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Keywords: Spinal muscular atrophy
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Journal Articles

Innovating spinal muscular atrophy models in the therapeutic era

In collection:
Neuromuscular Disease
Ilaria Signoria, W. Ludo van der Pol, Ewout J. N. Groen
Journal: Disease Models & Mechanisms
Dis Model Mech (2023) 16 (9): dmm050352.
https://doi.org/10.1242/dmm.050352
Published: 3 October 2023
...Ilaria Signoria; W. Ludo van der Pol; Ewout J. N. Groen ABSTRACT Spinal muscular atrophy (SMA) is a severe, monogenetic, neuromuscular disease. A thorough understanding of its genetic cause and the availability of robust models has led to the development and approval of three gene-targeting...
View article titled, Innovating <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span> models in the therapeutic era
Open the PDF for Innovating <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span> models in the therapeutic era in another window
Journal Articles

Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis   elegans model of spinal muscular atrophy

In collection:
C. elegans as a Disease Model , Neuromuscular Disease
James J. Doyle, Celine Vrancx, Claudia Maios, Audrey Labarre, Shunmoogum A. Patten, J. Alex Parker
Journal: Disease Models & Mechanisms
Dis Model Mech (2020) 13 (12): dmm041350.
https://doi.org/10.1242/dmm.041350
Published: 22 December 2020
...James J. Doyle; Celine Vrancx; Claudia Maios; Audrey Labarre; Shunmoogum A. Patten; J. Alex Parker ABSTRACT Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease resulting in muscle atrophy and neurodegeneration, and is the leading genetic cause of infant death...
View article titled, Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis   elegans model of <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span>
Open the PDF for Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis   elegans model of <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span> in another window
Journal Articles

Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila

In collection:
Drosophila as a Disease Model , Neuromuscular Disease
Amanda C. Raimer, Suhana S. Singh, Maina R. Edula, Tamara Paris-Davila, Vasudha Vandadi, Ashlyn M. Spring, A. Gregory Matera
Journal: Disease Models & Mechanisms
Dis Model Mech (2020) 13 (5): dmm043307.
https://doi.org/10.1242/dmm.043307
Published: 22 May 2020
...Amanda C. Raimer; Suhana S. Singh; Maina R. Edula; Tamara Paris-Davila; Vasudha Vandadi; Ashlyn M. Spring; A. Gregory Matera ABSTRACT Spinal muscular atrophy (SMA) is the leading genetic cause of death in young children, arising from homozygous deletion or mutation of the survival motor neuron 1...
View article titled, Temperature-sensitive <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span>-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
Open the PDF for Temperature-sensitive <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span>-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila in another window
Includes: Supplementary data
Journal Articles

Therapeutic strategies for spinal muscular atrophy: SMN and beyond

In collection:
Drug Discovery , Neurodegenerative Disorders
Melissa Bowerman, Catherina G. Becker, Rafael J. Yáñez-Muñoz, Ke Ning, Matthew J. A. Wood, Thomas H. Gillingwater, Kevin Talbot, The UK SMA Research Consortium
Journal: Disease Models & Mechanisms
Dis Model Mech (2017) 10 (8): 943–954.
https://doi.org/10.1242/dmm.030148
Published: 1 August 2017
...Melissa Bowerman; Catherina G. Becker; Rafael J. Yáñez-Muñoz; Ke Ning; Matthew J. A. Wood; Thomas H. Gillingwater; Kevin Talbot; The UK SMA Research Consortium ABSTRACT Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy...
View article titled, Therapeutic strategies for <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span>: SMN and beyond
Open the PDF for Therapeutic strategies for <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span>: SMN and beyond in another window
Journal Articles

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

In collection:
Advanced in vitro models , Neurodegenerative Disorders
Chong-Chong Xu, Kyle R. Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun Li
Journal: Disease Models & Mechanisms
Dis Model Mech (2016) 9 (1): 39–49.
https://doi.org/10.1242/dmm.021766
Published: 1 January 2016
...Chong-Chong Xu; Kyle R. Denton; Zhi-Bo Wang; Xiaoqing Zhang; Xue-Jun Li ABSTRACT Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric ( SMN1 ) gene and subsequent decreased levels...
View article titled, Abnormal mitochondrial transport and morphology as early pathological changes in human models of <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span>
Open the PDF for Abnormal mitochondrial transport and morphology as early pathological changes in human models of <span class="search-highlight">spinal</span> <span class="search-highlight">muscular</span> <span class="search-highlight">atrophy</span> in another window
Includes: Supplementary data