Zobrazeno 1 - 10 of 39 pro vyhledávání: '"Axel Niemann"'
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Akademický článek
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
Autor: Axel Niemann, Konstanze Marion Wagner, Marcel Ruegg, Ueli Suter
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
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5
Akademický článek
Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor.
Autor: Konstanze M Wagner, Marcel Rüegg, Axel Niemann, Ueli Suter
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
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6
Segmentation and quantification of subcellular structures in fluorescence microscopy images using Squassh
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70775a221b53885c4742ec3af481ab1
https://doi.org/10.1038/nprot.2014.037
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7
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination
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)
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5d94a705c584819a090009ad10b8375
https://pure.eur.nl/en/publications/f53c4445-b8d4-454c-848e-0f4cc64555dd
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9
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacc269d88ad26be8477d2ae7c98c59d
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