Works matching DE "PHOSPHOMANNOMUTASE"

Results: 20

N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response.

Published in:

Glycobiology, 2014, v. 24, n. 4, p. 392, doi. 10.1093/glycob/cwu006

By:

He, Ping;
Srikrishna, Geetha;
Freeze, Hudson H

Publication type:

Article

Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia).

Published in:

Cerebellum, 2012, v. 11, n. 2, p. 557, doi. 10.1007/s12311-011-0313-y

By:

Casado, M.;
O'Callaghan, M.;
Montero, R.;
Pérez-Cerda, C.;
Pérez, B.;
Briones, P.;
Quintana, E.;
Muchart, J.;
Aracil, A.;
Pineda, M.;
Artuch, R.

Publication type:

Article

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1, doi. 10.1038/ejhg.2013.298

By:

Jaeken, Jaak;
Lefeber, Dirk;
Matthijs, Gert

Publication type:

Article

Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Published in:

Pediatric Radiology, 2014, v. 44, n. 2, p. 222, doi. 10.1007/s00247-013-2782-2

By:

Al-Maawali, Almundher;
Miller, Elka;
Schulze, Andreas;
Yoon, Grace;
Blaser, Susan

Publication type:

Article

Aktivita fosfomanomutázy 2 u pacientů s podezřením na dědičnou poruchu glykosylace.

Published in:

Klinická Biochemie a Metabolismus, 2016, v. 24, n. 2, p. 67, doi. 10.61568/kbm.2016.012

By:

Hansíková, H.;
Ondrušková, N.;
Honzík, T.;
Veselá, K.;
Horová, E.;
Švecová, Š.;
Tesařová, M.;
Zeman, J.

Publication type:

Article

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

Published in:

2016

By:

García-López, Roberto;
de la Morena-Barrio, María Eugenia;
Alsina, Laia;
Pérez-Dueñas, Belén;
Jaeken, Jaak;
Serrano, Mercedes;
Casado, Mercedes;
Hernández-Caselles, Trinidad

Publication type:

Correction Notice

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

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158863

By:

García-López, Roberto;
de la Morena-Barrio, María Eugenia;
Alsina, Laia;
Pérez-Dueñas, Belén;
Jaeken, Jaak;
Serrano, Mercedes;
Casado, Mercedes;
Hernández-Caselles, Trinidad

Publication type:

Article

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.

Published in:

Nature Genetics, 2014, v. 46, n. 10, p. 1115, doi. 10.1038/ng.3078

By:

Chen, Yuhong;
Luo, Qian;
Cheng, Yilian;
Yang, Quanyao;
Wang, Ningli;
Khor, Chiea Chuen;
Pang, Chi Pui;
Sun, Xinghuai;
Yang, Zhenglin;
Lin, Ying;
Vithana, Eranga N;
Jia, Liyun;
Zuo, Xianbo;
Zhang, Xuejun;
Wong, Tien Yin;
Li, Zheng;
Mani, Baskaran;
Guzman, Celeste;
Aung, Tin;
Chen, Li Jia

Publication type:

Article

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.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2218, doi. 10.3390/ijms19082218

By:

Citro, Valentina;
Cimmaruta, Chiara;
Monticelli, Maria;
Riccio, Guglielmo;
Hay Mele, Bruno;
Cubellis, Maria Vittoria;
Andreotti, Giuseppina

Publication type:

Article

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 619, doi. 10.3390/ijms19020619

By:

Izquierdo-Serra, Mercè;
Martínez-Monseny, Antonio F.;
López, Laura;
Carrillo-García, Julia;
Edo, Albert;
Ortigoza-Escobar, Juan Darío;
García, Óscar;
Cancho-Candela, Ramón;
Carrasco-Marina, M. Llanos;
Gutiérrez-Solana, Luis G.;
Cuadras, Daniel;
Muchart, Jordi;
Montero, Raquel;
Artuch, Rafael;
Pérez-Cerdá, Celia;
Pérez, Belén;
Pérez-Dueñas, Belén;
Macaya, Alfons;
Fernández-Fernández, José M.;
Serrano, Mercedes

Publication type:

Article

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189629

By:

Citro, Valentina;
Cimmaruta, Chiara;
Liguori, Ludovica;
Viscido, Gaetano;
Cubellis, Maria Vittoria;
Andreotti, Giuseppina

Publication type:

Article

Role of phage ϕ1 in two strains of Salmonella Rissen, sensitive and resistant to phage ϕ1.

Published in:

BMC Microbiology, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12866-018-1360-z

By:

Papaianni, Marina;
Contaldi, Felice;
Fulgione, Andrea;
Iannelli, Domenico;
Capparelli, Rosanna;
Woo, Sheridan L.;
Casillo, Angela;
Corsaro, Maria Michela;
Parrilli, Ermenegilda;
Marcolungo, Luca;
Rossato, Marzia;
Delledonne, Massimo;
Garonzi, Marianna

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-170

By:

Morena-Barrio, Maria E de la;
Hernández-Caselles, Trinidad;
Corral, Javier;
García-López, Roberto;
Martínez-Martínez, Irene;
Pérez-Dueñas, Belen;
Altisent, Carmen;
Sevivas, Teresa;
Kristensen, Soren R.;
Guillén-Navarro, Encarna;
Miñano, Antonia;
Vicente, Vicente;
Jaeken, Jaak;
Lozano, Maria L.

Publication type:

Article

Anthropometric Phenotype of Patients with PMM2-CDG.

Published in:

Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100852

By:

Lipiński, Patryk;
Różdżyńska-Świątkowska, Agnieszka;
Bogdańska, Anna;
Tylki-Szymańska, Anna

Publication type:

Article

Phosphoglucomutase is absent in Trypanosoma brucei and redundantly substituted by phosphomannomutase and phospho- N-acetylglucosamine mutase.

Published in:

Molecular Microbiology, 2012, v. 85, n. 3, p. 513, doi. 10.1111/j.1365-2958.2012.08124.x

By:

Bandini, Giulia;
Mariño, Karina;
Güther, M. Lucia Sampaio;
Wernimont, Amy K.;
Kuettel, Sabine;
Qiu, Wei;
Afzal, Shamshad;
Kelner, Anna;
Hui, Raymond;
Ferguson, Michael A. J.

Publication type:

Article

Multienzymatic cascade synthesis of fucosyloligosaccharide via a two-step fermentation strategy in Escherichia coli.

Published in:

Biotechnology Letters, 2016, v. 38, n. 10, p. 1747, doi. 10.1007/s10529-016-2151-y

By:

Qin, Hui-Min;
Li, Songtao;
Zhang, Yu-Fu;
Wang, Jian-Wen;
Li, Jixuan;
Song, Shiyi;
Lu, Fuping;
Li, Yu

Publication type:

Article

Cloning, expression and characterization of a phosphoglucomutase/phosphomannomutase from sphingan-producing Sphingomonas sanxanigenens.

Published in:

Biotechnology Letters, 2013, v. 35, n. 8, p. 1265, doi. 10.1007/s10529-013-1193-7

By:

Huang, Haidong;
Li, Xiaoyan;
Wu, Mengmeng;
Wang, Shengxiu;
Li, Guoqiang;
Ma, Ting

Publication type:

Article

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

Published in:

PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139882

By:

Andreotti, Giuseppina;
Monti, Maria Chiara;
Citro, Valentina;
Cubellis, Maria Vittoria

Publication type:

Article

Deficit fosfomanomutázy 2: klinická, biochemická a molekulárně-genetická charakteristika 22 pacientů diagnostikovaných v České republice.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2018, v. 73, n. 6, p. 365

By:

Čechová, A.;
Ondrušková, N.;
Tesařová, M.;
Hansíková, H.;
Zeman, J.;
Honzík, T.

Publication type:

Article

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Published in:

2017

By:

Serrano, Natalia Lourdes;
De Diego, Victor;
Cuadras, Daniel;
Monseny, Antonio F. Martinez;
Velázquez-Fragua, Ramón;
López, Laura;
Felipe, Ana;
Gutiérrez-Solana, Luis G.;
Macaya, Alfons;
Pérez-Dueñas, Belén;
Serrano, Mercedes;
Martinez Monseny, Antonio F;
CDG Spanish-Consortium

Publication type:

journal article