Results 11 to 20 of about 73,691 (271)

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy

Medicine, 2020
Abstract In this article, the correlation between the copy number of survival motor neuron 2 (SMN2) gene, neuronal apoptosis inhibitory protein (NAIP), and the phenotype of spinal muscular atrophy patients were analyzed.Forty patients with spinal muscular atrophy (SMA) were included in the study at the Department of Medical ...
Zhang, Yinhong, He, Jing, Zhang, Yunqian, Li, Li, Tang, Xinhua, Wang, Lei, Guo, Jingjing, Jin, Chanchan, Tighe, Sean, Zhang, Yuan, Zhu, Yingting, Zhu, Baosheng   +11 more
openaire   +2 more sources

Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides. [PDF]

PLoS ONE, 2016
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deficiency of the survival of motor neuron (SMN) protein, which leads to synaptic defects and spinal motor neuron death.
Te-Lin Lin, Tai-Heng Chen, Ya-Yun Hsu, Yu-Hua Cheng, Bi-Tzen Juang, Yuh-Jyh Jong   +5 more
doaj   +1 more source

Motor fiber function in spinal muscular atrophy—analysis of conduction velocity distribution

Frontiers in Neurology, 2023
ObjectivesThe motor neuron survival protein, which is deficient in spinal muscular atrophy (SMA), performs numerous cellular functions. Currently, SMA is believed to be a multi-organ disease, including lesion of various structures of the central and ...
Magdalena Koszewicz, Jakub Ubysz, Edyta Dziadkowiak, Malgorzata Wieczorek, Slawomir Budrewicz   +4 more
doaj   +1 more source

Lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor antagonist, ameliorates disease progression in amyotrophic lateral sclerosis model mice

Cell Death Discovery, 2023
Nogo–Nogo receptor 1 (NgR1) signaling is significantly implicated in neurodegeneration in amyotrophic lateral sclerosis (ALS). We previously showed that lateral olfactory tract usher substance (LOTUS) is an endogenous antagonist of NgR1 that prevents all
Takuya Ikeda, Keita Takahashi, Minatsu Higashi, Hiroyasu Komiya, Tetsuya Asano, Akihiro Ogasawara, Shun Kubota, Shunta Hashiguchi, Misako Kunii, Kenichi Tanaka, Mikiko Tada, Hiroshi Doi, Hideyuki Takeuchi, Kohtaro Takei, Fumiaki Tanaka   +14 more
doaj   +1 more source

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
core   +1 more source

CREB1 Facilitates GABAergic Neural Differentiation of Human Mesenchymal Stem Cells through BRN2 for Pain Alleviation and Locomotion Recovery after Spinal Cord Injury

Cells, 2023
The transplantation of GABAergic neuron cells has been reported to alleviate nerve pain and improve motor function after spinal cord injury (SCI). However, human mesenchymal stem cell (hMSC) differentiation into GABAergic neuron cells in a sufficient ...
Yanbing Kao, Hanming Zhu, Yu Yang, Wenyuan Shen, Wei Song, Renjie Zhang, Yanchun Liu, Haoyun Liu, Xiaohong Kong   +8 more
doaj   +1 more source

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
core   +1 more source

Iron insufficiency compromises motor neurons and their mitochondrial function in Irp2-null mice. [PDF]

PLoS ONE, 2011
Genetic ablation of Iron Regulatory Protein 2 (Irp2, Ireb2), which post-transcriptionally regulates iron metabolism genes, causes a gait disorder in mice that progresses to hind-limb paralysis.
Suh Young Jeong, Daniel R Crooks, Hayden Wilson-Ollivierre, Manik C Ghosh, Rachid Sougrat, Jaekwon Lee, Sharon Cooperman, James B Mitchell, Carole Beaumont, Tracey A Rouault   +9 more
doaj   +1 more source

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth   +2 more
core   +1 more source

Proteomic assessment of a cell model of spinal muscular atrophy

BMC Neuroscience, 2011
Background Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. Complete loss of the SMN protein is embryonically
Lee Kelvin H, Kerr Douglas, Choe Leila, Glazewski Lisa, Whye Dosh, Wu Chia-Yen, Mason Robert W, Wang Wenlan   +7 more
doaj   +1 more source