scholarly journals The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy

2021 ◽  
Vol 8 (4) ◽  
pp. 866-876
Author(s):  
Charlotte Spicer ◽  
Ching‐Hua Lu ◽  
Francesco Catapano ◽  
Mariacristina Scoto ◽  
Irina Zaharieva ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Mouse Models ◽  
Muscular Atrophy ◽  
Altered Expression

scholarly journals Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

2018 ◽  
Vol 27 (16) ◽  
pp. 2851-2862 ◽  
Author(s):  
Ewout J N Groen ◽  
Elena Perenthaler ◽  
Natalie L Courtney ◽  
Crispin Y Jordan ◽  
Hannah K Shorrock ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Mouse Models ◽  
Muscular Atrophy ◽  
Tissue Specific ◽  
Protein Levels ◽  
Smn Protein

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

2013 ◽  
Vol 23 (7) ◽  
pp. 1754-1770 ◽  
Author(s):  
Kelvin See ◽  
Preeti Yadav ◽  
Marieke Giegerich ◽  
Pearl S. Cheong ◽  
Martin Graf ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Mouse Models ◽  
Muscular Atrophy

Altered Expression of ARPP Protein in Skeletal Muscles of Patients with Muscular Dystrophy, Congenital Myopathy and Spinal Muscular Atrophy

Pathobiology ◽  
2004 ◽  
Vol 71 (1) ◽  
pp. 43-51 ◽  
Author(s):  
Chisato Nakada ◽  
Yoshiyuki Tsukamoto ◽  
Akira Oka ◽  
Ikuya Nonaka ◽  
Kenzo Sato ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Spinal Muscular Atrophy ◽  
Skeletal Muscles ◽  
Muscular Atrophy ◽  
Congenital Myopathy ◽  
Altered Expression

Contribution of the immune system and astrocytes to spinal muscular atrophy pathology

2018 ◽  
Author(s):  
◽  
Marie-Therese Khairallah
Keyword(s):  
Immune System ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Membrane Integrity ◽  
Survival Motor Neuron ◽  
White Pulp ◽  
Functional Impairments ◽  
Altered Expression ◽  
The Impact

[ACCESS RESTRICTED TO THE UNIVERSITY OF MISSOURI AT AUTHOR'S REQUEST.] Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the leading genetic cause of infant mortality. SMA is caused by afunctional loss of the survival motor neuron-1 (SMN1) gene and the subsequent deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. SMA presents by motor neuron loss and muscle atrophy, and historically was considered an autonomous disease of the a-lower motor neuron (LMN). In this work we investigated effects of low levels of SMN outside the LMNs. Specifically, we looked in the spleen to determine the impact of SMN deficiency on the spleen development and the integrity of the splenic immune cells. Additionally, we analyzed astrocytes to determine if they exhibit functional impairments that could compromise their role in supporting the survival and function of LMNs. First, we reported spleen hypoplasia in multiple SMA mouse models with alteration of the splenic architecture due to a severe reduction in the red pulp zone and relative conservation of the white pulp area. We found alterations in the relative abundance of splenic mediators of the immune response, where the resident macrophage subset was depleted starting at early pre-symptomatic time (post-natal day 2), whereas the B- and T-lymphocytes, and CD11b+ macrophages had higher frequency at the late symptomatic age (post-natal day 12). Secondly, we showed that primary astrocytes derived from the spinal cord of a SMA mouse model had compromised efficiency in their glutamate uptake capacity. Moreover, SMA spinal cords had altered expression in the level of flottilin-1, a lipid raft protein necessary for cell membrane integrity and for the function of receptors and transporters. Furthermore, we showed a higher expression of the NR2B, a subunit of the glutamate receptor NMDAR that signals mainly toward apoptosis. In summary, this work characterized new pathologies in two non-neuronal tissues in the CNS and in the periphery, demonstrated that the spleen and the immune system are likely contributing to the overall clinical pathology of SMA, and found altered mechanisms in astrocytes function that might explain their effect on LMNs in SMA.

scholarly journals Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Marc-Olivier Deguise ◽  
Justin G. Boyer ◽  
Emily R. McFall ◽  
Armin Yazdani ◽  
Yves De Repentigny ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Mouse Models ◽  
Muscle Atrophy ◽  
Muscular Atrophy ◽  
Differential Induction

scholarly journals Pharmacokinetics, pharmacodynamics, and efficacy of a small-moleculeSMN2splicing modifier in mouse models of spinal muscular atrophy

2016 ◽  
Vol 25 (10) ◽  
pp. 1885-1899 ◽  
Author(s):  
Xin Zhao ◽  
Zhihua Feng ◽  
Karen K. Y. Ling ◽  
Anna Mollin ◽  
Josephine Sheedy ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Mouse Models ◽  
Muscular Atrophy

scholarly journals SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

2010 ◽  
Vol 19 (8) ◽  
pp. 1492-1506 ◽  
Author(s):  
Markus Riessland ◽  
Bastian Ackermann ◽  
Anja Förster ◽  
Miriam Jakubik ◽  
Jan Hauke ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Mouse Models ◽  
Muscular Atrophy

scholarly journals Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

2015 ◽  
Vol 29 (3) ◽  
pp. 288-297 ◽  
Author(s):  
Yimin Hua ◽  
Ying Hsiu Liu ◽  
Kentaro Sahashi ◽  
Frank Rigo ◽  
C. Frank Bennett ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Transgenic Mouse ◽  
Mouse Models ◽  
Muscular Atrophy ◽  
Transgenic Mouse Models
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