Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Axel Niemann"'
Publikováno v:
Neurobiology of Disease, Vol 36, Iss 3, Pp 509-520 (2009)
Mutations in the GDAP1 gene lead to recessively or dominantly inherited peripheral neuropathies (Charcot–Marie–Tooth disease; CMT). Here, we demonstrate that GDAP1 is a mitochondrial fission factor whose activity is dependent on the fission facto
Externí odkaz:
https://doaj.org/article/115210cce251430dba2202d4901ba03a
Publikováno v:
PLoS ONE, Vol 4, Iss 4, p e5160 (2009)
Proteins controlling mitochondrial dynamics are often targeted to and anchored into the mitochondrial outer membrane (MOM) by their carboxyl-terminal tail-anchor domain (TA). However, it is not known whether the TA modulates protein function. GDAP1 i
Externí odkaz:
https://doaj.org/article/1ac74a6bfaed461ea2b9a78ba6475326
Autor:
Axel Niemann, Pietro Incardona, Maysam Mansouri, Ivo F. Sbalzarini, Aurélien Rizk, Gregory Paul, Philipp Berger, Milica Bugarski, Urs Ziegler
Publikováno v:
Nature Protocols. 9:586-596
Detection and quantification of fluorescently labeled molecules in subcellular compartments is a key step in the analysis of many cell biological processes. Pixel-wise colocalization analyses, however, are not always suitable, because they do not pro
Autor:
Ueli Suter, Thomas Bock, Páris N. M. Sidiropoulos, Axel Niemann, Dies Meijer, Michaela Miehe, Rohini Kuner, Carole I. Oertli, Elisa Tinelli, Bernd Wollscheid
Publikováno v:
Brain : a journal of neurology
Brain, 135, 1395-1411. Oxford University Press
Brain: A Journal of Neurology, 135 (5)
Brain, 135, 1395-1411. Oxford University Press
Brain: A Journal of Neurology, 135 (5)
Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy. In this study, we aimed to elucidate the disease mechanisms in
Autor:
David R. Cornblath, Nina Huber, Vincent Timmerman, Alice B. Schindler, E. Jaakkola, Dagmara Kabzińska, J. Pilch, Michaela Auer-Grumbach, Albena Jordanova, Andrzej Kochański, P. De Jonghe, Christian Guelly, Magdalena Zimoń, Irena Hausmanowa-Petrusewicz, Ueli Suter, Gian Maria Fabrizi, Axel Niemann, Kenneth H. Fischbeck, E. De Vriendt, Jonathan Baets
Publikováno v:
Neurology
Objective: Ganglioside-induced differentiation associated-protein 1 ( GDAP1 ) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT) neuropathy; however, in rare instances, they also lead to autosomal dominant Charcot-
Autor:
Dagmara Kabzińska, Hanna Drac, Andrzej Kochański, Irena Hausmanowa-Petrusewicz, Nina Huber, Ueli Suter, Axel Niemann, Anna Potulska-Chromik
Publikováno v:
Neurogenetics
Charcot-Marie-Tooth disease (CMT) caused by mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene is characterized by a spectrum of phenotypes. Recurrent nonsense mutations (Q163X and S194X) showing regional distribut
Autor:
Joachim Weis, Klaus Zerres, Uwe Peter Ketelsen, Sabine Rudnik-Schöneborn, Janbernd Kirschner, Axel Niemann, Garth A. Nicholson, Jan Senderek, Jürgen Seeger, Yesim Parman, Esra Battaloglu, Alexander Krüttgen, Claudia Stendel, François Castagner, Rudolf Korinthenberg, Vincent Timmerman, Carsten Bergmann, Tine Deconinck, Jorge A. Pereira, Robert A. Ouvrier, João B. Relvas, Ueli Suter, Andreas Roos, Peter De Jonghe
Publikováno v:
The American journal of human genetics
GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disr
Autor:
Hans-Peter Elsässer, Axel Niemann, David Fuhrmann, Herbert Reingruber, Armin Zankel, Adrián Sanz-Moreno, Lara Kern, Dies Meijer
Publikováno v:
Journal of Biological Chemistry, 290(2), 727-743. American Society for Biochemistry and Molecular Biology Inc.
The transcription factor Miz1 (Myc-interacting zinc finger 1) is a known regulator of the cell cycle but also has cell cycle-independent functions. Here we analyzed the role of Miz1 in the peripheral nervous system, using an early embryonic condition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2da4119bf5bd12af05423bdfc98642
https://pure.eur.nl/en/publications/6ab0176d-58fc-4b97-9f8c-760830b10054
https://pure.eur.nl/en/publications/6ab0176d-58fc-4b97-9f8c-760830b10054
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network
Publikováno v:
The Journal of Cell Biology
Mutations in GDAP1 lead to severe forms of the peripheral motor and sensory neuropathy, Charcot-Marie-Tooth disease (CMT), which is characterized by heterogeneous phenotypes, including pronounced axonal damage and demyelination. We show that neurons
Publikováno v:
Journal of Controlled Release. 82:441-454
Polyethylenimine (PEI) is a cationic polymer which can be complexed with DNA. PEI-DNA complexes can be used for in vitro and in vivo gene delivery approaches. The excess of positive surface charges enhances the association of the complex with the pla