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Items: 1 to 20 of 155

1.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

de la Morena-Barrio ME, Hernández-Caselles T, Corral J, García-López R, Martínez-Martínez I, Pérez-Dueñas B, Altisent C, Sevivas T, Kristensen SR, Guillén-Navarro E, Miñano A, Vicente V, Jaeken J, Lozano ML.

Orphanet J Rare Dis. 2013 Oct 20;8:170. doi: 10.1186/1750-1172-8-170.

2.

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado M, Hernández-Caselles T.

PLoS One. 2016 Jul 14;11(7):e0158863. doi: 10.1371/journal.pone.0158863. eCollection 2016. Erratum in: PLoS One. 2016 Oct 27;11(10 ):e0165901.

3.

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH.

Genet Med. 2001 Nov-Dec;3(6):393-8.

PMID:
11715002
4.

PMM2-CDG: phenotype and genotype in four affected family members.

Bortot B, Cosentini D, Faletra F, Biffi S, De Martino E, Carrozzi M, Severini GM.

Gene. 2013 Dec 1;531(2):506-9. doi: 10.1016/j.gene.2013.07.083. Epub 2013 Aug 26.

PMID:
23988505
5.

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B.

J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4.

PMID:
21541725
6.

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF.

Mol Cell Proteomics. 2016 Apr;15(4):1435-52. doi: 10.1074/mcp.M115.054122. Epub 2016 Jan 19.

7.

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B.

Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23.

PMID:
26014514
8.

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R.

Mol Biol Cell. 2012 Nov;23(21):4175-87. doi: 10.1091/mbc.E12-05-0411. Epub 2012 Sep 5.

9.

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH.

Hum Mol Genet. 2002 Mar 1;11(5):599-604.

PMID:
11875054
10.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y.

11.

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Thompson DA, Lyons RJ, Russell-Eggitt I, Liasis A, Jägle H, Grünewald S.

J Inherit Metab Dis. 2013 Nov;36(6):1039-47. doi: 10.1007/s10545-013-9594-2. Epub 2013 Feb 22.

PMID:
23430200
12.

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G.

Mol Genet Metab. 2007 Apr;90(4):408-13. Epub 2007 Feb 16.

PMID:
17307006
13.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A.

J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30.

PMID:
25355454
14.

Functional analysis of T-cell mutants defective in the biosynthesis of glycosylphosphatidylinositol anchor. Relative importance of glycosylphosphatidylinositol anchor versus N-linked glycosylation in T-cell activation.

Thomas LJ, DeGasperi R, Sugiyama E, Chang HM, Beck PJ, Orlean P, Urakaze M, Kamitani T, Sambrook JF, Warren CD, et al.

J Biol Chem. 1991 Dec 5;266(34):23175-84.

15.

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

Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M.

Clin Chem. 2016 Jan;62(1):208-17. doi: 10.1373/clinchem.2015.243279. Epub 2015 Oct 1.

16.
17.

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L.

Ann Hum Genet. 2007 May;71(Pt 3):348-53. Epub 2006 Dec 12.

18.

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.

de la Morena-Barrio ME, Di Michele M, Lozano ML, Rivera J, Pérez-Dueñas B, Altisent C, Sevivas T, Vicente V, Jaeken J, Freson K, Corral J.

Thromb Res. 2014 Mar;133(3):412-7. doi: 10.1016/j.thromres.2013.12.024. Epub 2013 Dec 21.

PMID:
24388574
19.

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B.

Hum Mutat. 2000 Nov;16(5):386-94.

PMID:
11058895
20.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D.

Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4.

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