Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Thomas Labisch"'
Autor:
Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch, Ben Munro, Rita Horvath, Ana Töpf, Joachim Weis, Andreas Roos
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar ataxia and progressi
Externí odkaz:
https://doaj.org/article/7f98a3f834db4bea907a64fca6f84390
Autor:
Thomas Labisch, Stephan Buchkremer, Jose Gerardo-Nava, René P. Zahedi, Andreas Roos, Christian Gatz, Eva Brauers, Chris Lentz, Laxmikanth Kollipara, Joachim Weis
Publikováno v:
Molecular Neurobiology. 53:5527-5541
SIL1 acts as nucleotide exchange factor for the endoplasmic reticulum chaperone BiP. Mutations of SIL1 cause Marinesco-Sjögren syndrome (MSS), a neurodegenerative disorder. Moreover, a particular function of SIL1 for etiopathology of amyotrophic lat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5acb489aebcabb6a889501f7362b8577
https://doi.org/10.1007/s12035-015-9456-z
https://doi.org/10.1007/s12035-015-9456-z
Autor:
Hans H. Goebel, Stephan Buchkremer, Janbernd Kirschner, Jan Senderek, Thomas Labisch, René P. Zahedi, Laxmikanth Kollipara, Joachim Weis, Christopher Marvin Jesse, Anand Goswami, Andreas Roos, Manuela Zitzelsberger, Richard Zimmermann, Kay Nolte, Eva Brauers, Christian Gatz, J. Michael Schröder
Publikováno v:
Acta Neuropathologica. 127:761-777
Marinesco-Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f886902a8230f95970f001382e1ca798
https://doi.org/10.1007/s00401-013-1224-4
https://doi.org/10.1007/s00401-013-1224-4
Autor:
Thomas, Labisch, Stephan, Buchkremer, Vietxuan, Phan, Laxmikanth, Kollipara, Christian, Gatz, Chris, Lentz, Kay, Nolte, Jörg, Vervoorts, José Andrés González, Coraspe, Albert, Sickmann, Stephanie, Carr, René P, Zahedi, Joachim, Weis, Andreas, Roos
Publikováno v:
Molecular neurobiology. 55(3)
SIL1 acts as a co-chaperone for the major ER-resident chaperone BiP and thus plays a role in many BiP-dependent cellular functions such as protein-folding control and unfolded protein response. Whereas the increase of BiP upon cellular stress conditi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f404ee20c034f9c441903de525193dc4
https://pubmed.ncbi.nlm.nih.gov/28401474
https://pubmed.ncbi.nlm.nih.gov/28401474
Publikováno v:
Processing Declarative Knowledge ISBN: 354055033X
PDK
PDK
In principle there are two reasoning directions for Horn clauses. Top-down reasoning starts with a query, applying the clauses in backward direction until a fact is reached for every subgoal. The result of backward reasoning is a substitution for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7df429cb2fad6acb284370aa8347f328
https://doi.org/10.1007/bfb0013552
https://doi.org/10.1007/bfb0013552
