A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.

Autor: Renske I Wadman, Marloes Stam, Marc D Jansen, Yana van der Weegen, Camiel A Wijngaarde, Oliver Harschnitz, Peter Sodaar, Kees P J Braun, Dennis Dooijes, Henny H Lemmink, Leonard H van den Berg, W Ludo van der Pol

Publikováno v: PLoS ONE, Vol 11, Iss 11, p e0167087 (2016)

Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA) are currently underway. Biomarkers that document treatment-induced effects are needed because disease progression in childhood forms of SMA is slow a

Externí odkaz: https://doaj.org/article/e99f54abe7b64ae79f3fd84102bb4fb4

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

Autor: Max Koppers, Jeroen den Hertog, Dianne M.A. van den Heuvel, Stefano Dini Modigliani, R. Jeroen Pasterkamp, Eleonora Aronica, Jasper J. Anink, Anne Snelting, Anna M. Blokhuis, Irene Bozzoni, Leonard H. van den Berg, Femke van Diggelen, Jeroen Demmers, Ewout J N Groen, Katsumi Fumoto, Bert M. Verheijen, Peter Sodaar, Jan H. Veldink

Publikováno v: Acta Neuropathologica. Springer Verlag GmbH
Acta Neuropathologica
Acta Neuropathologica, 132(2), 175-196. Springer Verlag
Acta Neuropathologica, 132(2), 175–196. Springer Verlag
Acta Neuropathologica, 132(2), 175-196. Springer-Verlag
Acta neuropathologica, 132(2), 175-196. Springer Verlag

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment available. An increasing number of genetic causes of ALS are being identified, but how these genetic defects lead to motor neuron degeneration and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed0db96ed3b96d3c9b2245a0badd8bc
https://doi.org/10.1007/s00401-016-1575-8

Down-regulation of GRK2 after oxygen and glucose deprivation in rat hippocampal slices: role of the PI3-kinase pathway

Autor: Peter Sodaar, Maria Stella Lombardi, Annemieke Kavelaars, Cobi Jacoba Johanna Heijnen, Freek L. Van Muiswinkel, Anne Vroon

Publikováno v: Journal of Neurochemistry. 102:731-740

G protein-coupled receptor kinase 2 (GRK2) modulates G protein-coupled receptor desensitization and signaling. We previously described down-regulation of GRK2 expression in vivo in rat neonatal brain following hypoxia-ischemia. In this study, we inve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fe903929f1b2b4125261ebf33c14e8d7
https://doi.org/10.1111/j.1471-4159.2007.04576.x

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

Autor: Leonard H. van den Berg, Ann Meester-Delver, Sanne Piepers, Renske I. Wadman, W-Ludo van der Pol, John H. J. Wokke, Peter Sodaar, Marc D. Jansen, Jan-Maarten Cobben, Henny H. Lemmink, Bwee Tien Poll-The

Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry, 82(8), 850-852. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 82(8), 850-852. BMJ Publishing Group
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 82(8), 850-852. BMJ PUBLISHING GROUP

Spinal muscular atrophy (SMA) is caused by the homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene produces small amounts of full-length mRNA and functional SMN protein, due to a point mutation in a critical s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7838997f0d294d275077791d53fe15fa
https://hdl.handle.net/11245/1.364822

Oxidant treatment causes a dose-dependent phenotype of apoptosis in cultured motoneurons

Autor: Peter Sodaar, H. Veldman, P. R. Dop Bär, E. C. A. Kaal, E.A.J. Joosten

Publikováno v: Journal of Neuroscience Research. 54:778-786

Evidence is growing that reactive oxygen species (ROS), by-products of (normal) cellular aerobic metabolism, are involved in the pathogenesis of neurodegenerative diseases. One of these diseases is amyotrophic lateral sclerosis (ALS), in which motone

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::360887364f91656267b6290262270950
https://doi.org/10.1002/(sici)1097-4547(19981215)54:6<778::aid-jnr5>3.0.co