Results 51 to 60 of about 1,755 (160)
Çocuk Dergisi, 2023 Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date.
Sebile Kılavuz +9 more
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The FASEB Journal, 2013 Congenital Disorders of Glycosylation (CDGs) are rare diseases characterized by wide spectrum clinical abnormalities and impaired glycosylation. The most common CDG subtype, PMM2‐CDG, results from mutations in PMM2, which encodes the phosphomannomutase (pmm) enzyme that converts mannose‐6‐P (M6P) to mannose‐1‐P (M1P).
Richard Anthony Steet +4 more
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
Genes, 2023 Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to the disease pathology.
Anna N. Ligezka +12 more
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A new insight into PMM2 mutations in the French population [PDF]
Human Mutation, 2005 Congenital disorder of Glycosylation type Ia is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773.1, gene ID 5373).
Christiane Le Bizec +5 more
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JIMD Reports, 2020 Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies.
Zhen Qian +4 more
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Small, EarlyView.A polysulfide‐regulating covalent organic framework (TUS‐44) integrating tetrathiafulvalene and crown‐ether linkers forms an electron‐delocalized, ion‐coordinative network that synergistically mediates Li–S redox chemistry. When interfaced with graphene, the TUS‐44@G layer functions as a catalytic and chemisorptive interface, enabling efficient ...
Kai Sun +11 more
wiley +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
G3: Genes, Genomes, Genetics, 2019 Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao +5 more
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Molecular Genetics and Metabolism Reports, 2021 Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński +2 more
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