Results 21 to 30 of about 73,134 (225)

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

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

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

Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models

eLife, 2017
Spinal Muscular Atrophy (SMA) is caused by diminished Survival of Motor Neuron (SMN) protein, leading to neuromuscular junction (NMJ) dysfunction and spinal motor neuron (MN) loss.
Patrick J O'Hern, Inês do Carmo G. Gonçalves, Johanna Brecht, Eduardo Javier López Soto, Jonah Simon, Natalie Chapkis, Diane Lipscombe, Min Jeong Kye, Anne C Hart   +8 more
doaj   +1 more source

Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review

Frontiers in Cellular Neuroscience, 2022
Spinal muscular atrophy (SMA) is an inherited disorder characterized by degeneration of motor neurons and symmetrical muscle weakness and atrophy. Moyamoya syndrome (MMS) or moyamoya disease (MMD) is radiologically defined by chronic cerebrovascular ...
Jing Li, Xin Li, Liqun Wang, Guode Wu
doaj   +1 more source

KLF15 overexpression in myocytes fails to ameliorate ALS-related pathology or extend the lifespan of SOD1G93A mice

Neurobiology of Disease, 2022
Amyotrophic Lateral Sclerosis (ALS) is a currently incurable disease that causes progressive motor neuron loss, paralysis and death. Skeletal muscle pathology occurs early during the course of ALS. It is characterized by impaired mitochondrial biogenesis,
Ryan Massopust, Devin Juros, Dillon Shapiro, Mikayla Lopes, Saptarsi M. Haldar, Thomas Taetzsch, Gregorio Valdez   +6 more
doaj   +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

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence

Journal of International Medical Research
Spinal muscular atrophy is a severe neuromuscular disorder caused by mutations in the survival motor neuron 1 gene, leading to progressive motor neuron degeneration.
Eda Kübra Sel, Elvira Meni Maria Gkrinia, Rossana Roncato, Dinko Vitezić, Slobodan Janković, Andrej Belančić,   +6 more
doaj   +1 more source

Expression, Clinical Significance, and Functional Prediction of MNX1 in Breast Cancer

Molecular Therapy: Nucleic Acids, 2018
Motor neuron and pancreas homeobox 1 (MNX1) is a key developmental gene. Previous studies found that it was upregulated in several tumors, but its role in breast cancer (BC) remains unclear.
Tian Tian, Meng Wang, Yuyao Zhu, Wenge Zhu, Tielin Yang, Hongtao Li, Shuai Lin, Cong Dai, Yujiao Deng, Dingli Song, Na Li, Zhen Zhai, Zhi-Jun Dai   +12 more
doaj   +1 more source