Cargando…

Muscle: an independent contributor to the neuromuscular spinal muscular atrophy disease phenotype

Spinal muscular atrophy (SMA) is a pediatric-onset neuromuscular disorder caused by insufficient survival motor neuron (SMN) protein. SMN restorative therapies are now approved for the treatment of SMA; however, they are not curative, likely due to a combination of imperfect treatment timing, inadeq...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jha, Narendra N., Kim, Jeong-Ki, Her, Yoon-Ra, Monani, Umrao R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10561723/ https://www.ncbi.nlm.nih.gov/pubmed/37737261 http://dx.doi.org/10.1172/jci.insight.171878

Ejemplares similares

Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
por: Gollapalli, Kishore, et al.
Publicado: (2021)

Neuromuscular Junctions as Key Contributors and Therapeutic Targets in Spinal Muscular Atrophy
por: Boido, Marina, et al.
Publicado: (2016)

Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy
por: Lee, Andrew J-H., et al.
Publicado: (2012)

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy
por: Montes, Jacqueline, et al.
Publicado: (2021)

Smn, the spinal muscular atrophy–determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
por: Rossoll, Wilfried, et al.
Publicado: (2003)

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
por: Monani, Umrao R., et al.
Publicado: (2003)

Modeling the Early Phenotype at the Neuromuscular Junction of Spinal Muscular Atrophy Using Patient-Derived iPSCs
por: Yoshida, Michiko, et al.
Publicado: (2015)

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
por: Ling, Karen K. Y., et al.
Publicado: (2010)

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
por: Bowerman, Melissa, et al.
Publicado: (2014)

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy
por: Millere, Elina, et al.
Publicado: (2021)

Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy
por: Yeo, Crystal Jing Jing, et al.
Publicado: (2020)

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction
por: Lanfranco, Maia, et al.
Publicado: (2017)

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy
por: Walsh, Melissa B., et al.
Publicado: (2020)

Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy
por: Iida, Madoka, et al.
Publicado: (2019)

Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
por: Arnold, W David, et al.
Publicado: (2021)

Spinal muscular atrophy
por: D'Amico, Adele, et al.
Publicado: (2011)

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
por: Tsai, Li-Kai
Publicado: (2012)

Respiratory muscle fatigability in patients with spinal muscular atrophy
por: Kant‐Smits, Kim, et al.
Publicado: (2022)

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
por: Zhuri, Drenushe, et al.
Publicado: (2022)

Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III
por: Luan, Xing-Hua, et al.
Publicado: (2017)

Retraction: Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Publicado: (2021)

Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy
por: Molotsky, Elana, et al.
Publicado: (2022)

Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy
por: Hijikata, Yasuhiro, et al.
Publicado: (2016)

Nusinersen for spinal muscular atrophy
por: Wurster, Claudia D., et al.
Publicado: (2018)

Spinal Muscular Atrophy and Ependymoma
por: Albakr, Aishah, et al.
Publicado: (2017)

Risdiplam for spinal muscular atrophy
Publicado: (2022)

Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy
por: Deguise, Marc-Olivier, et al.
Publicado: (2016)

Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy
por: Boido, Marina, et al.
Publicado: (2018)

Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA)
por: Feng, Zhihua, et al.
Publicado: (2021)

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy
por: Hunter, Gillian, et al.
Publicado: (2016)

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
por: Song, Ju Sun, et al.
Publicado: (2015)

Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy
por: Ni, Wang, et al.
Publicado: (2015)

Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future
por: McGrattan, Katlyn Elizabeth, et al.
Publicado: (2021)

Glut1 deficiency syndrome: New and emerging insights into a prototypical brain energy failure disorder
por: Tang, Maoxue, et al.
Publicado: (2021)

Improvement of Neuromuscular Synaptic Phenotypes without Enhanced Survival and Motor Function in Severe Spinal Muscular Atrophy Mice Selectively Rescued in Motor Neurons
por: Paez-Colasante, Ximena, et al.
Publicado: (2013)

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent
por: Wu, Chia-Yen, et al.
Publicado: (2009)

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
por: Millino, Caterina, et al.
Publicado: (2009)

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
por: Lombardi, Vittoria, et al.
Publicado: (2019)

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
por: Borgia, Doriana, et al.
Publicado: (2017)

How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?
por: Uher, David, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_j54keinc409lirfq01ajrfmgvq