Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

• Tác giả: Condò Ivano
• Ngôn ngữ: eng
• ISBN-13: 978-3036574608
• ISBN-13: 978-3036574615
• ISBN: books978-3-0365-7460-8
• Thông tin xuất bản: Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
• Mô tả vật lý: 1 electronic resource (250 p.)
• Bộ sưu tập: Tài liệu truy cập mở
• ID: 377066
• Chủ đề: 1. adeno-associated viruses; 2. genetic therapy; 3. Hunter syndrome; 4. mucopolysaccharidosis II; 5. Medicine

Tóm tắt

The reprint, "Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies", provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed.