A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN

Autor: Sebastian Rademacher, Nora T. Detering, Tobias Schüning, Robert Lindner, Pamela Santonicola, Inga-Maria Wefel, Janina Dehus, Lisa M. Walter, Hella Brinkmann, Agathe Niewienda, Katharina Janek, Miguel A. Varela, Melissa Bowerman, Elia Di Schiavi, Peter Claus

Publikováno v: Cells, Vol 9, Iss 11, p 2405 (2020)

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by decreased levels of the survival of motoneuron (SMN) protein. Post-translational mechanisms for regulation of its stability are still elusive. Thus, we aimed to identify regulatory ph

Externí odkaz: https://doaj.org/article/7097473dd94a440e803af1b7c34e2a24

Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy.

Autor: Niko Hensel, Andreas Ratzka, Hella Brinkmann, Lars Klimaschewski, Claudia Grothe, Peter Claus

Publikováno v: PLoS ONE, Vol 7, Iss 2, p e31202 (2012)

The monogenetic disease Spinal Muscular Atrophy (SMA) is characterized by a progressive loss of motoneurons leading to muscle weakness and atrophy due to severe reduction of the Survival of Motoneuron (SMN) protein. Several models of SMA show deficit

Externí odkaz: https://doaj.org/article/9cb7fde236e0447e83c381a4b12515ed

Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy

Autor: Manuela F. Richter, Stefania Corti, Pamela Santonicola, Michela Taiana, Silke Fischer, Tobias Schüning, Natascha Heidrich, Elisa Pagliari, Sabrina Kubinski, Elia Di Schiavi, Klaus Jung, Peter Claus, Antonia Joseph, Anke K. Bergmann, Federica Cieri, Hella Brinkmann, Ines Tapken, Niko Hensel

Publikováno v: Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America (Online) (2021). doi:10.1073/pnas.2007785118
info:cnr-pdr/source/autori:Hensel N, Cieri F, Santonicola P, Tapken I, Schüning T, Taiana M, Pagliari E, Joseph A, Fischer S, Heidrich N, Brinkmann H, Kubinski S, Bergmann AK, Richter MF, Jung K, Corti S, Di Schiavi E, Claus P./titolo:Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy/doi:10.1073%2Fpnas.2007785118/rivista:Proceedings of the National Academy of Sciences of the United States of America (Online)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume

Spinal muscular atrophy (SMA) is a motoneuron disease caused by deletions of the Survival of Motoneuron 1 gene (SMN1) and low SMN protein levels. SMN restoration is the concept behind a number of recently approved drugs which result in impressive yet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b651af1752779ced779f4a1559a729d
https://doi.org/10.1073/pnas.2007785118

ERK and ROCK functionally interact in a signaling network that is compensationally upregulated in Spinal Muscular Atrophy

Autor: Peter Claus, Niko Hensel, Hella Brinkmann, Manuela Gernert, Svetlana Baskal, Lisa Marie Walter

Publikováno v: Neurobiology of Disease, Vol 108, Iss, Pp 352-361 (2017)

Spinal Muscular Atrophy (SMA) is a motoneuron disease caused by low levels of functional survival of motoneuron protein (SMN). Molecular disease mechanisms downstream of functional SMN loss are still largely unknown. Previous studies suggested an inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6c3c28def7f3d412db636da8a69670
https://doi.org/10.1016/j.nbd.2017.09.005

Immobile survival of motoneuron (SMN) protein stored in Cajal bodies can be mobilized by protein interactions

Autor: Peter Claus, Michal K. Stachowiak, Hella Brinkmann, Benjamin Förthmann, Andreas Ratzka, Claudia Grothe

Publikováno v: Cellular and Molecular Life Sciences. 70:2555-2568

Reduced levels of survival of motoneuron (SMN) protein lead to spinal muscular atrophy, but it is still unknown how SMN protects motoneurons in the spinal cord against degeneration. In the nucleus, SMN is associated with two types of nuclear bodies d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0d74115274b66c730b161946db77c04
https://doi.org/10.1007/s00018-012-1242-8