Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Stefanie Schuster"'
Autor:
Stefan Hauser, Marion Poenisch, Yvonne Schelling, Philip Höflinger, Stefanie Schuster, Axel Teegler, Rabea Betten, Jan-Åke Gustafsson, Jeannette Hübener-Schmid, Thomas Schlake, Frédéric Chevessier-Tünnesen, Nigel Horscroft, Ingemar Björkhem, Ludger Schöls
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 359-370 (2019)
Hereditary spastic paraplegia type 5 is a neurodegenerative disease caused by loss-of-function mutations in the CYP7B1 gene encoding the oxysterol 7-α-hydroxylase involved in bile acid synthesis in the liver. Lack of CYP7B1 leads to an accumulation
Externí odkaz:
https://doaj.org/article/4aeaa97d4bae48d099f191ccf0272017
Autor:
Stefan Hauser, Stefanie Schuster, Elena Heuten, Philip Höflinger, Jakob Admard, Yvonne Schelling, Ana Velic, Boris Macek, Stephan Ossowski, Ludger Schöls
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Disease modeling requires appropriate cellular models that best mimic the underlying pathophysiology. Human origin and an adequate expression of the disease protein are pre-requisites that support information from a model to be meaningful. In this st
Externí odkaz:
https://doaj.org/article/011df73636fb446083c5cb75672489e2
Autor:
Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser
Publikováno v:
Stem Cell Research, Vol 29, Iss , Pp 166-169 (2018)
STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with reces
Externí odkaz:
https://doaj.org/article/5d654aa0297b4d28a2d5e579ce00e698
Publikováno v:
Stem Cell Research, Vol 34, Iss , Pp - (2019)
STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Missense and truncating mutations in STUB1 lead to SCAR16. For ideal in vitro disease m
Externí odkaz:
https://doaj.org/article/bc79e48a9faa4ccf95efb529db870ded
Publikováno v:
Stem Cell Research, Vol 17, Iss 2, Pp 426-429 (2016)
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #2
Externí odkaz:
https://doaj.org/article/957fbd1d534a4c6998f4674f9994c261
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
The endogenous neutral amino acid L-proline exhibits a variety of physiological and behavioral actions in the nervous system, highlighting the importance of accurately regulating its extracellular abundance. The L-proline transporter PROT (Slc6A7) is
Externí odkaz:
https://doaj.org/article/6aa147bbd05645ca822397a68e863731
Autor:
Karina Kaczmarek-Hajek, Jiong Zhang, Robin Kopp, Antje Grosche, Björn Rissiek, Anika Saul, Santina Bruzzone, Tobias Engel, Tina Jooss, Anna Krautloher, Stefanie Schuster, Tim Magnus, Christine Stadelmann, Swetlana Sirko, Friedrich Koch-Nolte, Volker Eulenburg, Annette Nicke
Publikováno v:
eLife, Vol 7 (2018)
The P2X7 channel is involved in the pathogenesis of various CNS diseases. An increasing number of studies suggest its presence in neurons where its putative functions remain controversial for more than a decade. To resolve this issue and to provide a
Externí odkaz:
https://doaj.org/article/b062997e054c49a3929a6f440c8b1a7e
Autor:
Zohreh Hosseinzadeh, Stefanie Schuster, Yogesh Singh, Nefeli Zacharopoulou, Philip Höflinger, Ludger Schöls, Christos Stournaras, Florian Lang, Lisann Pelzl, Yamini Sharma, Stefan Hauser, Eberhart Zrenner, Daniel Rathbun
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific reports 10(1), 8391 (2020). doi:10.1038/s41598-020-64845-0
Scientific reports 10(1), 8391 (2020). doi:10.1038/s41598-020-64845-0
Loss of function mutations of the chorein-encoding gene VPS13A lead to chorea-acanthocytosis (ChAc), a neurodegenerative disorder with accelerated suicidal neuronal cell death, which could be reversed by lithium. Chorein upregulates the serum and glu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b78376c4b2009a2cf3944bfb257b95e7
http://link.springer.com/article/10.1038/s41598-020-64845-0
http://link.springer.com/article/10.1038/s41598-020-64845-0
Autor:
Jan-Åke Gustafsson, Ingemar Björkhem, Stefanie Schuster, Yvonne Schelling, Frédéric Chevessier-Tünnesen, Axel Teegler, Ludger Schöls, Nigel Horscroft, Thomas Schlake, Jeannette Hübener-Schmid, Rabea Betten, Stefan Hauser, Philip Höflinger, Marion Poenisch
Publikováno v:
Molecular therapy 15, 359-370 (2019). doi:10.1016/j.omtm.2019.10.011
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 359-370 (2019)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 359-370 (2019)
Molecular Therapy. Methods & Clinical Development
Hereditary spastic paraplegia type 5 is a neurodegenerative disease caused by loss-of-function mutations in the CYP7B1 gene encoding the oxysterol 7-α-hydroxylase involved in bile acid synthesis in the liver. Lack of CYP7B1 leads to an accumulation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8277177653ed05b358a5134453b27720
https://doi.org/10.1016/j.omtm.2019.10.011
https://doi.org/10.1016/j.omtm.2019.10.011
Autor:
Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani
Publikováno v:
American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024
Summary BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207
https://escholarship.org/uc/item/7rn0f207
