Results 151 to 160 of about 3,871 (190)

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. [PDF]

Mol Genet Metab
Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F.   +11 more
europepmc   +1 more source

Genotype-Phenotype Correlations in PMM2-CDG [PDF]

Genes, 2021
PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients.
David Cassiman, Anna Ligęzka, Dulce Quelhas   +2 more
exaly   +4 more sources

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

Human Mutation, 2015
Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity. No curative treatment is available. The present work describes the functional analysis of nine human PMM2 mutant proteins frequently found in PMM2-CDG patients and also two ...
Alejandra Gamez, Lourdes R Desviat, Belen Perez   +2 more
exaly   +4 more sources

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Annals of Neurology, 2019
ObjectivePhosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain‐of‐function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested.
Daniel Cuadras, Rafael Artuch, Jaak Jaeken   +2 more
exaly   +6 more sources

Proteostasis regulators as potential rescuers of PMM2 activity

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2020
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-glycosylation disorder. To date there is no treatment. Following the identification of a number of destabilizing pathogenic variants, our group suggested PMM2-CDG to be a conformational disease.
Vilas, A., Yuste-Checa, P., Gallego, D., Desviat, L., Ugarte, M., Perez-Cerda, C., Gamez, A., Perez, B.   +7 more
exaly   +6 more sources

New and potential strategies for the treatment of PMM2-CDG

Biochimica Et Biophysica Acta - General Subjects, 2020
Mutations in the PMM2 gene cause phosphomannomutase 2 deficiency (PMM2; MIM# 212065), which manifests as a congenital disorder of glycosylation (PMM2-CDG). Mutant PMM2 leads to the reduced conversion of Man-6-P to Man-1-P, which results in low concentrations of guanosine 5'-diphospho-D-mannose, a nucleotide-activated sugar essential for the ...
Alejandra Gamez, Mercedes Serrano, Diana Gallego   +2 more
exaly   +6 more sources

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Abnormal fat distribution in PMM2-CDG

Molecular Genetics and Metabolism, 2013
We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while ...
Wolthuis, D.F., Asbeck, E.V. van, Kozicz, L.T., Morava, E.   +3 more
openaire   +3 more sources