Results 91 to 100 of about 774 (106)

Towards a therapy for phosphomannomutase 2 deficiency: the prodrug approach for the delivery of alpha-glucose-1,6-bisphosphate

2019
Phosphomannomutase2 deficit, or PMM2-CDG, is the most common congenital disorder of glycosylation affecting over 1,000 patients globally and it is still without a cure. The majority of the mutations causing the disease destabilize PMM2, which, under physiological conditions, catalyses the conversion of mannose-6-phosphate into mannose- 1-phosphate ...
Sodano F. 1, Rolando B. 1, Rimoli M.G. 2, Cubellis M.V. 3, 4, Monticelli M. 4, Allocca M. 3, 5, Liguori L. 3, 5, Andreotti G. 3, Lazzarato L. 1   +11 more
openaire   +3 more sources

ALDOSE REDUCTASE INHIBITORS FOR TREATMENT OF PHOSPHOMANNOMUTASE 2 DEFICIENCY

2021
PERFETTI RICCARDO, SHENDELMAN SHOSHANA
openaire   +2 more sources

Overexpression of phosphomannomutase increases the production and bioactivities of Ganoderma exopolysaccharides

Carbohydrate Polymers, 2022
Jun-Wei Xu, Chengxiao Wang
exaly  

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

European Journal of Pediatrics, 1998
Mayatepek E
exaly  

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1999
Gert Matthijs, Emile Van Schaftingen, Jaak Jaeken   +2 more
exaly  

Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)

Molecular Genetics and Metabolism, 1999
Gert Matthijs, Els Schollen
exaly  

Hypoglycosylation of Piezo1 and Cavα2δ subunit: relevance for neuronal excitability and neurological disorders associated to Phosphomannomutase 2 deficiency (PMM2-CDG)

The congenital disorders of glycosylation (CDGs) are a disease family caused by mutations in genes involved in the glycosylation pathways. PMM2-CDG, associated with mutations in the phosphomannomutase 2 (PMM2) gene, is the most common CDG subtype and presents with severe neurological alterations such as stroke-like episodes (SLEs).
openaire   +1 more source

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

Brain and Development, 1999
Rita Barone, Jaak Jaeken, Agata Fiumara   +2 more
exaly  

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

European Journal of Paediatric Neurology, 1998
Maja Di Rocco, Roberta Biancheri, R Biancheri   +2 more
exaly  

Hypoglycosylation of a brain glycoprotein (β-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency

Glycobiology, 1997
Jaak Jaeken, Andrea Hoffmann, Jaeken Jaak   +2 more
exaly