Results 151 to 160 of about 4,129 (176)

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Molecular Genetics and Metabolism, 2012
We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age.
Honzik, Tomas, Magner, Martin, Krijt, Jakub, Sokolova, Jitka, Vugrek, Oliver, Belužić, Robert, Barić, Ivo, Hansikova, Hana, Elleder, Milan, Vesela, Katerina, Bauerova, Lenka, Ondruskova, Nina, Jesina, Pavel, Zeman, Jiri, Kozich, Viktor   +14 more
openaire   +4 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

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Pediatric Nephrology, 2021
Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation.
Guillaume Dorval, Cécile Jeanpierre, Vincent Morinière, Carole Tournant, Bettina Bessières, Tania Attié-Bittach, Jeanne Amiel, Emmanuel Spaggari, Yves Ville, Elodie Merieau, Marie-Claire Gubler, Sophie Saunier, Laurence Heidet   +12 more
openaire   +2 more sources

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

Screening for mutations in phosphomannomutase 2 (PMM2) gene

Glycoconjugate journal, 2005
Congenital disorder of glycosylation (CDG) Ia (MIM≠ 212065) is an autosomal recessive multi-organ disease characterized by severe dysfunction of central and peripheral nervous system. It is caused by a defective N-linked glycosylation due to phosphomannomutase (PMM) deficiency as a consequence of mutations in PMM2 gene. More than 85 different mutations
Šupraha-Goreta, Sandra, Štimac, Hrvoje, Flogel-Mršić, Mirna, Dumić, Jerka   +3 more
openaire   +2 more sources

Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non‐canonical Wnt5a/Ror2 signalling

Journal of Inherited Metabolic Disease, 2015
AbstractReduced phosphomannomutase 2 activity in man leads to hypoglycosylation of glycoconjugates causing PMM2‐CDG, the most common type of congenital disorders of glycosylation. Here we show that an antisense morpholino‐mediated knockdown of the Xenopus laevis phosphomannomutase 2 gene provoked a general underglycosylation in frog embryos, which led ...
Nastassja, Himmelreich, Lilian T, Kaufmann, Herbert, Steinbeisser, Christian, Körner, Christian, Thiel   +4 more
openaire   +2 more sources

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1

Clinical Genetics, 1999
Carbohydrate‐deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were identified in patients with CDG1 ...
I, Kondo, K, Mizugishi, Y, Yoneda, T, Hashimoto, K, Kuwajima, I, Yuasa, K, Shigemoto, Y, Kuroda   +7 more
openaire   +2 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
Cheng-Xiao Wang, Jun-Wei Xu
exaly