Results 161 to 170 of about 2,410 (179)

New and potential strategies for the treatment of PMM2-CDG

Biochimica Et Biophysica Acta - General Subjects, 2020
Mercedes Serrano, Alejandra Gamez, Belén Pérez   +2 more
exaly  

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
exaly  

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

Cerebellum, 2021
Rita Barone, Gert Matthijs, Serena Gasperini   +2 more
exaly  

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

Molecular Genetics and Metabolism, 2023
Gerard Berry, Alanna Strong, Andrew C Edmondson   +2 more
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

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

Human Mutation, 2015
Celia Pérez-Cerdá, Alejandra Gamez, Belén Pérez   +2 more
exaly  

PMM2‐CDG and sensorineural hearing loss

Journal of Inherited Metabolic Disease, 2017
Matthijs, Gert, Kasapkara, Cigdem Seher, Baris, ZEREN, Kilic, Mustafa, Yuksel, Deniz, Keldermans, Lies, Jaeken, Jaak   +6 more
openaire   +2 more sources

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

European Journal of Human Genetics, 1999
Susanne Kjaergaard, Marianne Schwartz, Flemming Skovby   +2 more
exaly  

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

Human Mutation, 2000
Nathalie Seta, Tommy Martinsson, Els Schollen   +2 more
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Celia Pérez-Cerdá, Alejandra Gamez, Belén Pérez   +2 more
exaly