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

Autor: Christin Völkner, Maik Liedtke, Janine Petters, Katharina Huth, Gudrun Knuebel, Hugo Murua Escobar, Jörn Bullerdiek, Jan Lukas, Andreas Hermann, Moritz J. Frech

Publikováno v: Stem Cell Research, Vol 49, Iss , Pp 102056- (2020)

Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids. NPC1-patients present

Externí odkaz: https://doaj.org/article/d99d3150ea374e94995b0502099a7fdc

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

Autor: Christin Völkner, Supansa Pantoom, Maik Liedtke, Jan Lukas, Andreas Hermann, Moritz J. Frech

Publikováno v: Cells, Vol 11, Iss 3, p 319 (2022)

Niemann-Pick type C1 (NP-C1) is a fatal, progressive neurodegenerative disease caused by mutations in the NPC1 gene. Mutations of NPC1 can result in a misfolded protein that is subsequently marked for proteasomal degradation. Such loss-of-function mu

Externí odkaz: https://doaj.org/article/51bdb449442346e49a09bdb92b73f800

Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the 'Variant' Biochemical Phenotype of Niemann-Pick Type C1 Disease

Autor: Christin Völkner, Maik Liedtke, Robert Untucht, Andreas Hermann, Moritz J. Frech

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 22, p 12184 (2021)

Niemann–Pick disease type C1 (NP-C1) is a rare lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 gene. Patients display a wide spectrum on the clinical as well as on the molecular level, wherein a so-called “variant�

Externí odkaz: https://doaj.org/article/b7de588aa0844736a49b3bfb7d12ad88

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

Autor: Christin Völkner, Maik Liedtke, Andreas Hermann, Moritz J. Frech

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 2, p 710 (2021)

The lysosomal storage disorders Niemann-Pick disease Type C1 (NPC1) and Type C2 (NPC2) are rare diseases caused by mutations in the NPC1 or NPC2 gene. Both NPC1 and NPC2 are proteins responsible for the exit of cholesterol from late endosomes and lys

Externí odkaz: https://doaj.org/article/e30bf01669e44bf4a3d881e74e0dbe47

Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the 'Variant' Biochemical Phenotype of Niemann-Pick Type C1 Disease

Autor: Maik Liedtke, Moritz J. Frech, Christin Völkner, Robert Untucht, Andreas Hermann

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 12184, p 12184 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 22
International journal of molecular sciences 22(22), 12184 (2021). doi:10.3390/ijms222212184

Niemann–Pick disease type C1 (NP-C1) is a rare lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 gene. Patients display a wide spectrum on the clinical as well as on the molecular level, wherein a so-called “variant�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef971280353acf1124196b718ed127b
https://www.mdpi.com/1422-0067/22/22/12184