Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Soeren Turan"'
Autor:
Enes Yağız Akdaş, Soeren Turan, Debarpan Guhathakurta, Arif Ekici, Seda Salar, D. Chichung Lie, Beate Winner, Anna Fejtova
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103012- (2023)
C-terminal Binding Protein 1 (CTBP1) is a ubiquitously expressed transcriptional co-repressor and membrane trafficking regulator. A recurrent de novo c.991C>T mutation in CTBP1 leads to expression of p.R331W CTBP1 and causes hypotonia, ataxia, develo
Externí odkaz:
https://doaj.org/article/037bb49e8afb41ffb0d59ffa05ab178f
Autor:
Yanni Schneider, Soeren Turan, Aron Koller, Mandy Krumbiegel, Michaela Farrell, Sonja Plötz, Jürgen Winkler, Wei Xiang
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102952- (2022)
Aggregation of alpha-synuclein (aSyn) is closely linked to Parkinson's disease, probably due to the loss of physiological functions and/or gain of toxic functions of aggregated aSyn. Significant efforts have been made elucidating the physiological st
Externí odkaz:
https://doaj.org/article/79e68d30bc574903bbb00a6eb8f36b87
Autor:
Laura Krumm, Tatyana Pozner, Johanna Kaindl, Martin Regensburger, Claudia Günther, Soeren Turan, Reza Asadollahi, Anita Rauch, Beate Winner
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102520- (2021)
Pathogenic bi-allelic variants in the SPG11 gene result in rare motor neuron disorders such as Hereditary Spastic Paraplegia type 11, Charcot-Marie Tooth, and Juvenile Amyotrophic Lateral Sclerosis-5. The main challenge in SPG11-linked disease resear
Externí odkaz:
https://doaj.org/article/1e3dd390cc214c3c924d5363a917a04f
Autor:
Tom Boerstler, Holger Wend, Mandy Krumbiegel, Atria Kavyanifar, André Reis, Dieter Chichung Lie, Beate Winner, Soeren Turan
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101889- (2020)
ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. At present, no appropriate human stem cell model for ARID1
Externí odkaz:
https://doaj.org/article/462365a2b05e49619fb50552be00bbc4
Autor:
Tatyana Pozner, Annika Schray, Martin Regensburger, Dieter Chichung Lie, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Soeren Turan, Beate Winner
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Mutations in SPG11 cause a complicated autosomal recessive form of hereditary spastic paraplegia (HSP). Mechanistically, there are indications for the dysregulation of the GSK3β/βCat signaling pathway in SPG11. In this study, we tested the therapeu
Externí odkaz:
https://doaj.org/article/aa05080c772d4c9388bcf30d5a7732d8
Autor:
Tania Rizo, Lisa Gebhardt, Julia Riedlberger, Esther Eberhardt, Lars Fester, Dalia Alansary, Jürgen Winkler, Soeren Turan, Philipp Arnold, Barbara A Niemeyer, Michael J M Fischer, Beate Winner
Publikováno v:
Brain : a journal of neurology 145(9), 3131–3146 (2022). doi:10.1093/brain/awac122
Brain : a journal of neurology 145(9), 3131–3146 (2022). doi:10.1093/brain/awac122
Published by Oxford Univ. Press, Oxford
Published by Oxford Univ. Press, Oxford
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c0629f535c9204c85b61ac6e51a85e6
Publikováno v:
Advances in Neuroethics ISBN: 9783030976408
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::feb77eafeb1acbd1cc09c3e8e6dd7c3e
https://doi.org/10.1007/978-3-030-97641-5_3
https://doi.org/10.1007/978-3-030-97641-5_3
Autor:
Claudia Günther, Laura Krumm, Martin Regensburger, Reza Asadollahi, Johanna Kaindl, Beate Winner, Soeren Turan, Anita Rauch, Tatyana Pozner
Publikováno v:
Stem Cell Research, Vol 56, Iss, Pp 102520-(2021)
Pathogenic bi-allelic variants in the SPG11 gene result in rare motor neuron disorders such as Hereditary Spastic Paraplegia type 11, Charcot-Marie Tooth, and Juvenile Amyotrophic Lateral Sclerosis-5. The main challenge in SPG11-linked disease resear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8457c1543718bb79c561f4a9acaa8a42
https://pubmed.ncbi.nlm.nih.gov/34479069
https://pubmed.ncbi.nlm.nih.gov/34479069
Autor:
Atria Kavyanifar, André Reis, Mandy Krumbiegel, Soeren Turan, Tom Boerstler, Dieter Chichung Lie, Beate Winner, Holger Wend
Publikováno v:
Stem Cell Research, Vol 47, Iss, Pp 101889-(2020)
ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. At present, no appropriate human stem cell model for ARID1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458239faae402d4d769c45920ec29d5f
http://www.sciencedirect.com/science/article/pii/S1873506120301902
http://www.sciencedirect.com/science/article/pii/S1873506120301902
Publikováno v:
Molecular Therapy. 24(4):685-696
Limb girdle muscular dystrophies types 2B (LGMD2B) and 2D (LGMD2D) are degenerative muscle diseases caused by mutations in the dysferlin and alpha-sarcoglycan genes, respectively. Using patient-derived induced pluripotent stem cells (iPSC), we correc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef1a1dc14c9bea7b92cc4455f0a4192a