| Description |
1 online resource |
| Series |
Advances in stem cell biology |
|
Advances in stem cell biology.
|
| Contents |
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 |
| Notes |
Includes index |
| Subject |
Stem cells.
|
|
Stem Cells
|
|
Stem cells
|
| Genre/Form |
Electronic books
|
| Form |
Electronic book
|
| Author |
Birbrair, Alexander.
|
| ISBN |
9780128232699 |
|
0128232692 |
|
