Results 51 to 60 of about 2,244,731 (317)

Learning from errors: effects of teachers training on studentsâ attitudes towards and their individual use of errors [PDF]

open access: yes, 2013
Constructive error handling is considered an important factor for individual learning processes. In a quasi-experimental study with Grades 6 to 9 students, we investigate effects on students’ attitudes towards errors as learning opportunities in two ...
Heinze, Aiso   +3 more
core  

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

open access: yesFEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva   +5 more
wiley   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

open access: yesMolecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood   +11 more
doaj   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

Influence of the Parallel Beam Load Cell installation on the Strain/Stress Field reading error

open access: yesRomanian Journal of Transport Infrastructure, 2023
Parallel beam force transducers are used for the purpose of determining the masses of bodies and are essentially devices that react, both quantitatively and qualitatively, to a specific physical scalar integer (in this case, the mass of the element to be
Stefan Mocanu   +3 more
doaj   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

open access: yesFEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee   +3 more
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

open access: yesScientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López   +2 more
doaj   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

open access: yesCase Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati   +4 more
doaj   +1 more source

A proposed nosology of inborn errors of metabolism [PDF]

open access: yes, 2018
Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. Methods: We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
Ferreira, Carlos R.   +9 more
core   +1 more source

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