164 research outputs found
Towards a better understanding of Vanishing White Matter disease
No full textKnaap, M.S. van der [Promotor]Scheper, G.C. [Copromotor]Thomas, A.A.M. [Copromotor
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: Molecular mechanisms, clinical aspects and opening for treatment
No full textKnaap, M.S. van der [Promotor]Scheper, G.C. [Copromotor
Vanishing white matter: A study of phenotypic variation and the relationship between genotype and phenotype
No full textKnaap, M.S. van der [Promotor]Scheper, G.C. [Copromotor]Abbink, G.E.M. [Copromotor
Defective translation initiation causes vanishing of cerebral white matter
No full textLeukoencephalopathy with vanishing white matter (VWM) is one of the most prevalent inherited white-matter disorders, especially in Caucasian populations. VWM is unusual because of its sensitivity to febrile infections and minor head trauma. The basic defect of this enigmatic brain disease resides in the regulation of initiation of protein synthesis. Recently, undue activation of the unfolded-protein response has emerged as an important factor in the pathophysiology of VWM. Here, we discuss the mechanisms that might be responsible for the selective involvement of the brain white matter in VWM. At present, VWM research is in need of an animal model to study disease mechanisms and therapeutic interventions
A "Queen of Hearts" Trial of Organ Markets: Why Scheper-Hughes's Objections to Markets in Human Organs Fail
No full textNancy Scheper-Hughes is one of the most prominent critics of markets in human organs. Unfortunately, Scheper-Hughes rejects the view that markets should be used to solve the current (and chronic) shortage of transplant organs without engaging with the arguments in favour of them. Scheper-Hughes's rejection of such markets is of especial concern, given her influence over their future, for she holds, among other positions, the status of an adviser to the World Health Organization (Geneva) on issues related to global transplantation. Given her influence, it is important that Scheper-Hughes's moral condemnation of markets in human organs be subject to critical assessment. Such critical assessment, however, has not generally been forthcoming. A careful examination of Scheper-Hughes's anti-market stance shows that it is based on serious mischaracterisations of both the pro-market position and the medical and economic realities that underlie it. In this paper, the author will expose and correct these mischaracterisations and, in so doing, show that her objections to markets in human organs are unfounded
The N and C termini of the splice variants of the human mitogen-activated protein kinase-interacting kinase Mnk2 determine activity and localization
No full textThe cap-binding eukaryotic initiation factor eIF4E is phosphorylated by the mitogen-activated protein
(MAP) kinase-interacting kinases (Mnk’s). Three forms of the Mnk’s exist in human cells: Mnk1, Mnk2a, and
Mnk2b. These last two are derived from the same gene by alternative splicing and differ only at their C termini.
While Mnk2a contains a MAP kinase-binding site in this region, Mnk2b lacks such a sequence and is much
less readily activated by MAP kinases in vitro. Expression of Mnk2b in mammalian cells leads to increased
phosphorylation of eIF4E, showing that it acts as an eIF4E kinase in vivo. While Mnk2a is cytoplasmic, a
substantial amount of Mnk2b is found in the nucleus. Both enzymes contain a stretch of basic residues in their
N termini that plays a role in binding to eIF4G and functions as a nuclear localization signal. Binding of eIF4G
or nuclear import appears to be regulated by the C terminus of Mnk2a. Furthermore, the MAP kinase-binding
site of Mnk2a regulates nuclear entry. Within the nucleus, Mnk2b and certain variants of Mnk2a that are
present in the nucleus colocalize with the promyelocytic leukemia protein PML, which also binds to eIF4E
As fronteiras da pesquisa antropológica: Ética, Autonomia e Tráfico de Órgãos. Um comentário a The Global Traffic in Human Organs, de Nancy Scheper-Hughes Frontiers of anthropological research: Ethics, Autonomy, and Trafficking in Human Organs. A commentary on The Global Traffic in Human Organs, by Nancy Scheper-Hughes
No full textO debate sobre os fundamentos éticos da comercialização de partes do corpo humano cresce a cada dia na bioética. Este artigo discute os princípios da ética e da autonomia contidos no mais importante estudo etnográfico sobre o tráfico internacional de órgãos, trabalho coordenado pela antropóloga Nancy Scheper-Hughes. O artigo mostra que a defesa da ética da não-comercialização exige o reconhecimento de fundamentos absolutos e inalienáveis para o ser humano, um pressuposto político cuja legitimidade os antropólogos relativistas resistem em reconhecer.The bioethical debate over the commercialization of the human body has intensified in recent years. This article discusses the principles of ethics and autonomy in the most important ethnography on international traffic in human organs, coordinated by anthropologist Nancy Scheper-Hughes. The author discusses how defending the ethics of non-commercialization of the human body entails absolute ethical principles pertaining to human life, a political premise whose legitimacy is not recognized by relativist anthropologists
Translation matters: protein synthesis defects in inherited disease
No full textThe list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity. Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition to their roles in translation. Given the numerous proteins involved in mRNA translation, it is likely that further inherited diseases will turn out to be caused by mutations in genes that are involved in this complex process.<br/
CURSES AS A UKRAINIAN CULTURAL TRADITION
No full textCurses constitute a significant part of cultural life of the Ukrainian people. This study aims to analyze curses as a Ukrainian cultural tradition and trace their roots. The author suggests that all curses can be divided at least in three groups: curses which are closely associated with the country’s culture, traditions, customs, history, mythology, superstitions and religion; curses that have no specific cultural root; «tricky» curses used for playful purposes. Almost all curses are context-dependent. The article argues that the major sociocultural functions of curses are pedagogical or didactic, therapeutic and regulative. It is also shown that nowadays curses continue to be used in all spheres of life.ORCID: http://orcid.org/0000-0003-2206-016
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