266 related articles for article (PubMed ID: 24139637)
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; 8():170. PubMed ID: 24139637
[TBL] [Abstract][Full Text] [Related]
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; 11(7):e0158863. PubMed ID: 27415628
[TBL] [Abstract][Full Text] [Related]
3. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M; Roda C; Monin ML; Arion A; Barth M; Bednarek N; Bidet M; Bloch C; Boddaert N; Borgel D; Brassier A; Brice A; Bruneel A; Buissonnière R; Chabrol B; Chevalier MC; Cormier-Daire V; De Barace C; De Maistre E; De Saint-Martin A; Dorison N; Drouin-Garraud V; Dupré T; Echenne B; Edery P; Feillet F; Fontan I; Francannet C; Labarthe F; Gitiaux C; Héron D; Hully M; Lamoureux S; Martin-Coignard D; Mignot C; Morin G; Pascreau T; Pincemaille O; Polak M; Roubertie A; Thauvin-Robinet C; Toutain A; Viot G; Vuillaumier-Barrot S; Seta N; De Lonlay P
J Med Genet; 2017 Dec; 54(12):843-851. PubMed ID: 28954837
[TBL] [Abstract][Full Text] [Related]
4. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Budhraja R; Radenkovic S; Jain A; Muffels IJJ; Ismaili MHA; Kozicz T; Pandey A; Morava E
Mol Genet Metab; 2024 Jun; 142(2):108487. PubMed ID: 38733638
[TBL] [Abstract][Full Text] [Related]
5. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Chan B; Clasquin M; Smolen GA; Histen G; Powe J; Chen Y; Lin Z; Lu C; Liu Y; Cang Y; Yan Z; Xia Y; Thompson R; Singleton C; Dorsch M; Silverman L; Su SM; Freeze HH; Jin S
Hum Mol Genet; 2016 Jun; 25(11):2182-2193. PubMed ID: 27053713
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26785728
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22956764
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 26014514
[TBL] [Abstract][Full Text] [Related]
9. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Masunaga Y; Mochizuki M; Kadoya M; Wada Y; Okamoto N; Fukami M; Kato F; Saitsu H; Ogata T
Endocr J; 2021 May; 68(5):605-611. PubMed ID: 33583911
[TBL] [Abstract][Full Text] [Related]
10. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra M; Martínez-Monseny AF; López L; Carrillo-García J; Edo A; Ortigoza-Escobar JD; García Ó; Cancho-Candela R; Carrasco-Marina ML; Gutiérrez-Solana LG; Cuadras D; Muchart J; Montero R; Artuch R; Pérez-Cerdá C; Pérez B; Pérez-Dueñas B; Macaya A; Fernández-Fernández JM; Serrano M
Int J Mol Sci; 2018 Feb; 19(2):. PubMed ID: 29470411
[TBL] [Abstract][Full Text] [Related]
11. Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).
Taday R; Grüneberg M; DuChesne I; Reunert J; Marquardt T
Orphanet J Rare Dis; 2020 Sep; 15(1):258. PubMed ID: 32962735
[TBL] [Abstract][Full Text] [Related]
12. 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; 531(2):506-9. PubMed ID: 23988505
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
de Haas P; de Jonge MI; Koenen HJPM; Joosten B; Janssen MCH; de Boer L; Hendriks WJAJ; Lefeber DJ; Cambi A
Front Immunol; 2022; 13():869031. PubMed ID: 35603178
[TBL] [Abstract][Full Text] [Related]
14. Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
Lao JP; DiPrimio N; Prangley M; Sam FS; Mast JD; Perlstein EO
G3 (Bethesda); 2019 Feb; 9(2):413-423. PubMed ID: 30530630
[TBL] [Abstract][Full Text] [Related]
15. The Analysis of Variants in the General Population Reveals That
Citro V; Cimmaruta C; Monticelli M; Riccio G; Hay Mele B; Cubellis MV; Andreotti G
Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30061496
[TBL] [Abstract][Full Text] [Related]
16. 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; 10():138. PubMed ID: 26502900
[TBL] [Abstract][Full Text] [Related]
17. 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; 3(6):393-8. PubMed ID: 11715002
[TBL] [Abstract][Full Text] [Related]
18. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Witters P; Edmondson AC; Lam C; Johnsen C; Patterson MC; Raymond KM; He M; Freeze HH; Morava E
Orphanet J Rare Dis; 2021 Feb; 16(1):102. PubMed ID: 33632285
[TBL] [Abstract][Full Text] [Related]
19. 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; 11(5):599-604. PubMed ID: 11875054
[TBL] [Abstract][Full Text] [Related]
20. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN; Radenkovic S; Saraswat M; Garapati K; Ranatunga W; Krzysciak W; Yanaihara H; Preston G; Brucker W; McGovern RM; Reid JM; Cassiman D; Muthusamy K; Johnsen C; Mercimek-Andrews S; Larson A; Lam C; Edmondson AC; Ghesquière B; Witters P; Raymond K; Oglesbee D; Pandey A; Perlstein EO; Kozicz T; Morava E
Ann Neurol; 2021 Dec; 90(6):887-900. PubMed ID: 34652821
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
