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 involvement of Rho kinase (ROCK) as well as the extracellular signal-regulated kinases (ERK) pathways in the pathomechanism. Both pathways are bi-directionally linked and inhibit each other. Thus, we hypothesize that both pathways regulate SMA pathophysiology in vivo in a combined manner rather than acting separately. Here, we applied the repurposed drugs, selumetinib, an ERK inhibitor, and the ROCK inhibitor fasudil to severe SMA mice. Thereby, separately applied inhibitors as well as a combination enabled us to explore the impact of the ROCK-ERK signaling network on SMA pathophysiology. ROCK inhibition specifically ameliorated the phenotype of selumetinib-treated SMA mice demonstrating an efficient ROCK to ERK crosstalk relevant for the SMA pathophysiology. However, ERK inhibition alone aggravated the condition of SMA mice and reduced the number of motoneurons indicating a compensatory hyper-activation of ERK in motoneurons. Taken together, we identified a regulatory network acting downstream of SMN depletion and upstream of the SMA pathophysiology thus being a future treatment target in combination with SMN dependent strategies.
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http://dx.doi.org/10.1016/j.nbd.2017.09.005 | DOI Listing |
BMC Med Imaging
January 2025
Department of Physiology, Faculty of Medicine, AJA University of Medical Science, Tehran, Iran.
Background: Cognitive networks impairments are common in neuropsychiatric disorders like Attention Deficit Hyperactivity Disorder (ADHD), bipolar disorder (BD), and schizophrenia (SZ). While previous research has focused on specific brain regions, the role of the procedural memory as a type of long-term memory to examine cognitive networks impairments in these disorders remains unclear. This study investigates alterations in resting-state functional connectivity (rs-FC) within the procedural memory network to explore brain function associated with cognitive networks in patients with these disorders.
View Article and Find Full Text PDFJ Affect Disord
January 2025
School of Medicine and Health, Department of Diagnostic and Interventional Neuroradiology, Technical University of Munich, Munich, Germany; School of Medicine and Health, TUM-NIC Neuroimaging Center, Technical University of Munich, Munich, Germany.
Aim: This study investigates the effects of transcranial direct current stimulation (tDCS) on brain network connectivity in individuals with obsessive-compulsive disorder (OCD).
Methods: In a randomized, double-blind, sham-controlled experimental design anodal tDCS (vs. sham) was applied in a total of 43 right-handed patients with OCD, targeting the right pre-supplementary motor area (pre-SMA).
Cardiovasc Pathol
January 2025
Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine.. Electronic address:
A rare autopsy case of malignant transcription factor E3 (TFE3)-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm is presented. An 84-year-old woman manifested multiple cerebral infarctions and repetitive embolic events in the supra mesenchymal artery (SMA), and the presence of a mobile mass in the heart's left ventricle was also revealed. Tumoral lesions were also found in a pelvic space and a right pleural cavity, and a biopsy was performed from one of the disseminated tumor masses in the right pleura.
View Article and Find Full Text PDFCerebellum
January 2025
Inserm U 1127, CNRS UMR 7225, Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, Institut du Cerveau, ICM, Paris, F-75013, France.
Cerebellar functional and structural connectivity are likely related to motor function after stroke. Less is known about motor recovery, which is defined as a gain of function between two time points, and about the involvement of the cerebellum. Fifteen patients who were hospitalized between 2018 and 2020 for a first cerebral ischemic event with persistent upper limb deficits were assessed by resting-state functional MRI (rsfMRI) and clinical motor score measurements at 3, 9 and 15 weeks after stroke.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland.
Background: With the approval of disease-modifying treatments for 5q-spinal muscular atrophy (SMA), there is an increasing need for biomarkers for disease course and therapeutic response monitoring. Radially sampled Averaged Magnetization Inversion Recovery Acquisitions (rAMIRA) MR-imaging enables spinal cord (SC) gray matter (GM) delineation and quantification in vivo. This study aims to assess SC GM atrophy in patients with 5q-SMA and its associations with clinical disability.
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