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Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. 2017, Int J Cardiol, 232, 255-263, PubMed ID: 28082092
S. J. Chou, W. C. Yu, Y. L. Chang, W. Y. Chen, W. C. Chang, Y. Chien, J. C. Yen, Y. Y. Liu, S. J. Chen, C. Y. Wang, Y. H. Chen, D. M. Niu, S. J. Lin, J. W. Chen, S. H. Chiou and H. B. Leu
Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells. 2017, Cell Transplant, 26, 513-527, PubMed ID: 27938475
W. L. Tseng, S. J. Chou, H. C. Chiang, M. L. Wang, C. S. Chien, K. H. Chen, H. B. Leu, C. Y. Wang, Y. L. Chang, Y. Y. Liu, Y. J. Jong, S. Z. Lin, S. H. Chiou, S. J. Lin and W. C. Yu
Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation. 2016, Oncotarget, 7, 87161-87179, PubMed ID: 27888626
Y. Chien, C. S. Chien, H. C. Chiang, W. L. Huang, S. J. Chou, W. C. Chang, Y. L. Chang, H. B. Leu, K. H. Chen, K. L. Wang, Y. H. Lai, Y. Y. Liu, K. H. Lu, H. Y. Li, Y. J. Sung, Y. J. Jong, Y. J. Chen, C. H. Chen and W. C. Yu
Human-induced pluripotent stem cell approaches to model inborn and acquired metabolic heart diseases. 2016, Curr Opin Cardiol, 31, 266-74, PubMed ID: 27022891
A. M. Chanana, J. W. Rhee and J. C. Wu
Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease. 2014, J Inherit Metab Dis, 37, 1013-22, PubMed ID: 24850378
J. M. Itier, G. Ret, S. Viale, L. Sweet, D. Bangari, A. Caron, F. Le-Gall, B. Benichou, J. Leonard, J. F. Deleuze and C. Orsini
Induced Pluripotent Stem Cell Modeling of Gaucher’s Disease: What Have We Learned? 2017, Int J Mol Sci, 18, PubMed ID: 28430167
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A New Glucocerebrosidase Chaperone Reduces alpha-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism. 2016, J Neurosci, 36, 7441-52, PubMed ID: 27413154
E. Aflaki, D. K. Borger, N. Moaven, B. K. Stubblefield, S. A. Rogers, S. Patnaik, F. J. Schoenen, W. Westbroek, W. Zheng, P. Sullivan, H. Fujiwara, R. Sidhu, Z. M. Khaliq, G. J. Lopez, D. S. Goldstein, D. S. Ory, J. Marugan and E. Sidransky
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis. 2015, Stem Cells Transl Med, 4, 878-86, PubMed ID: 26062980
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Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology. 2015, PLoS One, 10, e0118771, PubMed ID: 25822147
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Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development. 2014, Stem Cells, 32, 2338-49, PubMed ID: 24801745
L. M. Panicker, D. Miller, O. Awad, V. Bose, Y. Lun, T. S. Park, E. T. Zambidis, J. A. Sgambato and R. A. Feldman
Neuronopathic Gaucher’s disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. 2013, Hum Mol Genet, 22, 633-45, PubMed ID: 23118351
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Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II. 2018, J Inherit Metab Dis, 41, 221-229, PubMed ID: 29168031
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Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder. 2016, Stem Cell Res, 17, 514-516, PubMed ID: 27789401
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Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation. 2016, Stem Cell Res, 17, 482-484, PubMed ID: 27789399
E. Varga, C. Nemes, I. Bock, N. Varga, A. Feher, A. Dinnyes and J. Kobolak
Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 3-year-old male with pathogenic IDS mutation. 2016, Stem Cell Res, 17, 479-481, PubMed ID: 27789398
E. Varga, C. Nemes, I. Bock, N. Varga, A. Feher, J. Kobolak and A. Dinnyes
Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation. 2016, Stem Cell Res, 17, 463-465, PubMed ID: 27789394
E. Varga, C. Nemes, I. Bock, N. Varga, A. Feher, J. Kobolak and A. Dinnyes
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female. 2016, Folia Biol (Praha), 62, 82-9, PubMed ID: 27187040
M. Reboun, J. Rybova, R. Dobrovolny, J. Vcelak, T. Veselkova, G. Storkanova, D. Musalkova, M. Hrebicek, J. Ledvinova, M. Magner, J. Zeman, K. Peskova and L. Dvorakova
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. 2017, Stem Cells Transl Med, 6, 352-368, PubMed ID: 28191778
V. Meneghini, G. Frati, D. Sala, S. De Cicco, M. Luciani, C. Cavazzin, M. Paulis, W. Mentzen, F. Morena, S. Giannelli, F. Sanvito, A. Villa, A. Bulfone, V. Broccoli, S. Martino and A. Gritti
Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy. 2015, Mol Ther, 23, 1519-31, PubMed ID: 26061647
J. Doerr, A. Bockenhoff, B. Ewald, J. Ladewig, M. Eckhardt, V. Gieselmann, U. Matzner, O. Brustle and P. Koch
Application of human mesenchymal and pluripotent stem cell microcarrier cultures in cellular therapy: achievements and future direction. 2013, Biotechnol Adv, 31, 1032-46, PubMed ID: 23531528
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Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy. 2006, Gene Ther, 13, 1686-95, PubMed ID: 16871228
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Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. 2015, Stem Cell Reports, 5, 546-57, PubMed ID: 26411903
I. Canals, J. Soriano, J. G. Orlandi, R. Torrent, Y. Richaud-Patin, S. Jimenez-Delgado, S. Merlin, A. Follenzi, A. Consiglio, L. Vilageliu, D. Grinberg and A. Raya
Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology. 2015, J Mol Biol, 427, 775-91, PubMed ID: 25268803
J. Bruyere, E. Roy, J. Ausseil, T. Lemonnier, G. Teyre, D. Bohl, S. Etienne-Manneville, H. Lortat-Jacob, J. M. Heard and S. Vitry
Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts. 2017, Oncotarget, 8, 85428-85441, PubMed ID: 29156730
E. A. Sung, K. R. Yu, J. H. Shin, Y. Seo, H. S. Kim, M. G. Koog, I. Kang, J. J. Kim, B. C. Lee, T. H. Shin, J. Y. Lee, S. Lee, T. W. Kang, S. W. Choi and K. S. Kang
Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis. 2017, Orphanet J Rare Dis, 12, 145, PubMed ID: 28841900
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Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors. 2017, Mol Cell Neurosci, 83, 27-36, PubMed ID: 28666962
M. Rabenstein, F. Peter, S. Joost, M. Trilck, A. Rolfs and M. J. Frech
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation – Analysis of pluripotency and neuronal differentiation. 2017, Data Brief, 12, 123-131, PubMed ID: 28413817
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Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons. 2017, Brain Res, 1657, 52-61, PubMed ID: 27923633
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Telocytes: a potential defender in the spleen of Npc1 mutant mice. 2017, J Cell Mol Med, 21, 848-859, PubMed ID: 27860245
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Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells. 2017, Brain Res, 1656, 63-67, PubMed ID: 26972536
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Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A. 2016, Stem Cells Transl Med, 5, 1644-1655, PubMed ID: 27484861
Y. Long, M. Xu, R. Li, S. Dai, J. Beers, G. Chen, F. Soheilian, U. Baxa, M. Wang, J. J. Marugan, S. Muro, Z. Li, R. Brady and W. Zheng
Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease. 2016, Am J Pathol, 186, 517-23, PubMed ID: 26784526
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Generation and Neuronal Differentiation of Patient-Specific Induced Pluripotent Stem Cells Derived from Niemann-Pick Type C1 Fibroblasts. 2016, Methods Mol Biol, 1353, 233-59, PubMed ID: 25520288
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Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics. 2015, Proc Natl Acad Sci U S A, 112, E4281-7, PubMed ID: 26195741
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Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling. 2015, Stem Cells Transl Med, 4, 230-8, PubMed ID: 25637190
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HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cells. 2015, Stem Cells, 33, 1075-88, PubMed ID: 25522247
M. Soga, Y. Ishitsuka, M. Hamasaki, K. Yoneda, H. Furuya, M. Matsuo, H. Ihn, N. Fusaki, K. Nakamura, N. Nakagata, F. Endo, T. Irie and T. Era
Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons. 2014, Nat Commun, 5, 5514, PubMed ID: 25417698
H. Lee, J. K. Lee, M. H. Park, Y. R. Hong, H. H. Marti, H. Kim, Y. Okada, M. Otsu, E. J. Seo, J. H. Park, J. H. Bae, N. Okino, X. He, E. H. Schuchman, J. S. Bae and H. K. Jin
Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells. 2014, Stem Cell Reports, 2, 866-80, PubMed ID: 24936472
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Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy. 2014, J Biomol Screen, 19, 1164-73, PubMed ID: 24907126
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Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks. 2013, Orphanet J Rare Dis, 8, 144, PubMed ID: 24044630
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Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. 2018, J Lipid Res, 59, 550-563, PubMed ID: 29358305
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Induced Pluripotent Stem Cell Technology: A Paradigm Shift in Medical Science for Drug Screening and Disease Modeling. 2017, Curr Med Chem, 24, 4368-4398, PubMed ID: 28748763
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Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. 2016, Stem Cell Res, 17, 289-291, PubMed ID: 27879213
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Modeling and rescue of defective blood-brain barrier function of induced brain microvascular endothelial cells from childhood cerebral adrenoleukodystrophy patients. 2018, Fluids Barriers CNS, 15, 9, PubMed ID: 29615068
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Generation of induced pluripotent stem cell (iPSC) line from a 21-year-old X-linked adrenoleukodystrophy (X-ALD) patient. 2017, Stem Cell Res, 25, 136-138, PubMed ID: 29128817
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Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy. 2016, Stem Cell Res, 17, 634-636, PubMed ID: 27934597
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Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy. 2015, PLoS One, 10, e0143238, PubMed ID: 26581106
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Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients. 2011, Ann Neurol, 70, 402-9, PubMed ID: 21721033
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Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene. 2016, Stem Cell Res, 16, 124-7, PubMed ID: 27345796
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Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells. 2016, Aging (Albany NY), 8, 945-57, PubMed ID: 27127184
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iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons. 2016, J Cell Physiol, 231, 2317-8, PubMed ID: 27018482
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Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics. 2016, Stem Cells, 34, 801-8, PubMed ID: 26850516
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Mitochondrial resetting and metabolic reprogramming in induced pluripotent stem cells and mitochondrial disease modeling. 2016, Biochim Biophys Acta, 1860, 686-93, PubMed ID: 26779594
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In vitro modelling of familial amyloidotic polyneuropathy allows quantitative detection of transthyretin amyloid fibril-like structures in hepatic derivatives of patient-specific induced pluripotent stem cells. 2017, Biol Chem, 398, 939-954, PubMed ID: 28051995
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Involvement of Macrophages in the Pathogenesis of Familial Amyloid Polyneuropathy and Efficacy of Human iPS Cell-Derived Macrophages in Its Treatment. 2016, PLoS One, 11, e0163944, PubMed ID: 27695122
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Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells. 2016, PLoS One, 11, e0161455, PubMed ID: 27584576
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Multisystemic Disease Modeling of Liver-Derived Protein Folding Disorders Using Induced Pluripotent Stem Cells (iPSCs). 2016, Methods Mol Biol, 1353, 261-70, PubMed ID: 25646614
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Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient. 2013, Genes Cells, 18, 1053-69, PubMed ID: 24581426
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A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. 2017, Sci Rep, 7, 13473, PubMed ID: 29044175
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Using human-induced pluripotent stem cells to model monogenic metabolic disorders of the liver. 2012, Semin Liver Dis, 32, 298-306, PubMed ID: 23397530
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