Frech MJ - Search Results

1

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.

Völkner C, Liedtke M, Untucht R, Hermann A, Frech MJ. Völkner C, et al. Among authors: frech mj. Int J Mol Sci. 2021 Nov 10;22(22):12184. doi: 10.3390/ijms222212184. Int J Mol Sci. 2021. PMID: 34830064 Free PMC article.

2

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

Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J. Feng X, et al. Among authors: frech mj. Int J Mol Sci. 2019 Oct 19;20(20):5185. doi: 10.3390/ijms20205185. Int J Mol Sci. 2019. PMID: 31635081 Free PMC article.

3

Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice.

Rabenstein M, Murr N, Hermann A, Rolfs A, Frech MJ. Rabenstein M, et al. Among authors: frech mj. Int J Mol Sci. 2019 Dec 13;20(24):6288. doi: 10.3390/ijms20246288. Int J Mol Sci. 2019. PMID: 31847086 Free PMC article.

4

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

Gläser A, Hammerl F, Gräler MH, Coldewey SM, Völkner C, Frech MJ, Yang F, Luo J, Tönnies E, von Bohlen Und Halbach O, Brandt N, Heimes D, Neßlauer AM, Korenke GC, Owczarek-Lipska M, Neidhardt J, Rolfs A, Wree A, Witt M, Bräuer AU. Gläser A, et al. Among authors: frech mj. Int J Mol Sci. 2020 Jun 24;21(12):4502. doi: 10.3390/ijms21124502. Int J Mol Sci. 2020. PMID: 32599915 Free PMC article.

5

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

Jürs AV, Völkner C, Liedtke M, Huth K, Lukas J, Hermann A, Frech MJ. Jürs AV, et al. Among authors: frech mj. Int J Mol Sci. 2020 Oct 16;21(20):7667. doi: 10.3390/ijms21207667. Int J Mol Sci. 2020. PMID: 33081384 Free PMC article.

6

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

Völkner C, Liedtke M, Hermann A, Frech MJ. Völkner C, et al. Among authors: frech mj. Int J Mol Sci. 2021 Jan 12;22(2):710. doi: 10.3390/ijms22020710. Int J Mol Sci. 2021. PMID: 33445799 Free PMC article. Review.

7

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.

Liedtke M, Völkner C, Jürs AV, Peter F, Rabenstein M, Hermann A, Frech MJ. Liedtke M, et al. Among authors: frech mj. Int J Mol Sci. 2021 Apr 13;22(8):4009. doi: 10.3390/ijms22084009. Int J Mol Sci. 2021. PMID: 33924575 Free PMC article.

8

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

Völkner C, Pantoom S, Liedtke M, Lukas J, Hermann A, Frech MJ. Völkner C, et al. Among authors: frech mj. Cells. 2022 Jan 18;11(3):319. doi: 10.3390/cells11030319. Cells. 2022. PMID: 35159129 Free PMC article.

9

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

Liedtke M, Völkner C, Hermann A, Frech MJ. Liedtke M, et al. Among authors: frech mj. Cells. 2022 Feb 1;11(3):507. doi: 10.3390/cells11030507. Cells. 2022. PMID: 35159316 Free PMC article.

10

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

Völkner C, Peter F, Liedtke M, Krohn S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ. Völkner C, et al. Among authors: frech mj. Stem Cell Res. 2019 Dec;41:101606. doi: 10.1016/j.scr.2019.101606. Epub 2019 Oct 15. Stem Cell Res. 2019. PMID: 31669975 Free article.

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