Results 61 to 70 of about 3,871 (190)
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
First-Principles Phase Stability Calculations of Pseudobinary Alloys of (Al,Zn)3Ti with L12, D022, and D023 Structures [PDF]
, 2007 The thermodynamic and mechanical stability of intermetallic phases in the Al3Ti-Zn3Ti pseudobinary alloy system is investigated from first-principles total energy calculations through electronic density-functional theory within the generalized gradient ...
Asta, Mark +2 more
core +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
, 2001 A {\it cluster of cycles} (or {\it $(r,q)$-polycycle}) is a simple planar 2--co nnected finite or countable graph $G$ of girth $r$ and maximal vertex-degree $q$, which admits {\it $(r,q)$-polycyclic realization} on the plane, denote it by $P(G)$, i.e ...
Archdeacon +15 more
core +2 more sources
Anomalous thermal expansion in 1D transition-metal cyanides: what makes the novel trimetallic cyanide Cu1/3Ag1/3Au1/3CN behave differently? [PDF]
, 2019 The structural dynamics of a quasi-one-dimensional (1D) mixed-metal cyanide, Cu1/3Ag1/3Au1/3CN, with intriguing thermal properties is explored. All the current known related compounds with straight-chain structures, such as group 11 cyanides CuCN, AgCN ...
A. Sjölander +9 more
core +2 more sources
, 2005 While electrical compatibility constraints normally prevent head-to-head (HH) and tail-to-tail (TT) domain walls from forming in ferroelectric materials, we propose that such domain walls could be stabilized by intentional growth of atomic layers in ...
David Vanderbilt, G. Kresse, Xifan Wu
core +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