Explore
Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies
Ivano Condò (editor)
2023
0 Ungluers have
Faved this Work
Login to Fave
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.
This book is included in DOAB.
Why read this book? Have your say.
You must be logged in to comment.
Rights Information
Are you the author or publisher of this work? If so, you can claim it as yours by registering as an Unglue.it rights holder.Downloads
This work has been downloaded 15 times via unglue.it ebook links.
- 15 - pdf (CC BY) at Unglue.it.
Keywords
- adeno-associated virus
- adeno-associated viruses
- ADPKD
- advanced therapies
- alpha-galactosidase A
- androgen
- ARPKD
- Bartter syndrome
- biomarker
- Blood
- CDKL5 deficiency disorder
- CFTR
- Cinchona alkaloids
- cinchonidine
- cinchonine
- combined treatments
- cyst
- dual inhibitor
- endocrine
- enzyme replacement therapy
- estrogen
- Fabry disease
- factor V deficiency
- fetal hemoglobin
- FIX transgene
- FMR1
- FMRP
- FVIII transgene
- FXAND
- FXPOI
- FXTAS
- GABA
- Gene editing
- Gene Therapy
- genetic diagnosis
- genetic therapy
- Genetics
- Gitelman syndrome
- GSK-3β
- HbF induction
- HDAC6
- hemophilia
- hippocampal defects
- Hunter syndrome
- Huntington’s disease
- hypercalciuria
- hypokalemia
- hypomagnesemia
- hyponatremia
- K562 cells
- lentiviral vectors
- loss of heterozygosity (LOH)
- medicine
- MEN1 gene
- microRNA (miRNAs)
- miR-24
- miRNA
- Mitochondria
- mucopolysaccharidosis II
- multiple endocrine neoplasia type 1 (MEN1)
- mutation analysis
- n/a
- Nephrology
- neuronal survival
- Owren’s disease
- parahemophilia
- pharmacological chaperones
- polycystic kidneys
- premutation
- purine metabolism
- purinergic signaling
- quinidine
- rare diseases
- rare monogenic disease
- review
- synapse development
- Telomere
- therapeutic targets
- TMEM16A
- transcription
- β-thalassemia
- γ-globin
Links
DOI: 10.3390/books978-3-0365-7460-8Editions