Results 31 to 40 of about 24,426,163 (152)

Molecular genetic analysis of phosphomannomutase genes in Triticum monococcum [PDF]

Crop Journal, 2015
In higher plants, phosphomannomutase (PMM) is essential for synthesizing the antioxidant ascorbic acid through the Smirnoff–Wheeler pathway. Previously, we characterized six PMM genes (TaPMM-A1, A2, B1, B2, D1 and D2) in common wheat (Triticum aestivum ...
Chunmei Yu , Xinyan Liu, Qian Zhang , Xinyu He , Wan Huai, Baohua Wang , Yunying Cao , Rong Zhou   +7 more
doaj   +2 more sources

Construction of Yeast One-Hybrid Library of Dendrobium huoshanense and Screening of Potential Transcription Factors Regulating DhPMM Gene Expression [PDF]

Biomolecules
Dendrobium huoshanense, an endangered orchid species, is renowned for its polysaccharides with vast pharmacological significance in stems. Phosphomannomutase (PMM) critically regulates polysaccharide accumulation.
Jing Wu, Shuting Wang, Shihai Xing, Daiyin Peng   +3 more
doaj   +2 more sources

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractPhosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder of glycosylation (PMM2‐CDG), is a severe condition, which has no cure. Due to the identification of destabilizing mutations, our group aims at increasing residual activity in PMM2‐CDG patients, searching for pharmacochaperones.
Alvaro Briso‐Montiano, Francisco Del Caño‐Ochoa, Alicia Vilas, Adrián Velázquez‐Campoy, Vicente Rubio, Belén Pérez, Santiago Ramón‐Maiques   +6 more
openaire   +3 more sources

Characterization and regulation of the Pseudomonas aeruginosaalgC gene encoding phosphomannomutase.

, 1992
Characterization and regulation of the Pseudomonas aeruginosaalgC gene encoding ...
Nicolette Anne. Zielinski (7980344)
core   +6 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

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

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation

Frontiers in Immunology, 2022
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi   +10 more
doaj   +1 more source

Metabolic Deregulation in Pulmonary Hypertension

Current Issues in Molecular Biology, 2023
The high morbidity and mortality rate of pulmonary arterial hypertension (PAH) is partially explained by metabolic deregulation. The present study complements our previous publication in “Genes” by identifying significant increases of the glucose ...
Rajamma Mathew, Sanda Iacobas, Jing Huang, Dumitru Andrei Iacobas   +3 more
doaj   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +2 more sources

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Frontiers in Genetics, 2020
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Petr Jabandziev, Ondrej Slaby, Ondrej Slaby, Dagmar Prochazkova, Dagmar Prochazkova   +14 more
doaj   +1 more source