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FUS ALS neurons activate major stress pathways and reduce translation as an early protective mechanism against neurodegeneration

Cell reports (Cambridge), 2023-02, Vol.42 (2), p.112025-112025, Article 112025

2023

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Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1

International journal of molecular sciences, 2021-01, Vol.22 (2), p.710

2021

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Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease

International journal of molecular sciences, 2021-11, Vol.22 (22), p.12184

2021

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Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T

International journal of molecular sciences, 2021-04, Vol.22 (8), p.4009

2021

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Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts

Stem cell research, 2023-09, Vol.71, p.103178-103178, Article 103178

2023

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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

Molecular and cellular neuroscience, 2017-09, Vol.83, p.27-36

2017

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Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons

Brain research, 2017-02, Vol.1657, p.52-61

2017

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Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice

Scientific reports, 2018-02, Vol.8 (1), p.3318-9, Article 3318

2018

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Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.145-145, Article 145

2017

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Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C

Cells (Basel, Switzerland), 2022-02, Vol.11 (3), p.507

2022

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Oxidative Stress and Alterations in the Antioxidative Defense System in Neuronal Cells Derived from NPC1 Patient-Specific Induced Pluripotent Stem Cells

International journal of molecular sciences, 2020-10, Vol.21 (20), p.7667

2020

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Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann–Pick Type C1 mice

Neuroscience, 2013-11, Vol.252, p.201-211

2013

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Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg

Stem cell research, 2022-08, Vol.63, p.102863-102863, Article 102863

2022

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Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells

Neuroscience letters, 2011-01, Vol.488 (1), p.36-40

2011

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Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells

Biomedical engineering online, 2010-11, Vol.9 (1), p.70-70, Article 70

2010

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Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems

Cells (Basel, Switzerland), 2022-01, Vol.11 (3), p.319

2022

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Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.144-144, Article 144

2013

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Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system

Stem cell research, 2020-12, Vol.49, p.102056-102056, Article 102056

2020

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Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4502

2020

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Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual

Stem cell research, 2021-01, Vol.50, p.102127-102127, Article 102127

2021

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Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A)

Stem cell research, 2020-12, Vol.49, p.102079-102079, Article 102079

2020

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Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

International journal of molecular sciences, 2019-10, Vol.20 (20), p.5185

2019

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Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease

Stem cell research, 2020-03, Vol.43, p.101708-101708, Article 101708

2020

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Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Stem cell research, 2019-12, Vol.41, p.101606-101606, Article 101606

2019

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Small molecules in stem cell research

Current pharmaceutical biotechnology, 2013, Vol.14 (1), p.36-45

2013

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FUS ALS neurons activate major stress pathways and reduce translation as an early protective mechanism against neurodegeneration

Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1

Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease

Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T

Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts

Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors

Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons

Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice

Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis

Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C

Oxidative Stress and Alterations in the Antioxidative Defense System in Neuronal Cells Derived from NPC1 Patient-Specific Induced Pluripotent Stem Cells

Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann–Pick Type C1 mice

Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg

Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells

Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells

Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual

Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A)

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease

Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Small molecules in stem cell research

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