Results 71 to 80 of about 145,125 (343)

Homologous expression and purification of human HAX‐1 for structural studies

FEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Scientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron, Elise Jeannesson, Marie Canton, Farès Namour, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann   +6 more
doaj   +1 more source

Inborn errors of immunity—recent advances in research on the pathogenesis

Inflammation and Regeneration, 2021
Primary immunodeficiency (PID) is a genetic disorder with a defect of one of the important components of our immune system. Classical PID has been recognized as a disorder with loss of function of the immune system. Recent studies have unveiled disorders
Motoi Yamashita, Kento Inoue, Tsubasa Okano, T. Morio   +3 more
semanticscholar   +1 more source

Structures, inner values, hierarchies and stages: essentials for developmental robot architectures [PDF]

, 2002
In this paper we try to locate the essential components needed for a developmental robot architecture. We take the vocabulary and the main concepts from Piaget’s genetic epistemology and Vygotsky’s activity theory.
Kulakov, Andrea, Stojanov, Georgi
core  

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

DYSTROPHIC EPIDERMOLYSIS BULLOSA: CASE SERIES OF THREE RELATED PATIENTS

Central Asian Journal of Medical Hypotheses and Ethics
Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited skin disorder characterized by blistering, chronic wounds, and scarring due to mutations in the COL7A1 gene. While epidemiological data are available from certain regions, information
Ulpan Zharylkap, Sanimbala Ospanova, Aigerim Idrissova   +2 more
doaj   +1 more source

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj   +1 more source

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes   +13 more
doaj   +1 more source

Understanding Morality in the Religion-and-Science Context [PDF]

, 2012
Recent developments in biotechnology require re/definition of human \"being.\" In this paper, the author suggests that the term \"human being \" is substituted with \"human betweenness.\" This substitution emerges from a philosophical/theological reading
Park, Iljoon
core   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source