Results 21 to 30 of about 204,647,773 (266)

Decreased function of survival motor neuron protein impairs endocytic pathways [PDF]

, 2016
Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele.
Geetika Kalloo, Derdowski, A, Kalloo, Geetika, Poulogiannis, George, Patrick O’Hern, Hart, Anne C, Poulogiannis, G, Altar Sorkaç, Anne C. Hart, O'Hern, P, Bliska, Bryn, Sorkaç, Altar, Cook, SJ, Derdowski, Aaron, Ken C. Q. Nguyen, Atwood, WJ, Steven J. Cook, Hart, AC, Melissa S. Maginnis, Maginnis, MS, Cook, Steven J, Dimitriadi, M, Nguyen, Ken C Q, Kalloo, G, Dimitriadi, Maria, Hall, David H, Nguyen, KCQ, Bryn Bliska, David H. Hall, Aaron Derdowski, O'Hern, Patrick, Hall, DH, Maria Dimitriadi, Atwood, Walter J, Walter J. Atwood, Maginnis, Melissa S, Bliska, B, George Poulogiannis, Sorkaç, A   +38 more
core   +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

Altered Metabolic Profiles Associate with Toxicity in SOD1G93A Astrocyte-Neuron Co-Cultures

Scientific Reports, 2017
Non-cell autonomous processes involving astrocytes have been shown to contribute to motor neuron degeneration in amyotrophic lateral sclerosis. Mutant superoxide dismutase 1 (SOD1G93A) expression in astrocytes is selectively toxic to motor neurons in co ...
Gabriel N. Valbuena, Massimo Tortarolo, Caterina Bendotti, Lavinia Cantoni, Hector C. Keun   +4 more
doaj   +1 more source

Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA). [PDF]

PLoS ONE, 2014
Spinal Muscular Atrophy (SMA) is a hereditary childhood disease that causes paralysis by progressive degeneration of skeletal muscles and spinal motor neurons.
Saniya Fayzullina, Lee J Martin
doaj   +1 more source

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

Journal of Experimental Neuroscience, 2016
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad, Kanchan Bhatia, Annapoorna Kannan, Laxman Gangwani   +3 more
doaj   +1 more source

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

Disease Models & Mechanisms, 2016
Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a
Chong-Chong Xu, Kyle R. Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun Li   +4 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

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

Boundary cap cells constrain spinal motor neuron somal migration at motor exit points by a semaphorin-plexin mechanism [PDF]

, 2007
In developing neurons, somal migration and initiation of axon outgrowth often occur simultaneously and are regulated in part by similar classes of molecules. When neurons reach their final destinations, however, somal translocation and axon extension are
Mitchell, KJ, Little, GE, Vermeren Matthieu, Kokot Natalie, Cohen, J, Little Graham E, Bron Romke, Andrews William, Cohen James, Andrews, W, Bron, R, Kokot, N, Vermeren, M, Mitchell Kevin J, Graham E Little, Natalie Kokot, William Andrews, Kevin J Mitchell, Romke Bron, Matthieu Vermeren, James Cohen   +20 more
core   +11 more sources

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