13 research outputs found
Why Are Male Social Relationships Complex in the Doubtful Sound Bottlenose Dolphin Population?
Copyright 2008 Elsevier B.V., All rights reserved.Peer reviewedPublisher PD
Diamond Blackfan anemia: a model for the translational approach to understanding human disease
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these disorders provides important insights into basic biology and, in the case of DBA, ribosome biology; the disruption of which characterizes the disorder. Thus DBA serves as a paradigm for translational medicine in which the efforts of clinicians to manage DBA have informed laboratory scientists who, in turn, have stimulated clinical researchers to utilize scientific discovery to provide improved care. In this review we describe the clinical syndrome Diamond Blackfan anemia and, in particular, we demonstrate how the study of DBA has allowed scientific inquiry to create opportunities for progress in its understanding and treatment
Diamond Blackfan anemia: a model for the translational approach to understanding human disease
TDP-43 transports ribosomal protein mRNA to regulate axonal local translation in neuronal axons
Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia
Translation matters: protein synthesis defects in inherited disease
The 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/