Results 121 to 130 of about 174,614,231 (302)

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy

Frontiers in Bioscience, 2010
Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. The reduced SMN levels are due to loss of the survival motor neuron-1 (SMN1) gene.
T. Bebee, J. Gladman, D. Chandler
semanticscholar   +1 more source

Effects of sensorimotor learning on the human mirror neuron system [PDF]

, 2009
The discovery, in the monkey, of “mirror” neurons, which fire in response both to the performance and to the observation of specific actions, has prompted extensive research into their properties, and into the possible functions of a putative mirror ...
Catmur, C, Catmur, C.
core  

Potential of Cell-Penetrating Peptide-Conjugated Antisense Oligonucleotides for the Treatment of SMA

Molecules
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that is caused by mutations in the survival motor neuron 1 (SMN1) gene, hindering the production of functional survival motor neuron (SMN) proteins.
Jamie Leckie, Toshifumi Yokota
doaj   +1 more source

Biodegradable and Biocompatible Functional Polymers for Biomedical Applications

Advanced Functional Materials, EarlyView.
Biodegradable and biocompatible functional polymers integrate electrical, mechanical, and stimuli‐responsive functionalities while enabling programmed degradation under physiological conditions. This review introduces recent advances in conductive, shape‐memory, self‐healing, photocurable, and adhesive polymer systems, emphasizing material design ...
Won Bae Han, Shuvra Mondal, Sungkeun Han, Chan‐Hwi Eom, Venkata Ramesh Naganaboina, Suk‐Won Hwang   +5 more
wiley   +1 more source

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

BMC Medicine, 2012
Background Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and is typified by the loss of spinal cord motor neurons, muscular atrophy, and in ...
Bowerman Melissa, Murray Lyndsay M, Boyer Justin G, Anderson Carrie L, Kothary Rashmi   +4 more
doaj   +1 more source

An Intronic Splicing Enhancer Element in Survival Motor Neuron (SMN) Pre-mRNA*

Journal of Biological Chemistry, 2003
Spinal muscular atrophy is caused by the homozygous loss of survival motor neuron 1 (SMN1). SMN2, a nearly identical copy gene, differs from SMN1 only by a single nonpolymorphic C to T transition in exon 7, which leads to alteration of exon 7 splicing ...
H. Miyaso, M. Okumura, S. Kondo, Satoshi Higashide, H. Miyajima, K. Imaizumi   +5 more
semanticscholar   +1 more source

3D Bioprinted Glioblastoma Multiforme Models: How the Extracellular Matrix Glycosignature Influences Drug Response

Advanced Functional Materials, EarlyView.
Aberrant glycosylation in the glioblastoma tumor microenvironment drives therapeutic resistance. Here, a 3D bioprinted model was engineered by incorporating α‐NeuNAc‐(2→3)‐β‐D‐Gal‐ and chondroitin sulfate. Combined multiplex immunofluorescence and synchrotron‐based nanoCT analysis revealed that glycan‐matrix interactions dictate specific drug‐escape ...
Francesca Cadamuro, Marco Piazzoni, Ilaria Borghi, Alberto Baeri, Alessandro Fumagalli, Federica Perillo, Hafiz Muhammad Fahad, Martina Ghizzi, Luca Crippa, Gabriella Nicolini, Angela Bentivegna, Daniele Ramazzotti, Valentina Zuliani, Mirko Rivara, Carlo Giorgio Giussani, Andrea Di Cristofori, Guido Cavaletti, Federica Facciotti, Sobhan Sheikhi, Claire Seydoux, Murielle Salome, Peter Cloetens, Alberto Bravin, Paola Coan, Francesco Nicotra, Laura Russo   +25 more
wiley   +1 more source

Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons

, 2014
Spinal muscular atrophy (SMA) is a lethal neurodegenerative disease specifically affecting spinal motor neurons. SMA is caused by the homozygous deletion or mutation of the survival of motor neuron 1 (SMN1) gene.
Zhang, Honglai, Fallini, Claudia, Rouanet, Jeremy P., Donlin-Asp, Paul G., Guo, Peng, Bassell, Gary J., Singer, Robert H., Rossoll, Wilfried   +7 more
core   +1 more source

Multiple functions of LIM domain-binding CLIM/NLI/Ldb cofactors during zebrafish development [PDF]

, 2002
The crucial involvement of CLIM/NLI/Ldb cofactors for the exertion of the biological activity of LIM homeodomain transcription factors (LIM-HD) has been demonstrated.
Bossenz, Michael, Peirano, Reto I, Becker, Thomas, Ostendorff, Heather P, Bach, Ingolf, Schlüter, Anne, Becker, Catherina G   +6 more
core   +1 more source