Drug Discovery Today: Disease Models 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Cell and tissue models of alkaptonuria
Publication date: Available online 25 January 2020Source: Drug Discovery Today: Disease ModelsAuthor(s): Daniela Braconi, Lia Millucci, Ottavia Spiga, Annalisa SantucciAlkaptonuria (AKU) is a rare metabolic disease of historical and medical interest. Despite the identification of gene and protein defects leading to the accumulation of homogentisic acid (HGA), little is known on how HGA is transformed into an ochronotic pigment (the hallmark of the disease) leading to a range of clinical manifestations. Major obstacles in tackling the pathological features of AKU are the rarity of biological samples, the invasiveness of sam...
Source: Drug Discovery Today: Disease Models - January 25, 2020 Category: Drugs & Pharmacology Source Type: research
The complexity of Rett syndrome models: Primary fibroblasts as a disease-in-a-dish reliable approach
Publication date: Available online 19 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Valeria Cordone, Alessandra Pecorelli, Fernanda Amicarelli, Joussef Hayek, Giuseppe ValacchiRett syndrome (RTT) is a progressive neurodevelopmental disease, which affects almost exclusively the female gender (prevalence of about 1:10,000). RTT symptoms are usually characterized by loss of purposeful hand skills, mental retardation and motor impairment, resulting in a plethora of other systemic co-morbidities. Mutations in the methyl-CpG binding protein 2 gene (MECP2) are the main genetic cause of the disorder, however ...
Source: Drug Discovery Today: Disease Models - December 21, 2019 Category: Drugs & Pharmacology Source Type: research
In vitro models of HIV-1 infection of the central nervous system
Publication date: Available online 20 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Celeste Faia, Karlie Plaisance-Bonstaff, Francesca PeruzziNeurocognitive disorders associated with HIV-1 infection affect more than half of persons living with HIV (PLWH) under retroviral therapy. Understanding the molecular mechanisms and the complex cellular network communication underlying neurological dysfunction is critical for the development of an effective therapy. As with other neurological disorders, challenges to studying HIV infection of the brain include limited access to clinical samples and proper reprod...
Source: Drug Discovery Today: Disease Models - December 21, 2019 Category: Drugs & Pharmacology Source Type: research
Do herpesviruses play a role in Alzheimer’s disease pathogenesis?
Publication date: Available online 18 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Mary Alice Allnutt, Steven JacobsonRecent studies have brought renewed interest to the hypothesis that infection plays a role in the pathogenesis of Alzheimer’s disease (AD). In particular, herpesviruses such as herpes simplex virus-1 (HSV-1) and human herpesvirus-6 (HHV-6) have had an extensive history of association with AD. The interplay between viral infection and a variety of neurological diseases has long been an area of interest but proving causality has been elusive. Two recent studies, Readhead et al. (2018)...
Source: Drug Discovery Today: Disease Models - December 18, 2019 Category: Drugs & Pharmacology Source Type: research
Disease models in cerebral cavernous malformations
Publication date: Available online 9 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Angela J. Glading, Federica Finetti, Lorenza TrabalziniCerebral cavernous malformation (CCM) is a rare disease of genetic origin characterized by dilated and leaky capillaries occurring mainly in the central nervous system. CCM can arise sporadically or may be inherited as an autosomal dominant condition with incomplete penetrance and variable clinical expressivity. The sporadic form accounts for up to 80% of cases, whereas the familial form accounts for at least 20% of cases. Genetic studies have identified three genes...
Source: Drug Discovery Today: Disease Models - December 10, 2019 Category: Drugs & Pharmacology Source Type: research
Chediak-Higashi syndrome: A review of the past, present, and future
Publication date: Available online 9 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Prashant Sharma, Elena-Raluca Nicoli, Jenny Serra-Vinardell, Marie Morimoto, Camilo Toro, May Christine V. Malicdan, Wendy J. IntroneSince the initial description of Chediak-Higashi syndrome (CHS), over 75 years ago, several studies have been conducted to underscore the role of the lysosomal trafficking regulator (LYST) gene in the pathogenesis of disease. CHS is a rare autosomal recessive disorder, which is caused by biallelic mutations in the highly conserved LYST gene. The disease is characterized by partial oculocut...
Source: Drug Discovery Today: Disease Models - December 10, 2019 Category: Drugs & Pharmacology Source Type: research
Animal and cell models for Lesch-Nyhan syndrome
Publication date: Available online 7 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Vanna Micheli, Gabriella Jacomelli, Annalisa Santucci, Giulia BernardiniLesch–Nyhan Disease (LND) is a rare X-linked recessive metabolic and neurological syndrome due to the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). Peculiar neurological symptoms occur in LND: dystonia, choreoathetosis, compulsive self-injurious behaviour, with no obvious correlation to the deficiency of this purine salvage anzyme. A dopaminergic deficit was found to underlie the neurologic symptoms, but the aetiology for su...
Source: Drug Discovery Today: Disease Models - December 7, 2019 Category: Drugs & Pharmacology Source Type: research
The contribution of mouse models in the rare disease alkaptonuria
Publication date: Available online 5 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Juliette H. Hughes, George Bou-Gharios, Lakshminarayan R. Ranganath, James A. GallagherAlkaptonuria is an ultra-rare autosomal recessive disorder of tyrosine metabolism, whereby the homogentisate 1,2-dioxygenase (HGD) enzyme is deficient, causing an elevation of its substrate homogentisic acid (HGA). Overtime, elevated HGA causes connective tissue ochronosis, leading to a severe and early onset osteoarthropathy. The use of HGD deficient mouse models in this metabolic bone disease have provided the opportunity to investi...
Source: Drug Discovery Today: Disease Models - December 5, 2019 Category: Drugs & Pharmacology Source Type: research
Quantitative morphology of the lung and its importance in investigations of pulmonary diseases in mice
Publication date: Available online 28 November 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Wilfried KleinThe morphology of the mouse respiratory system has been studied in several different models of respiratory diseases, but quantitative morphological methods such as stereology are still only employed sporadically. This review discusses the use of stereology as a tool to understand the morphology of the mouse respiratory system and its link to the study of pulmonary mechanics. An integrated approach to study lung function in mice is being proposed, by combining non-invasive and invasive methods to analyze p...
Source: Drug Discovery Today: Disease Models - November 29, 2019 Category: Drugs & Pharmacology Source Type: research
Animal Models for Microbiome Research and Drug Discovery
Publication date: Summer 2018Source: Drug Discovery Today: Disease Models, Volume 28Author(s): Philip J. Richter, Pieter C. Dorrestein, Rob Knight (Source: Drug Discovery Today: Disease Models)
Source: Drug Discovery Today: Disease Models - November 27, 2019 Category: Drugs & Pharmacology Source Type: research
Diaphragm muscle adaptations in health and disease
Publication date: Available online 27 November 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Matthew J. Fogarty, Gary C. SieckBreathing is achieved without thought despite being controlled by a complex neural network. The diaphragm is the predominant muscle responsible for force/pressure generation during breathing, but it is also involved in other non-ventilatory expulsive behaviors. This review considers alterations in diaphragm muscle fiber types and the neural control of the diaphragm across our lifespan and in various disease conditions. (Source: Drug Discovery Today: Disease Models)
Source: Drug Discovery Today: Disease Models - November 27, 2019 Category: Drugs & Pharmacology Source Type: research
Editorial to “Lung mechanics”
Publication date: Available online 3 November 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Wilfried Klein (Source: Drug Discovery Today: Disease Models)
Source: Drug Discovery Today: Disease Models - November 4, 2019 Category: Drugs & Pharmacology Source Type: research
Analysis of respiratory mechanics in animal models: Its use in understanding lung behavior in emphysema and asthma
Publication date: Available online 29 October 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Paolo José Cesare Biselli, Julia Benini Kohler, Renato Righetti, Iolanda de Fátima Lopes Calvo Tibério, Mílton de Arruda Martins, Fernanda Degobbi Tenorio Quirino dos Santos LopesRespiratory mechanics assessment in animal models of respiratory diseases is considered a reliable tool to understand how structural changes impact lung function. Mathematical models, such as the equation of motion and the constant-phase model are used to describe the properties of the respiratory system. The equation of motion is valued be...
Source: Drug Discovery Today: Disease Models - October 30, 2019 Category: Drugs & Pharmacology Source Type: research
Wildlife-microbiome interactions and disease: exploring opportunities for disease mitigation across ecological scales
Publication date: Available online 4 October 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Candace L. Williams, Andrés Mauricio Caraballo-Rodríguez, Celeste Allaband, Amir Zarrinpar, Rob Knight, Julia M. GauglitzCaptive wildlife are a unique set of animals, whose diverse host–microbe symbioses are underexplored. Compared to their wild counterparts they are particularly susceptible to a variety of diseases, many of which have explicit or purported links to the microbiome. In this perspective, we will examine how the microbiome influences gastrointestinal disorders, metabolic dysregulation, reproduction, and...
Source: Drug Discovery Today: Disease Models - October 5, 2019 Category: Drugs & Pharmacology Source Type: research
Animal models for understanding microbial decomposition of human remains
Publication date: Available online 30 September 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Aeriel D. Belk, Heather L. Deel, Zachary M. Burcham, Rob Knight, David O. Carter, Jessica L. MetcalfAnimal models are critical for forensic science research, particularly in studies of decomposition. This review examines the studies that have led to the development of using microbiome tools to predict the time since death, or postmortem interval (PMI), of human remains. Estimating PMI is crucial for forensic investigations, and most traditional tools are no longer effective after the first few days postmortem. The dev...
Source: Drug Discovery Today: Disease Models - October 2, 2019 Category: Drugs & Pharmacology Source Type: research
