Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Uwe Peter Ketelsen"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e63ac2a001b396a3fc4ac6e69cf913b
Autor:
Uwe-Peter Ketelsen, Bernhard Setzer, Jörg Haberstroh, Andrea Geist, Ulrich A. Walker, Dirk Lebrecht, Felix Kratz
Publikováno v:
International Journal of Cancer. 120:927-934
Doxorubicin causes a chronic cardiomyopathy in which genetic and functional lesions of mitochondria accumulate in the long-term and explain in part the delayed onset of heart dysfunction. DOXO-EMCH a 6-maleimidocaproyl hydrazone derivative of doxorub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::764103cd7fab0207b1be3c2b27823151
https://doi.org/10.1002/ijc.22409
https://doi.org/10.1002/ijc.22409
Autor:
Janbernd Kirschner, Christina Wasner, Thomas Brune, Thorsten Marquardt, Uwe-Peter Ketelsen, Manfred Wehnert, Anja Feuer, Rudolf Korinthenberg, Peter Wieacker, Carsten G. Bönnemann, Jonas Denecke
Publikováno v:
Annals of Neurology. 57:148-151
We report a young girl with a phenotype combining early-onset myopathy and a progeria. She had myopathy and marked axial weakness during the first year of life; progeroid features, including growth failure, sclerodermatous skin changes, and osteolyti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf04c94ad088f29940b21791fdd542c0
https://doi.org/10.1002/ana.20359
https://doi.org/10.1002/ana.20359
Autor:
Thomas Müller, Burkhard Simma, Lothar Bereuter, Andreas R. Janecke, Wolfgang Vogel, Uwe-Peter Ketelsen, Felix Offner, Susanne Dertinger
Publikováno v:
The Journal of Pediatrics. 145:705-709
The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7af843974fb1ecb7e175c9a71aac4ac
https://doi.org/10.1016/j.jpeds.2004.07.024
https://doi.org/10.1016/j.jpeds.2004.07.024
Autor:
Uwe-Peter Ketelsen, Volker Rickerts, Nils Venhoff, Schlomo Staszewski, Bernhard Setzer, Helmut Schöfer, Markus Bickel, Severine I. Lütke Volksbeck, Ulrich A. Walker
Publikováno v:
JAIDS Journal of Acquired Immune Deficiency Syndromes. 29:117-121
To investigate if possible mitochondrial injury can be found in adipose tissue of nucleoside analogue reverse transcriptase inhibitor (NRTI)-treated patients, subcutaneous fat was taken from the buttocks of 24 HIV-positive patients and 8 HIV-negative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cf8e10f0be7c2cafcde47d900c10a5
https://doi.org/10.1097/00042560-200202010-00002
https://doi.org/10.1097/00042560-200202010-00002
Autor:
Uwe-Peter Ketelsen, Josef Müller-Höcker, Wolfgang Müller-Felber, Marcell Töpfer, Dieter Pongratz, Beate Schlotter
Publikováno v:
Journal of Neurology. 246:408-411
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::519d6d86068b6f692a22c81d89d621d0
https://doi.org/10.1007/s004150050374
https://doi.org/10.1007/s004150050374
Autor:
Yorck Hellenbroich, Klaus Müller, Peter F.M. van der Ven, Alfried Germing, Dieter O. Fürst, Turgut Brodherr, Sören Peters, Vera Bruchertseifer, Uwe-Peter Ketelsen, Dirk Fischer, Angela Huebner, Hanns Lochmüller, Matthias Vorgerd, Janbernd Kirschner, Rudolf A. Kley, Katharina Eger, Christoph M. Heyer, Rolf Schröder, Karen Tolksdorf, Maggie C. Walter, Conny Reum
Publikováno v:
Brain : a journal of neurology. 130(Pt 12)
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres. We studied 31 patients from four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8085ca8df24002ddecd8f0663e0a9f6f
https://pubmed.ncbi.nlm.nih.gov/18055494
https://pubmed.ncbi.nlm.nih.gov/18055494
Publikováno v:
The Journal of pathology. 207(4)
Doxorubicin causes a chronic cardiomyopathy. Although the exact pathogenesis is unknown, recent animal data suggest that somatically acquired alterations of mitochondrial DNA (mtDNA) and concomitant mitochondrial dysfunction play an important role in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::187f14dea798750f38fea1bee5ce2a09
https://pubmed.ncbi.nlm.nih.gov/16278810
https://pubmed.ncbi.nlm.nih.gov/16278810
Publikováno v:
Circulation. 108(19)
Background— Doxorubicin causes a chronic cardiomyopathy of unknown pathogenesis. We investigated whether acquired defects in mitochondrial DNA (mtDNA) and interconnected respiratory chain dysfunction may represent a molecular mechanism for its late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b6610686a2351585e6b84efe41f693
https://pubmed.ncbi.nlm.nih.gov/14568902
https://pubmed.ncbi.nlm.nih.gov/14568902
Autor:
Carl-Hermann Lücking, Uwe-Peter Ketelsen, F.X. Glocker, Michaela Jaksch, Michael Kottlors, Stefan M. Weiner
Publikováno v:
Neuromuscular disorders : NMD. 11(8)
A 47-year-old man suffering from a bipolar disorder and intermittent myoglobinuria presented with acute rhabdomyolysis with renal failure after starting therapy with valproic acid. On morphological examination, skeletal muscle revealed increased lipi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::265e127cf4fd26acc731e428200ea177
https://pubmed.ncbi.nlm.nih.gov/11595519
https://pubmed.ncbi.nlm.nih.gov/11595519