Reprint

Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

Edited by
April 2023
250 pages
  • ISBN978-3-0365-7461-5 (Hardback)
  • ISBN978-3-0365-7460-8 (PDF)

This book is a reprint of the Special Issue Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies that was published in

Biology & Life Sciences
Chemistry & Materials Science
Medicine & Pharmacology
Summary

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.

Format
  • Hardback
License
© by the authors
Keywords
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; advanced therapies; 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