Results 11 to 20 of about 2,410 (179)

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

Molecular Genetics and Metabolism Reports
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai   +3 more
doaj   +4 more sources

Anthropometric Phenotype of Patients with PMM2-CDG [PDF]

Children, 2021
Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Anna Bogdańska, Anna Tylki-Szymańska   +3 more
doaj   +4 more sources

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]

Orphanet Journal of Rare Diseases, 2020
Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG ...
Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt   +4 more
doaj   +4 more sources

Platelet Membrane Glycoprofiling in a PMM2-CDG Patient [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2021
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as ...
G.M. Papazoglu, S.M. Silvera Ruiz, R. Salinas, M.I. Pereira, M.A. Cubilla, F. Pesaola, S. Ghione, N. Ramadán, I. Martinez-Duncker, C.G. Asteggiano   +9 more
doaj   +8 more sources

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

The Cerebellum, 2021
We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation.
Battini, Roberta, Martinelli, Diego, Martinelli D., Morrone, Amelia, Fiumara A., Pettinato F., Garozzo D., Jaeken, Jaak, Madeo A., Matthijs G., Mostile, Giovanni, Battini R., Biamino E., Gasperini S., Jaeken J., Frattini, Daniele, Di Rocco M., Sortino, Giuseppe, Sirchia, Fabio, Sturiale, Luisa, Barone, Rita, Mostile G., Pettinato, Fabio, Madeo, Annalisa, Di Rocco, Maja, Frattini D., Barone R., Rizzo R., Garozzo, Domenico, Parini, Rossella, Sirchia F., Biamino, Elisa, Rizzo, Renata, Matthijs, Gert, Sortino G., Gasperini, Serena, Fiumara, Agata, Morrone A., Sturiale L., Parini R.   +39 more
core   +10 more sources

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

Human Mutation, 2016
© 2015 WILEY PERIODICALS, INC.. 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.
Pérez, Belén, Ugarte, Magdalena, Brasil, Sandra, Desviat, Lourdes R., Gámez, Alejandra, Yuste-Checa, Patricia, Pérez-Cerdá, Celia   +6 more
core   +5 more sources

New and potential strategies for the treatment of PMM2-CDG [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2021
Background: Mutations in the PMM2 gene cause phosphomannomutase 2 deficiency (PMM2; MIM# 212065), which manifests as a congenital disorder of glycosylation (PMM2-CDG).
Gámez Abascal, María Alejandra, Vilas Lagoa, Alicia, Serrano, Mercedes, Gallego Martínez, Diana, Pérez González, María Belén   +4 more
core   +5 more sources

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +2 more sources

Renal involvement in PMM2-CDG, a mini-review [PDF]

Molecular Genetics and Metabolism, 2018
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms,
Zubaida Saifudeen, Elena Levtchenko, Peter Witters, Ruqaiah Altassan, Jaak Jaeken, Eva Morava, Cassiman, David, Dulce Quelhas, Saifudeen, Zubaida, Jaeken, Jaak, Morava, Eva, Altassan, Ruqaiah, David Cassiman, Levtchenko, Elena, Quelhas, Dulce, Witters, Peter   +15 more
core   +3 more sources

Mannose supplementation in PMM2-CDG [PDF]

Orphanet Journal of Rare Diseases, 2021
In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG.
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt   +5 more
doaj   +3 more sources