Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Debora Kaminski"'
Autor:
Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin Cayuela, Fredrik H Sterky
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp 1-21 (2021)
Abstract Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delay
Externí odkaz:
https://doaj.org/article/4136db5871f54bce829ae48563537d48
Autor:
Frank Matthes, Annika Reßing, Ulrich Matzner, Volkmar Gieselmann, Debora Kaminski, Claudia Yaghootfam
Publikováno v:
Human Molecular Genetics. 29:3807-3817
Enzyme replacement therapies, allogeneic bone marrow transplantation and gene therapies are treatment options for lysosomal storage diseases caused by inherited deficiencies of soluble lysosomal enzymes. Independent from the approach, the enzyme must
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::642da0449f66dfa1ac463409cfaddc8f
https://doi.org/10.1093/hmg/ddaa277
https://doi.org/10.1093/hmg/ddaa277
Autor:
Tjakko J. van Ham, Laia Montoliu-Gaya, Niklas Darin, Fredrik H. Sterky, Leslie E. Sanderson, Lars Schlotawa, Kalliopi Sofou, Maria Blomqvist, Jutta Gärtner, Emma Samuelsson, Jorge Asin Cayuela, Chris Mühlhausen, Kolja Meier, Tahsin Stefan Barakat, Debora Kaminski, Lotta Agholme
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
EMBO Molecular Medicine
EMBO Molecular Medicine, 13(5):e13376. Wiley-Blackwell
EMBO Molecular Medicine
EMBO Molecular Medicine, 13(5):e13376. Wiley-Blackwell
Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d422989cd6775a67d23f79984c39c6ae
https://doi.org/10.15252/emmm.202013376
https://doi.org/10.15252/emmm.202013376
Autor:
Alesia A. Tietze, Debora Kaminski, Ekaterina Mirgorodskaya, Daniel Tietze, Fredrik H. Sterky, Laia Montoliu-Gaya
Publikováno v:
EMBO Reports
Neurexins are presynaptic adhesion molecules that shape the molecular composition of synapses. Diversification of neurexins in numerous isoforms is believed to confer synapse‐specific properties by engaging with distinct ligands. For example, a sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::903d4f74e1dde73676853ca09122e36e
https://doi.org/10.15252/embr.202051349
https://doi.org/10.15252/embr.202051349