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Recent advances in IPSC disease modeling. Volume 1 /
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London, United Kingdom :
Academic Press,
2020.
|
| Colección: | Advances in stem cell biology.
|
| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- Front Cover
- Recent Advances in iPSC Disease Modeling, Volume 1
- Recent Advances in iPSC Disease Modeling, Volume 1
- Copyright
- Dedication
- Contents
- Contributors
- About the Editor
- Preface
- 1
- iPSCs for modeling lysosomal storage diseases
- Introduction
- Lipid storage disorders
- GM2 gangliosides
- Tay-Sachs disease
- Sandhoff disease
- Other gangliosidoses
- GM1 gangliosidosis
- Sphingolipidosis
- Niemann-Pick disease
- Metachromatic leukodystrophy
- Gaucher disease
- Fabry disease
- Neuronal ceroid lipofuscinoses
- Other lipid storage disorders
- Lysosomal acid lipase deficiency
- Mucopolysaccharidosis
- Lysosomal transport diseases
- Cystinosis
- Glycogenosis type II
- Pompe disease
- Danon disease
- Conclusion and future perspectives
- References
- 2
- Sickle cell anemia: HBB haplotypes
- clinical heterogeneity
- iPSC modeling
- Introduction
- Haplotypes of the HbS gene
- Regulation of gene expression in the HBB gene cluster: hemoglobin switching
- Clinical heterogeneity
- The Arab-Indian haplotype: cis- and trans-acting HbF regulation and clinical phenotypes
- Saudi Benin and Cameroon haplotypes
- Induced pluripotent stem cells and sickle cell anemia
- Conclusions
- References
- 3
- iPSCs for modeling mtDNA diseases
- Introduction
- mtDNA diseases
- Clinical pathologies of mtDNA diseases
- MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
- MERRF (Myoclonic epilepsy with ragged red fibers)
- MIDD (Maternally inherited diabetes and deafness)
- NARP (Neuropathy, ataxia and retinitis pigmentosa)
- Leigh syndrome
- LHON (Leber hereditary optic neuropathy)
- KSS (Kearns-Sayre syndrome)
- CPEO (Chronic progressive external ophthalmoplegia) and PEO (Progressive external ophthalmoplegia)
- Pearson syndrome
- Heteroplasmy
- Model systems for mtDNA disease
- Advantages and limitations of iPSCs in evaluating mtDNA diseases
- iPSC models for mtDNA diseases
- Dynamics of the mtDNA mutation during reprogramming and in the iPSCs
- Mechanistic studies on iPSCs from MELAS patients
- Studies with iPSCs from mtDNA disease patients with neurological disease
- Studies with iPSCs from mtDNA disease patients with cardiac disease
- Studies with other cell types