Results 141 to 150 of about 1,755 (160)

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

Journal of Inherited Metabolic Disease, 2011
AbstractDeficiency 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.
Ana Isabel, Vega, Celia, Pérez-Cerdá, David, Abia, Alejandra, Gámez, Paz, Briones, Rafael, Artuch, Lourdes R, Desviat, Magdalena, Ugarte, Belén, Pérez   +8 more
openaire   +2 more sources

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Human mutation, 2018
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic ...
Patricia, Yuste-Checa, Sandra, Brasil, Alejandra, Gámez, Jarl, Underhaug, Lourdes R, Desviat, Magdalena, Ugarte, Celia, Pérez-Cerdá, Aurora, Martinez, Belén, Pérez   +8 more
openaire   +1 more source

Phosphomannomutase deficiency (PMM2-CDG)

Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
Serrano, Mercedes||, De Diego, Victor, Muchart, Jordi, Cuadras, Daniel||, Felipe-Rucián, Ana||, Macaya Ruiz, Alfons||, Velázquez-Fragua, Ramón, Poo, M. Pilar, Fons, Carmen||, O'Callaghan, Maria del Mar||, García-Cazorla, Angels||, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura||, Artuch, R.||, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén||, Pérez-Dueñas, Belén||   +21 more
openaire   +1 more source

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

Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach

Journal of Biomolecular Structure and Dynamics, 2021
Hatem Zayed, Nikita Jain, S Udhaya Kumar   +2 more
exaly  

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones

Human Mutation, 2022
Alejandra Gámez, Maria Belén Pérez Gonzalez, Edwin Kirk   +2 more
exaly  

PMM2‐CDG and sensorineural hearing loss

Journal of Inherited Metabolic Disease, 2017
Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, Deniz Yüksel, Lies Keldermans, Gert Matthijs, Jaak Jaeken   +6 more
openaire   +1 more source

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Molecular Genetics and Metabolism, 2023
Gérard Berry, Alanna Strong, Andrew Edmondson   +2 more
exaly  

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

Frontiers in Pediatrics, 2021
Mercedes Serrano, Serrano Mercedes
exaly  

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   +1 more source