Results 91 to 100 of about 11,049 (200)
Molecular Genetics and Metabolism Reports, 2018 Glycosylphosphatidylinositol anchored proteins (GPI-APs) represent a class of soluble proteins attached to the external leaflet of the plasma membrane by a post-translation modification, the GPI anchor.
Emanuela Manea
doaj +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
The Journal of Physiology, EarlyView.Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise +2 more
wiley +1 more source
Molecular Genetics and Metabolism ReportsInherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong +3 more
doaj +1 more source
L-Fucose treatment of FUT8-CDG
Molecular Genetics and Metabolism Reports, 2020 FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities.
Julien H. Park +10 more
doaj +1 more source
hERG1 channels and potential therapeutics for long QT syndrome
The Journal of Physiology, EarlyView.Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider +3 more
wiley +1 more source
Chemistry – A European Journal, Volume 32, Issue 26, 11 July 2026.The introduction outlines the review scope. Microbial cell factories as living drugs cover host–gut microbiota, bacteria, yeast, and other microbial systems, with comparative host advantages. Engineering strategies include synthetic circuits, quorum sensing, and memory.
Cemile Elif Özçelik +3 more
wiley +1 more source
Lymphatic Edema in Congenital Disorders of Glycosylation [PDF]
, 2011 Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine ...
Ruud Hj, Verstegen +3 more
openaire +2 more sources
A Study on Glycosylation pattern of Serum Transferrin in patients with clinically suspected Congenital Glycosylation disorders [PDF]
, 2017 INTRODUCTION: Congenital disorder of glycosylation (CDG) is an inborn error of metabolism due to defective glycosylation of glycoproteins/glycolipids. It is a multisystem disorder with wide range of clinical presentations.
Preethi, A
core
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation [PDF]
, 2001 The congenital disorders of glycosylation (CDGs) are progressive multisystemic disorders characterized by a heterogeneous deficiency of the carbohydrate moieties in various structural and circulating glycoproteins, representing a natural model for ...
G. Radetti +5 more
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