Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

• Other Authors: Condò, Ivano (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
• Subjects: Medicine; mucopolysaccharidosis II; Hunter syndrome; adeno-associated viruses; genetic therapy; gene editing; review; CDKL5 deficiency disorder; GSK-3β; HDAC6; dual inhibitor; neuronal survival; hippocampal defects; synapse development; TMEM16A; ADPKD; polycystic kidneys; androgen; estrogen; CFTR; ARPKD; cyst; rare monogenic disease; nephrology; alpha-galactosidase A; Fabry disease; pharmacological chaperones; rare diseases; enzyme replacement therapy; purine metabolism; purinergic signaling; Huntington's disease; multiple endocrine neoplasia type 1 (MEN1); MEN1 gene; loss of heterozygosity (LOH); microRNA (miRNAs); miR-24; hemophilia; advanced therapies; gene therapy; FVIII transgene; FIX transgene; adeno-associated virus; lentiviral vectors; FXTAS; FXPOI; FXAND; premutation; blood; biomarker; FMR1; FMRP; endocrine; mitochondria; miRNA; transcription; GABA; telomere; factor V deficiency; parahemophilia; Owren's disease; mutation analysis; Bartter syndrome; Gitelman syndrome; genetics; genetic diagnosis; therapeutic targets; hyponatremia; hypokalemia; hypercalciuria; hypomagnesemia; β-thalassemia; fetal hemoglobin; γ-globin; HbF induction; K562 cells; Cinchona alkaloids; cinchonidine; quinidine; cinchonine; combined treatments; n/a
• Online Access: DOAB: download the publication; DOAB: description of the publication

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.