Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Suzana Gispert"'
Autor:
Jana Key, Suzana Gispert, Arvind Reddy Kandi, Daniela Heinz, Andrea Hamann, Heinz D. Osiewacz, David Meierhofer, Georg Auburger
Publikováno v:
Biomolecules, Vol 14, Iss 2, p 241 (2024)
The serine peptidase CLPP is conserved among bacteria, chloroplasts, and mitochondria. In humans and mice, its loss causes Perrault syndrome, which presents with growth deficits, infertility, deafness, and ataxia. In the filamentous fungus Podospora
Externí odkaz:
https://doaj.org/article/60dd4f20399d43fa909a042f34ffada4
Autor:
Jana Key, Suzana Gispert, Lieke Koornneef, Esther Sleddens-Linkels, Aneesha Kohli, Sylvia Torres-Odio, Gabriele Koepf, Shady Amr, Marina Reichlmeir, Patrick N. Harter, Andrew Phillip West, Christian Münch, Willy M. Baarends, Georg Auburger
Publikováno v:
Cells, Vol 12, Iss 1, p 52 (2022)
Human Perrault syndrome (PRLTS) is autosomal, recessively inherited, and characterized by ovarian insufficiency with hearing loss. Among the genetic causes are mutations of matrix peptidase CLPP, which trigger additional azoospermia. Here, we analyze
Externí odkaz:
https://doaj.org/article/bfcfed9fb52d4af5857419515812626b
Autor:
Tim Lampmann, Valeri Borger, Jürgen Konczalla, Suzana Gispert, Georg Auburger, Hartmut Vatter, Erdem Güresir
Publikováno v:
Brain Sciences, Vol 12, Iss 9, p 1239 (2022)
The rupture of an intracranial aneurysm (IA) leads to life-threatening subarachnoid hemorrhage. Aside from well-established risk factors, recently published genome-wide association studies of IA revealed the strong association of a common variant nea
Externí odkaz:
https://doaj.org/article/76bce34c0cbd4bed932adb8d3d380910
Publikováno v:
Cells, Vol 11, Iss 15, p 2370 (2022)
In the matrix of bacteria/mitochondria/chloroplasts, Lon acts as the degradation machine for soluble proteins. In stress periods, however, proteostasis and survival depend on the strongly conserved Clp/Hsp100 family. Currently, the targets of ATP-pow
Externí odkaz:
https://doaj.org/article/9110d22f8e874037a022bab799255222
Autor:
Júlia Canet-Pons, Nesli-Ece Sen, Aleksandar Arsović, Luis-Enrique Almaguer-Mederos, Melanie V. Halbach, Jana Key, Claudia Döring, Anja Kerksiek, Gina Picchiarelli, Raphaelle Cassel, Frédérique René, Stéphane Dieterlé, Nina V. Fuchs, Renate König, Luc Dupuis, Dieter Lütjohann, Suzana Gispert, Georg Auburger
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105289- (2021)
Large polyglutamine expansions in Ataxin-2 (ATXN2) cause multi-system nervous atrophy in Spinocerebellar Ataxia type 2 (SCA2). Intermediate size expansions carry a risk for selective motor neuron degeneration, known as Amyotrophic Lateral Sclerosis (
Externí odkaz:
https://doaj.org/article/52a024677ac64e5d9a2e23fc61696b54
Autor:
Nesli-Ece Sen, Júlia Canet-Pons, Melanie V. Halbach, Aleksandar Arsovic, Ulrich Pilatus, Woon-Hyung Chae, Zeynep-Ece Kaya, Kay Seidel, Ewa Rollmann, Michel Mittelbronn, David Meierhofer, Chris I. De Zeeuw, Laurens W.J. Bosman, Suzana Gispert, Georg Auburger
Publikováno v:
Neurobiology of Disease, Vol 132, Iss , Pp - (2019)
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG-expansion mutations in the ATXN2 gene, mainly affecting motor neurons in the spinal cord and Purkinje neurons in the cerebellum. While the large ex
Externí odkaz:
https://doaj.org/article/8f937dac08e74311ae0f6a2beb80f2d2
Autor:
Jana Key, Sylvia Torres-Odio, Nina C. Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A. Phillip West, Holger Prokisch, Peter Freisinger, William G. Newman, Stavit Shalev, Stephan A. Sieber, Ilka Wittig, Georg Auburger
Publikováno v:
Cells, Vol 10, Iss 12, p 3354 (2021)
Biallelic pathogenic variants in CLPP, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing l
Externí odkaz:
https://doaj.org/article/392176045a06439686ba95e970055680
Autor:
Sylvia Torres-Odio, Jana Key, Hans-Hermann Hoepken, Júlia Canet-Pons, Lucie Valek, Bastian Roller, Michael Walter, Blas Morales-Gordo, David Meierhofer, Patrick N. Harter, Michel Mittelbronn, Irmgard Tegeder, Suzana Gispert, Georg Auburger
Publikováno v:
Journal of Neuroinflammation, Vol 14, Iss 1, Pp 1-26 (2017)
Abstract Background PINK1 deficiency causes the autosomal recessive PARK6 variant of Parkinson’s disease. PINK1 activates ubiquitin by phosphorylation and cooperates with the downstream ubiquitin ligase PARKIN, to exert quality control and control
Externí odkaz:
https://doaj.org/article/37f1030eeb624662a92964439fd188fb
Autor:
Valentin Evsyukov, Andrii Domanskyi, Holger Bierhoff, Suzana Gispert, Rasem Mustafa, Falk Schlaudraff, Birgit Liss, Rosanna Parlato
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 5, Pp 633-643 (2017)
Genetic mutations underlying neurodegenerative disorders impair ribosomal DNA (rDNA) transcription suggesting that nucleolar dysfunction could be a novel pathomechanism in polyglutamine diseases and in certain forms of amyotrophic lateral sclerosis/f
Externí odkaz:
https://doaj.org/article/54dc73aef5084b65a8c262fd83a1a2f4
Autor:
Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu, Kay Seidel, Jorge Antolio Domínguez-Bautista, Nadine Brehm, Hülya Tireli, Karl Hackmann, Caroline Pirkevi, Barbara Leube, Vincent Ries, Kerstin Reim, Nils Brose, Wilfred F. den Dunnen, Madrid Johnson, Zsuzsanna Wolf, Marc Schindewolf, Wiebke Schrempf, Kathrin Reetz, Peter Young, David Vadasz, Achilleas S. Frangakis, Evelin Schröck, Helmuth Steinmetz, Marina Jendrach, Udo Rüb, Ayşe Nazlı Başak, Wolfgang Oertel, Georg Auburger
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 5, Pp 619-631 (2017)
Parkinson's disease (PD) is a frequent neurodegenerative process in old age. Accumulation and aggregation of the lipid-binding SNARE complex component α-synuclein (SNCA) underlies this vulnerability and defines stages of disease progression. Determi
Externí odkaz:
https://doaj.org/article/f247356cd98c40f2b0349f1591cc83ae