Results 41 to 50 of about 1,710 (156)
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Cell ReportsSummary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic +13 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters +8 more
doaj +1 more source
Congenital disorder of glycosilation PMM2-CDG
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2019 Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common defects are the defects of protein N-glycosylation.
A. A. Kamalova +6 more
openaire +2 more sources
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
doaj +1 more source
Tuning Optoelectronic Properties and Photoelectrochemical Performance of β‐TaON via Vanadium Doping
Small, EarlyView.Vanadium‐doped β‐TaON is studied to elucidate how controlled cation substitution modulates crystal and electronic structures and photoelectrochemical performance. Moderate vanadium incorporation (<10 at.%) retains phase purity, narrows the bandgap, and improves charge transport, whereas excessive doping (>10 at.%) induces secondary phases that suppress
Mirabbos Hojamberdiev +9 more
wiley +1 more source
Three families with mild PMM2‐CDG and normal cognitive development [PDF]
American Journal of Medical Genetics Part A, 2017 Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2‐CDG is the most common subtype among the CDG. The severity of PMM2‐CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death.
Vals, M.A. +7 more
openaire +3 more sources
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
doaj +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.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.
Raphaelle Cagol +6 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
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
doaj +1 more source