Results 171 to 180 of about 3,871 (190)

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

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

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

Journal of Biomolecular Structure and Dynamics, 2021
Nikita Jain, Hatem Zayed
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

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

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Alejandra Gamez, Assoc Prof Dr Jarl Underhaug, Lourdes R Desviat   +2 more
exaly  

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Human Mutation, 2000
Tommy Martinsson
exaly  

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of Neurology, 2014
Rita Barone
exaly  

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

International Journal of Molecular Sciences, 2019
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca   +2 more
exaly  

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Genetics in Medicine, 2019
Peter Witters, Tomas Honzik, Arnaud Bruneel   +2 more
exaly