Results 1 to 10 of about 768 (104)

PMM2-CDG caused by uniparental disomy: Case report and literature review [PDF]

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Eva Morava, Susan A. Berry, Belén Pérez   +2 more
exaly   +3 more sources

A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses [PDF]

Orphanet Journal of Rare Diseases
PMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum.
Dulce Quelhas, Ricardo Ferraz, Luisa Azevedo   +2 more
exaly   +3 more sources

The development of end stage renal disease in two patients with PMM2-CDG [PDF]

JIMD Reports, 2022
We report two patients with PMM2‐CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2‐CDG and have rarely been reported as the cause of death.
Gerard Berry, William J Brucker, Nancy Rodig   +2 more
exaly   +3 more sources

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin [PDF]

Molecular Genetics and Metabolism Reports, 2020
Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern ...
Ivan Martinez-Duncker
exaly   +4 more sources

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira   +13 more
doaj   +2 more sources

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways, the functional consequences of these alterations remain poorly understood.
Gallego D, Andreotti G, Monticelli M, Paris D, Martín-Martínez A, Gámez A, Serrano M, Córdoba-Caballero J, Seoane P, Ranea JAG, Pérez B.   +10 more
europepmc   +2 more sources

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase 2 congenital disorder of glycosylation (PMM2‐CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose‐6‐phosphate into mannose‐1‐phosphate (M1P) and disrupts N‐linked glycosylation.
Serrano M, Epifani F, Marino R, McWilliams P.   +3 more
europepmc   +2 more sources

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway [PDF]

Frontiers in Immunology
IntroductionGlycosylation is a post-translational modification that plays a crucial role in immune system activity. Phosphomannomutase 2-Congenital Disorder of Glycosylation (PMM2-CDG) is a rare genetic disease affecting glycosylation with a multi ...
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Pedro Granjo, Pedro Granjo, Pedro Granjo, Rebeka Kodríková, Marta Falcão, Marta Falcão, Marta Falcão, Ana C. Santos, Ana C. Santos, Ana C. Santos, Inês Teodoro, Inês Teodoro, Inês Teodoro, Zuzana Pakanová, Marek Nemčovič, Jan Mucha, Margarida Castro-Caldas, Margarida Castro-Caldas, Ana R. Grosso, Ana R. Grosso, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula A. Videira, Paula A. Videira, Paula A. Videira   +28 more
doaj   +2 more sources

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report [PDF]

Italian Journal of Pediatrics, 2022
Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1).
E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein, F. Foulquier   +6 more
doaj   +2 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   +2 more sources