Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

Contributors: Condò, Ivano

Subject Terms: 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, Medicine and Nursing

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Access URL: https://directory.doabooks.org/handle/20.500.12854/100126
https://mdpi.com/books/pdfview/book/7220