Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Vanessa Grysko"'
Autor:
Aaradhita Upadhyay, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Anna Kaczmarek, Laura Torres-Benito, Natalia Mendoza-Ferreira, Melina Overhoff, Roman Rombo, Vanessa Grysko, Min Jeong Kye, Natalia L. Kononenko, Brunhilde Wirth
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Neurocalcin delta (NCALD) is a brain-enriched neuronal calcium sensor and its reduction acts protective against spinal muscular atrophy (SMA). However, the physiological function of NCALD and implications of NCALD reduction are still elusive. Here, w
Externí odkaz:
https://doaj.org/article/35272ecbff7c41e6b8cfd4fe658f58e1
Autor:
Karen K. Ling, Roman Rombo, Aaradhita Upadhyay, Svenja Schneider, Laura Torres-Benito, Frank Rigo, C. Frank Bennett, Natalia L. Kononenko, Vanessa Grysko, Brunhilde Wirth
Publikováno v:
The American Journal of Human Genetics. 105:221-230
Spinal muscular atrophy (SMA) is a neuromuscular disease causing the most frequent genetic childhood lethality. Recently, nusinersen, an antisense oligonucleotide (ASO) that corrects SMN2 splicing and thereby increases full-length SMN protein, has be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67eadab3202ce58d4b8d7bb5fd699c4d
https://doi.org/10.1016/j.ajhg.2019.05.008
https://doi.org/10.1016/j.ajhg.2019.05.008
Autor:
Seyyedmohsen Hosseinibarkooie, Frank Zaucke, Brunhilde Wirth, Theresa Tschanz, Anja Niehoff, Miriam Peters, Vanessa Grysko, Irmgard Hölker, Janine Neugebauer, Natalia Mendoza-Ferreira, Franziska Nolte, Juliane Heilig, Kristina Hupperich, Bryony C Ross
Publikováno v:
Human molecular genetics. 27(24)
Over 200 million people suffer from osteoporosis worldwide, one third of which will develop osteoporotic bone fractures. Unfortunately, no effective cure exists. Mutations in plastin 3 (PLS3), an F-actin binding and bundling protein, cause X-linked p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e776a06525b0373c13eb588d8e94cd71
https://pubmed.ncbi.nlm.nih.gov/30204862
https://pubmed.ncbi.nlm.nih.gov/30204862
Autor:
Seyyedmohsen Hosseinibarkooie, Markus Riessland, Laura Torres-Benito, Natalia Mendoza-Ferreira, Eva Janzen, Svenja Schneider, Frank Rigo, Kristina Hupperich, Min Jeong Kye, Vanessa Grysko, Matthias Hammerschmidt, Brunhilde Wirth, Theresa Tschanz, C. Frank Bennett
Publikováno v:
Brain
Plastin3 is a protective modifier of spinal muscular atrophy (SMA). Janzen et al. report that CHP1 interacts directly with plastin3, and that CHP1 suppression reduces SMA pathology in cellular and animal models by restoring impaired endocytosis. CHP1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1728b8f988d42bd4b09fbaee70a6664
https://pubmed.ncbi.nlm.nih.gov/29961886
https://pubmed.ncbi.nlm.nih.gov/29961886
Autor:
Sandra Kröber, Alexander Hoischen, Maria Dimitriadi, Nasim Biglari, Matthias Hammerschmidt, Anne C. Hart, Irmgard Hölker, Gudrun Nürnberg, Peter Kloppenburg, Michael Walter, Miriam Peters, Frank Rigo, C. Frank Bennett, Kathryn J. Swoboda, Vanessa Grysko, Brunhilde Wirth, Seyyedmohsen Hosseinibarkooie, Anna Kaczmarek, Peter Nürnberg, Aaradhita Upadhyay, Christian Gilissen, Lutz Garbes, Svenja Schneider, Cathleen Bradler, Min Jeong Kye, Markus Riessland, Heiko Löhr, Laura Torres-Benito
Publikováno v:
American Journal of Human Genetics, 100, 297-315
American Journal of Human Genetics, 100, 2, pp. 297-315
American Journal of Human Genetics, 100, 2, pp. 297-315
Item does not contain fulltext Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal genetic childhood motor neuron disease. SMN1 encodes SMN, a ubiquitous housekeeping protein, which makes the primarily motor neuron-speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da4aacabf76665c5948ca043bc6b6389
http://hdl.handle.net/2066/170271
http://hdl.handle.net/2066/170271
