Updates on Peroxisomal Disorders: Development of Targeted Therapies
A special issue of Cells (ISSN 2073-4409).
Deadline for manuscript submissions: 1 July 2024 | Viewed by 172
Special Issue Editors
Interests: peroxisomal disorders; gene therapy; gene editing; small-molecule screening; stem cell biology
Special Issues, Collections and Topics in MDPI journals
2. Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
Interests: inherited neurometabolic disorders; peroxisome biogenesis disorders; single peroxisomal enzyme deficiencies; targeted therapies
Interests: genetic disorders; peroxisome diseases; mouse models; drug therapies; lipid metabolism
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue aims to provide an innovative forum through which to discuss emerging therapies of possible relevance to the treatment of inherited peroxisomal disorders. Peroxisomes are metabolic organelles that act as a central hub of cell signaling pathways and play essential roles in the functions and development of mammalian organ systems. Currently, there is an expanding understanding of genetic disorders caused by impaired peroxisome assembly and/or downstream functions. These include peroxisome biogenesis disorders (PBDs) such as Zellweger spectrum disorder (ZSD) and rhizomelic chondrodysplasia punctata (RCDP), which affect numerous peroxisome functions and induce peroxisomal single-protein deficiencies (e.g., adrenoleukodystrophy (ALD), adult Refsum disease (ARD), ACOX1 deficiency, D-bifunctional protein deficiency) that impair specific peroxisomal metabolic activities. In addition, the role of gain-of-function pathogenic variants in peroxisomal disorders is becoming increasingly clear.
Here, our overall goal is to accelerate the process of developing roadmaps for the therapeutic development for peroxisomal disorders by engaging in a critical evaluation of therapeutic modalities including gene-, small-molecule-, oligonucleotide-, and cell-based therapies. We will place a emphasis on discussions of the research infrastructure required for the development and eventually testing of these therapies in the clinical setting. This includes cell-based and animal models of disease, clinical biomarkers, therapeutic windows, and clinical endpoints. Moreover, we will highlight fundamental gaps in the scientific knowledge base that need to be bridged to develop more effective rational therapeutic interventions for peroxisomal disorders.
Dr. Joseph G. Hacia
Dr. Femke C. C. Klouwer
Dr. Nancy Braverman
Guest Editors
Manuscript Submission Information
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Keywords
- peroxisomes
- peroxisomal disorders
- gene therapy
- small-molecule therapies
- stem cell transplantation
- animal models
Related Special Issue
- Peroxisomal Disorders: Development of Targeted Therapies in Cells (7 articles)
