brick; Mariya Kozenko; Emma Tham; Kimiyo M Raymond; John A Phillips; George E Tiller; William G Wilson; Rizwan Hamid; May C V Malicdan; Gen Nishimura; Giedre Grigelioniene; Andrew Jackson; Monte Westerfield; Michael B Bober; William A Gahl; Hudson H Freeze
Journal:  Am J Hum Genet       Date:  2018-10-04       Impact factor: 11.025

8.  Small RNAs are modified with N-glycans and displayed on the surface of living cells.

Authors:  Ryan A Flynn; Kayvon Pedram; Stacy A Malaker; Pedro J Batista; Benjamin A H Smith; Alex G Johnson; Benson M George; Karim Majzoub; Peter W Villalta; Jan E Carette; Carolyn R Bertozzi
Journal:  Cell       Date:  2021-05-17       Impact factor: 66.850

9.  ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Authors:  Hind Alsharhan; Miao He; Andrew C Edmondson; Earnest J P Daniel; Jie Chen; Tyhiesia Donald; Somayeh Bakhtiari; David J Amor; Elizabeth A Jones; Grace Vassallo; Marie Vincent; Benjamin Cogné; Wallid Deb; Arend H Werners; Sheng C Jin; Kaya Bilguvar; John Christodoulou; Richard I Webster; Katherine R Yearwood; Bobby G Ng; Hudson H Freeze; Michael C Kruer; Dong Li; Kimiyo M Raymond; Elizabeth J Bhoj; Andrew K Sobering
Journal:  J Inherit Metab Dis       Date:  2021-03-26       Impact factor: 4.750

10.  Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.

Authors:  Magda Cannata Serio; Laurie A Graham; Angel Ashikov; Tom H Stevens; Matias Simons; Dirk J Lefeber; Lars Elmann Larsen; Kimiyo Raymond; Sharita Timal; Gwenn Le Meur; Margret Ryan; Elzbieta Czarnowska; Jos C Jansen; Miao He; Can Ficicioglu; Pavel Pichurin; Linda Hasadsri; Berge Minassian; Alessandra Rugierri; Hannu Kalimo; W Alfredo Ríos-Ocampo; Christian Gilissen; Richard Rodenburg; Johan W Jonker; Adriaan G Holleboom; Eva Morava; Joris A Veltman; Piotr Socha
Journal:  Hepatology       Date:  2020-12       Impact factor: 17.298
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  1 in total

1.  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
  1 in total

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