Results 61 to 70 of about 19,843 (235)

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Psychological burden in spinal muscular atrophy patients and their families: a systematic review

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background Spinal muscular atrophy (SMA) is an autosomal-recessive disorder that manifests in paralysis and skeletal muscle weaknesses. This neuromuscular problem is caused by degeneration of the spinal cord anterior horn cells. Main body of the abstract
Dian Marta Sari, Laurentia Cindy Gani Wijaya, Wintoro Duraman Roives Sitorus, Mia Milanti Dewi   +3 more
doaj   +1 more source

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models [PDF]

, 2015
Survival of motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the pathogenesis mechanisms remain elusive. Restoring SMN in motor neurons only partially rescues SMA in mouse models, although it is thought to be therapeutically ...
Bennett, C. F., Hua, Y., Krainer, A. R., Liu, Y. H., Rigo, F., Sahashi, K.   +5 more
core   +1 more source

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

Neuroprotective effect of non-viral gene therapy treatment based on tetanus toxin C-fragment in a severe mouse model of Spinal Muscular Atrophy.

Frontiers in Molecular Neuroscience, 2016
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons.
Sara Olivan Garcia, Sara Olivan Garcia, Ana Cristina Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo Fidel Tizzano, Jose Aguilera, Rosario Osta   +9 more
doaj   +1 more source

Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy

Life Science Alliance, 2021
We describe drug treatment paradigms that allow investigation of cellular and molecular pathogenesis at different stages of spinal muscular atrophy in a mouse model. Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of
Anne Rietz, Kevin J Hodgetts, Hrvoje Lusic, Kevin M Quist, Erkan Y Osman, Christian L Lorson, Elliot J Androphy   +6 more
doaj   +1 more source

Phosphatase and tensin homologue: a therapeutic target for SMA [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the most common juvenile neurodegenerative diseases, which can be associated with child mortality. SMA is caused by a mutation of ubiquitously expressed gene, Survival Motor Neuron1 (SMN1), leading to reduced SMN ...
AH Burghes, AK Bevan, AS Arnold, B Trulzsch, C Carissimi, C Simone, CJ DiDonato, CL Lorson, CR Heier, D Buhler, D Little, D Sareen, DJ Freeman, DJ Yang, E Hajduch, ER Hollis 2nd, G Battaglia, G Hamilton, H Liu, H Rindt, HL Zhang, HM Hsieh-Li, HR Fuller, I Tein, J Branchu, J Gu, J Pearn, J Peltier, J Ramser, J Yong, JC Chang, JH Chung, JH Pearn, JO Lee, JR Bach, JV McGivern, K Bilguvar, K Liu, K Ning, KD Foust, KK Park, L Cartegni, L Schnell, L Schnell, L Van Den Bosch, L Viollet, LC Trotman, M Azzouz, M Bowerman, M Bowerman, MB Lachyankar, MM Martin, N Roy, ND Mazarakis, NK Genabai, RA Powis, S Jablonka, S Lefebvre, S Lefebvre, S Majumder, S Rudnik-Schoneborn, S Shanmugarajan, S Zhang, T Baughan, TM Wishart, TW Prior, U Felderhoff-Mueser, UR Monani, V Stambolic, W Rossoll, Y Zhang, Y Zhu, ZY Cheng   +72 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

The Role of Endothelin‐1 in Autoimmune Diseases: Mechanistic Insights and Therapeutic Targets

iNew Medicine, EarlyView.
The Role of Endothelin‐1 in Autoimmune Diseases. NF‐κB: nuclear factor kappa‐B; MAPK: mitogen‐activated protein kinase; PI3K: phosphoinositide 3‐kinase; ROS: reactive oxygen species; CTGF: connective tissue growth factor; TGF‐β: transforming growth factor‐β.
Xun Gong, Zhenyu Wang, Suyin Yang, Kaige Gao, Xin Yang, Min Tang   +5 more
wiley   +1 more source