Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Karsten Nalbach"'
Autor:
Karsten Nalbach, Martina Schifferer, Debjani Bhattacharya, Hung Ho-Xuan, Wei Chou Tseng, Luis A. Williams, Alexandra Stolz, Stefan F. Lichtenthaler, Zvulun Elazar, Christian Behrends
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a rare fatal neurological disease caused by mis- and nonsense mutations in the gene encoding for Tectonin β-propeller repeat containing protein 2 (TECPR2). While TECPR2 is required fo
Externí odkaz:
https://doaj.org/article/6842faee2f4848b893cd13b63561bcca
Autor:
Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 189-203 (2022)
Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9;
Externí odkaz:
https://doaj.org/article/555fd4156baf47509e8e7211947eb238
Autor:
Karsten Nalbach, Martina Schifferer, Debjani Bhattacharya, Hung Ho-Xuan, Wei Chou Tseng, Luis A. Williams, Alexandra Stolz, Stefan F. Lichtenthaler, Zvulun Elazar, Christian Behrends
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/05c3dec578b84c7e8af33860749eca5a
Publikováno v:
STAR Protocols, Vol 2, Iss 2, Pp 100506- (2021)
Summary: The ascorbate peroxidase APEX2 is commonly used to study the neighborhood of a protein of interest by proximity-dependent biotinylation. Here, we describe a protocol for sample processing compatible with immunoblotting and mass spectrometry,
Externí odkaz:
https://doaj.org/article/046bb2d1a8a54597a74d18c39dfb15a1
Autor:
Oren Shatz, Zvulun Elazar, Milana Fraiberg, Nemanja Subic, Karsten Nalbach, Bat-Chen Tamim-Yecheskel, Bruria Ben-Zeev, Christian Behrends, Gali Heimer, Kamilya Kokabi, Franziska Eck
Publikováno v:
Autophagy
TECPR2 (tectonin beta-propeller repeat containing 2) is a large, multi-domain protein comprised of an amino-terminal WD domain, a middle unstructured region and a carboxy-terminal TEPCR domain comprises of six TECPR repeats followed by a functional L
Autor:
Karsten Motzler, Karsten Nalbach, Revathi Sekar, Ana Alfaro, Martin Hrabe de Angelis, Matthias Blüher, Michael Roden, Stephan Herzig, Natalie Krahmer, Christian Behrends, Anja Zeigerer
Publikováno v:
Journal of Hepatology. 77:S703-S704
Publikováno v:
SSRN Electronic Journal.
Autor:
Karsten Nalbach, Revathi Sekar, AnaJimena Alfaro, MartinHrabe de Angelis, Stephan Herzig, Michael Roden, Christian Behrends, Natalie Krahmer, Anja Zeigerer, Karsten Motzler
Publikováno v:
Zeitschrift für Gastroenterologie.
Autor:
Luise Florin, Joanna Maus, Karsten Nalbach, Heike Huesmann, Ines F Pfalzgraf, Christian Behl, Stella Vo, Anna Stein, Anna S. Besemer, Christian M. von Hilchen, Mirjam D A Ax, Beate Silva, Fatima Boukhallouk, Andreas Kern, Christian Freese, Ingrid Koziollek-Drechsler, Albrecht M. Clement
Publikováno v:
Cellular and Molecular Life Sciences
The cellular protein homeostasis (proteostasis) network responds effectively to insults. In a functional screen in C. elegans, we recently identified the gene receptor-mediated endocytosis 8 (rme-8; human ortholog: DNAJC13) as a component of the prot
Autor:
Luis A, Williams, David J, Gerber, Amy, Elder, Wei Chou, Tseng, Valeriya, Baru, Nathaniel, Delaney-Busch, Christina, Ambrosi, Gauri, Mahimkar, Vaibhav, Joshi, Himali, Shah, Karthiayani, Harikrishnan, Hansini, Upadhyay, Sakthi H, Rajendran, Aishwarya, Dhandapani, Joshua, Meier, Steven J, Ryan, Caitlin, Lewarch, Lauren, Black, Julie, Douville, Stefania, Cinquino, Helen, Legakis, Karsten, Nalbach, Christian, Behrends, Ai, Sato, Lorenzo, Galluzzi, Timothy W, Yu, Duncan, Brown, Sudhir, Agrawal, David, Margulies, Alan, Kopin, Graham T, Dempsey
Publikováno v:
Molecular therapy. Nucleic acids. 29
Mutations in the