Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Johannes Numrich"'
Autor:
Kornelia Tripolszki, Melina Bilinski, Matthias Bieg, Anett Marais, Catarina Pereira, Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich, Krishna Kumar Kandaswamy, Jorge Pinto-Basto, Peter Bauer, Omid Paknia
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101520- (2024)
Externí odkaz:
https://doaj.org/article/a6ec8e4e90ee4089a2d63adadc258d2e
Autor:
Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression. Method Next‐generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional
Externí odkaz:
https://doaj.org/article/caf1f3839f7f47dbb19f4354834cd3c9
Autor:
Nikolai Paul Pace, S. Aquilina, Judith Fischer, Rijad Merdzanic, Isabella Borg, Dillon Mintoff, Liam Mercieca, Johannes Numrich, Julia Vornweg
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression. Method Next‐generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1501fb9acf1de2c197dbb65faa60ec29
http://europepmc.org/articles/PMC8104165
http://europepmc.org/articles/PMC8104165
Autor:
Christopher J. Stefan, Pedro Carpio Malia, Taki Nishimura, Ayelén González Montoro, Johannes Numrich, Christian Ungermann
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance The lysosome-like vacuole is the main organelle to degrade membrane proteins and organelles and, thus, provides amino acids, but also ions to the cytosol for cellular survival. Maintenance of vacuole membrane integrity is thus important
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8439ce531aae29f24436c09bf25d5d84
http://europepmc.org/articles/PMC5939101
http://europepmc.org/articles/PMC5939101
Autor:
Johannes Numrich, Christian Ungermann
Publikováno v:
bchm. 395:327-333
The endolysosomal system controls the trafficking of proteins between the plasma membrane and the degradative environment of the lysosome. The early endosomal Rab5 and the late endosomal Rab7 GTPases have a key role in the transport along the endocyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20ef5bff69db8536ddfd69d482975c8c
https://doi.org/10.1515/hsz-2013-0258
https://doi.org/10.1515/hsz-2013-0258