Results 51 to 60 of about 840,189 (237)

ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons

Cell Death Discovery, 2023
Spinal Muscular Atrophy (SMA) is a severe genetic neuromuscular disorder that occurs in childhood and is caused by misexpression of the survival motor neuron (SMN) protein.
Alba Sansa, Maria P. Miralles, Maria Beltran, Ferran Celma-Nos, Jordi Calderó, Ana Garcera, Rosa M. Soler   +6 more
doaj   +1 more source

Systematic Multi‐Level Analyses Decode the Arthritis‐Neurodegeneration Axis With In Vivo Validation

Advanced Science, EarlyView.
Arthritis and neurodegeneration are usually studied as separate disorders, but this study connects them through population evidence, genetic inference, transcriptomic mapping, and mouse models. It highlights RNF40 as a context‐dependent joint‐brain candidate, induced in inflammatory joints yet functionally linked to dopamine‐neuron vulnerability ...
Jinwen Wang, Wenhui Xie, Lei Yang, Zhengrong Wang, Yi Huang, Peng Huang, Yuan Liu, Jun Hu   +7 more
wiley   +1 more source

The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1

Pakistan Journal of Medicine and Dentistry
Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition ...
Almas Siddique, Shanzay Siddique, Erum Akhter   +2 more
doaj   +1 more source

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol [PDF]

Einstein (São Paulo)
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor ...
Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca   +7 more
doaj   +1 more source

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2021
Background 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes.
Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun, Andreas Ziegler   +19 more
doaj   +1 more source

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

Cell Reports, 2017
Summary: Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism often result in neurodegenerative conditions, with increasing evidence suggesting that translation defects can contribute to disease.
Paola Bernabò, Toma Tebaldi, Ewout J.N. Groen, Fiona M. Lane, Elena Perenthaler, Francesca Mattedi, Helen J. Newbery, Haiyan Zhou, Paola Zuccotti, Valentina Potrich, Hannah K. Shorrock, Francesco Muntoni, Alessandro Quattrone, Thomas H. Gillingwater, Gabriella Viero   +14 more
doaj   +1 more source

Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons

Neurobiology of Disease, 2021
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder caused by loss of the Survival Motor Neuron 1 gene (SMN1). Due to this depletion of the survival motor neuron (SMN) protein, the disease is characterized by the degeneration of spinal cord ...
Alba Sansa, Sandra de la Fuente, Joan X. Comella, Ana Garcera, Rosa M. Soler   +4 more
doaj   +1 more source

A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy

, 2007
Objective: To determine whether oral creatine produces positive changes in any of 4 outcomes in children with spinal muscular atrophy (SMA). Methods: The authors conducted a randomized, double-blind, placebo-controlled trial on 55 patients aged 2-18 ...
Hynan, Linda S, Iannaccone, Susan T, Wong, Brenda L   +2 more
core   +1 more source

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice [PDF]

, 2009
Background: In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal ...
Hazel P Williams, Greensmith Linda, Francesca Achilli, Ruth Chia, Elizabeth M. C. Fisher, Hazel P. Williams, Fisher Elizabeth M. C., Achilli, F., Chia, R, Bryson, J.B., Bros-Facer, V., Greensmith, L., Bros-Facer, V, Banks, G.T., Bryson, JB, Banks, GT, Fisher, EMC, Bros-Facer Virginie, Linda Greensmith, Fisher, E.M.C., Banks Gareth T., Chia, R., Gareth T Banks, Williams, HP, Greensmith, L, Williams Hazel P., Elizabeth M C Fisher, J Barney Bryson, Gareth T. Banks, Virginie Bros-Facer, Achilli Francesca, Williams, H.P., Bryson J. Barney, Chia Ruth, J. Barney Bryson, Achilli, F   +35 more
core   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source