Results 71 to 80 of about 604,348 (394)

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

FEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican, Yara Nabawi, William Hongyu Zhang, Dunja Petrovic, Markus Wehrmann, Sara Muñoz‐García, Seda Koyuncu, David Vilchez   +7 more
wiley   +1 more source

G9a promotes muscular atrophy in chronic aging and acute denervation

Animal Diseases
Muscular atrophy accompanied by neuromuscular junction (NMJ) denervation is often observed after long-term chronic diseases and aging and is associated with substantial morbidity and mortality.
Ying Jin, Wei Kang, Xiaoge Ji, Yihao Zhou, Ling Zheng   +4 more
doaj   +1 more source

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
core   +1 more source

Metabolic Dysfunction in Spinal Muscular Atrophy

International Journal of Molecular Sciences, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide treatment and gene therapy have made it possible for SMA patients to benefit from ...
M. Deguise, Lucia Chehadé, R. Kothary
semanticscholar   +1 more source

Transcriptional regulation of neuropeptide receptors underlies context‐dependent adaptation in Drosophila melanogaster

FEBS Open Bio, EarlyView.
Under environmental changes, the expression level of neuropeptide (NP) and neuropeptide receptor (NPR) genes changes to confer context‐dependent adaptation to the model organism Drosophila melanogaster. Through finding more regulatory elements in the NPR genes in comparison with their ligands (NPs), we found that NPR‐biased transcriptional regulation ...
SeungHeui Ryu, Yanan Wei, Zekun Wu, Tianmu Zhang, DoHoon Lee, Hadi Najafi, Woo Jae Kim   +6 more
wiley   +1 more source

Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease) [PDF]

Archives of the Balkan Medical Union, 2018
Introduction. Spinal muscular atrophy type 1 is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and atrophy.
Mariana A. RYZNYCHUK, Mariana I. KRYVCHANSKA, Irina V. LASTIVKA, Tatiana V. KHMARA, Valentyna A. GONCHARENKO   +4 more
doaj  

The efficacy and safety of nusinersen within the expanded access program in Russia

Нервно-мышечные болезни, 2020
Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva, L. M. Kuzenkova, E. S. Ilyina, Yu. A. Kursakova, L. M. Kolpakchi, E. Yu. Sapego, A. A. Golenko, S. G. Popovich, D. V. Parshin, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, D. V. Vlodavets   +12 more
doaj   +1 more source

Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]

, 2014
Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph, Svensson, Kristoffer   +1 more
core   +1 more source