Results 131 to 140 of about 24,426,163 (152)

Mutations in phosphomannomutase 2 (PMM2) gene - Croatian report.

2005
MUTATIONS IN PHOSPHOMANNOMUTASE 2 (PMM2) GENE-CROATIAN REPORT Šupraha, S. ; Štimac, H., Flögel, M. ; Dumić, J. Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia Congenital disorder of glycosylation (CDG) Ia (MIM≠ 212065) is an autosomal recessive multi-organ disease characterized by severe dysfunction of central and ...
Šupraha Goreta, Sandra, Štimac, Hrvoje, Flögel, Mirna, Dumić, J.   +3 more
openaire   +2 more sources

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

Journal of Inherited Metabolic Disease, 2011
Deficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis.
Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B   +8 more
openaire   +4 more sources

Phosphomannomutase 2: a new potential target for the therapy with pharmacological chaperones

2015
The most frequent glycosylation (CDG) disorder affecting the N-glycosylation pathway is caused by a deficiency of Phosphomannomutase (PMM2) the enzyme that isomerize Mannose-6-Phosphate. For this disorder, which is known as CDG-PMM2 (MIM: 212065) [a], there is no therapy at present, but, at least in principle patients could benefit from a therapy based
Andreotti G. 1, Cimmaruta C. 1, 2, Citro V. 2, Cubellis M.V. 2   +4 more
openaire   +3 more sources

Screening for Mutations and Polymorphisms in Phosphomannomutase 2 Gene (PMM2) in Croatian Population

Journal of research in pharmaceutical sciences, 2014
Introduction: Congenital disorders of glycosylation (CDGs) are a growing group of rare genetic disorders caused by defective glycosylation of glycoconjugates. The most common type of CDGs is PMM2-CDG, caused by reduced N- glycosylation due to phosphomannomutase 2 deficiency as a consequence of various mutations in PMM2 gene.
Šupraha-Goreta, Sandra, Dabelić, Sanja, Štimac, Hrvoje, Dumić, Jerka   +3 more
openaire   +1 more source

Overexpression of phosphomannomutase increases the production and bioactivities of Ganoderma exopolysaccharides

Carbohydrate Polymers, 2022
Jun-Wei Xu, Chengxiao Wang
exaly  

Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

Human Mutation, 2000
S, Vuillaumier-Barrot, C L, Bizec, G, Durand, B, Grandchamp, N, Seta   +4 more
openaire   +2 more sources

Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation

Klinická biochemie a metabolismus, 2016
H Hansíková, N Ondrušková, T Honzík, K Veselá, E Horová, Š Švecová, M Tesařová, J Zeman   +7 more
openaire   +1 more source

ALDOSE REDUCTASE INHIBITORS FOR TREATMENT OF PHOSPHOMANNOMUTASE 2 DEFICIENCY

2021
PERFETTI RICCARDO, SHENDELMAN SHOSHANA
openaire   +2 more sources

Complexes of the enzyme phosphomannomutase/phosphoglucomutase with a slow substrate and an inhibitor

Acta Crystallographica Section F: Structural Biology Communications, 2006
Lesa Beamer
exaly  

Conformational Response to Ligand Binding in Phosphomannomutase2

Journal of Biological Chemistry, 2014
Maria Vittoria Cubellis, Maria Chiara Monti, Giuseppina Andreotti   +2 more
exaly