Literature DB >> 10527672

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

G Matthijs1, E Schollen, L Heykants, S Grünewald.   

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Year:  1999        PMID： 10527672     DOI： 10.1006/mgme.1999.2914

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  11 in total

Review 1.  Structures of proteins of biomedical interest from the Center for Eukaryotic Structural Genomics.

Authors:  George N Phillips; Brian G Fox; John L Markley; Brian F Volkman; Euiyoung Bae; Eduard Bitto; Craig A Bingman; Ronnie O Frederick; Jason G McCoy; Betsy L Lytle; Brad S Pierce; Jikui Song; Simon N Twigger
Journal:  J Struct Funct Genomics       Date:  2007-09-06

2.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

3.  Three families with mild PMM2-CDG and normal cognitive development.

Authors:  Mari-Anne Vals; Eva Morava; Kai Teeäär; Riina Zordania; Sander Pajusalu; Dirk J Lefeber; Katrin Õunap
Journal:  Am J Med Genet A       Date:  2017-04-19       Impact factor: 2.802

4.  The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Authors:  B Pérez; P Briones; D Quelhas; R Artuch; A I Vega; E Quintana; L Gort; M J Ecay; G Matthijs; M Ugarte; C Pérez-Cerdá
Journal:  JIMD Rep       Date:  2011-06-22

5.  A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Authors:  Wenyue Zhang; Philip M James; Bobby G Ng; Xueli Li; Baoyun Xia; Jiang Rong; Ghazia Asif; Kimiyo Raymond; Melanie A Jones; Madhuri Hegde; Tongzhong Ju; Richard D Cummings; Katie Clarkson; Tim Wood; Cornelius F Boerkoel; Hudson H Freeze; Miao He
Journal:  Clin Chem       Date:  2015-10-01       Impact factor: 8.327

6.  Ophthalmic findings in an infant with phosphomannomutase deficiency.

Authors:  Wyatt B Messenger; Paul Yang; Mark E Pennesi
Journal:  Doc Ophthalmol       Date:  2014-02-04       Impact factor: 2.379

7.  Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.

Authors:  Giuseppina Andreotti; Israel Cabeza de Vaca; Angelita Poziello; Maria Chiara Monti; Victor Guallar; Maria Vittoria Cubellis
Journal:  J Biol Chem       Date:  2014-10-16       Impact factor: 5.157

8.  Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Authors:  Bart P van de Warrenburg; Meyke I Schouten; Susanne T de Bot; Sascha Vermeer; Rowdy Meijer; Maartje Pennings; Christian Gilissen; Michèl Aap Willemsen; Hans Scheffer; Erik-Jan Kamsteeg
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

9.  The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.

Authors:  Valentina Citro; Chiara Cimmaruta; Maria Monticelli; Guglielmo Riccio; Bruno Hay Mele; Maria Vittoria Cubellis; Giuseppina Andreotti
Journal:  Int J Mol Sci       Date:  2018-07-30       Impact factor: 5.923

10.  Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Authors:  Raja Brauner; Joelle Bignon-Topalovic; Anu Bashamboo; Ken McElreavey
Journal:  PLoS One       Date:  2020-12-03       Impact factor: 3.240
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