Results 1 to 10 of about 159,037 (298)

Neurotrophic requirements of human motor neurons defined using amplified and purified stem cell-derived cultures. [PDF]

PLoS ONE, 2014
Human motor neurons derived from embryonic and induced pluripotent stem cells (hESCs and hiPSCs) are a potentially important tool for studying motor neuron survival and pathological cell death.
Nuno Jorge Lamas, Bethany Johnson-Kerner, Laurent Roybon, Yoon A Kim, Alejandro Garcia-Diaz, Hynek Wichterle, Christopher E Henderson   +6 more
doaj   +17 more sources

Survival motor neuron protein deficiency alters microglia reactivity. [PDF]

Glia, 2022
AbstractSurvival motor neuron (SMN) protein deficiency results in loss of alpha motor neurons and subsequent muscle atrophy in patients with spinal muscular atrophy (SMA). Reactive microglia have been reported in SMA mice and depleting microglia rescues the number of proprioceptive synapses, suggesting a role in SMA pathology.
Khayrullina G, Alipio-Gloria ZA, Deguise MO, Gagnon S, Chehade L, Stinson M, Belous N, Bergman EM, Lischka FW, Rotty J, Dalgard CL, Kothary R, Johnson KA, Burnett BG.   +13 more
europepmc   +3 more sources

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. [PDF]

PLoS Genetics, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
Penelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater   +16 more
doaj   +7 more sources

Fluorescence Correlation Spectroscopy Reveals Survival Motor Neuron Oligomerization but No Active Transport in Motor Axons of a Zebrafish Model for Spinal Muscular Atrophy [PDF]

Frontiers in Cell and Developmental Biology, 2021
Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons that is caused by a deficiency in ubiquitously expressed Survival Motor Neuron (SMN) protein.
Angela Koh, Menachem Viktor Sarusie, Jürgen Ohmer, Utz Fischer, Christoph Winkler, Thorsten Wohland, Thorsten Wohland   +6 more
doaj   +2 more sources

Diverse role of survival motor neuron protein. [PDF]

Biochim Biophys Acta Gene Regul Mech, 2017
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes. SMN regulates biogenesis of small nuclear RNPs, small nucleolar RNPs, small Cajal body-associated RNPs,
Singh RN, Howell MD, Ottesen EW, Singh NN.   +3 more
europepmc   +5 more sources

Survival Motor Neuron (SMN) Protein Insufficiency Exacerbates Renal Ischemia/Reperfusion Injury [PDF]

Frontiers in Physiology, 2019
The survival of motor neuron (SMN) protein is ubiquitously involved in spliceosome assembly and ribonucleoprotein biogenesis. SMN protein is expressed in kidney and can affect cell death processes. However, the role of SMN in acute kidney injury (AKI) is
Xiaoqian Qian, Xiaoqian Qian, Yichao Du, Gengru Jiang, Gengru Jiang, Fujun Lin, Fujun Lin, Lei Yao   +7 more
doaj   +2 more sources

The amino acid transporter LAT1 coordinates proper motor function at the perinatal stage [PDF]

Cell Death and Disease
L-type amino acid transporter 1 (LAT1, encoded by Slc7a5) contributes to amino acid homeostasis and signaling in numerous cell types. Several lines of evidence implicate LAT1 in mammalian central nervous system development, but its functional ...
Koki Sadamori, Manami Hiraiwa, Tetsuhiro Horie, Kazuya Tokumura, Kazuya Fukasawa, Kentaro Sahashi, Soji Hayashida, Takuya Kubo, Makoto Yoshimoto, Shohei Tsuji, Yasuhito Ishigaki, Masahisa Katsuno, Eiichi Hinoi   +12 more
doaj   +2 more sources

Survival motor neuron protein modulates neuron-specific apoptosis [PDF]

Proceedings of the National Academy of Sciences, 2000
Spinal muscular atrophy (SMA) is attributed to mutations in the SMN1 gene, leading to loss of spinal cord motor neurons. The neurotropic Sindbis virus vector system was used to investigate a role for the survival motor neuron (SMN) protein in regulating neuronal apoptosis.
D A, Kerr, J P, Nery, R J, Traystman, B N, Chau, J M, Hardwick   +4 more
openaire   +2 more sources

Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice

Neurobiology of Disease, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by survival motor neuron (SMN) protein deficiency which results in motor neuron loss and muscle atrophy. SMA is caused by a mutation or deletion of the survival motor neuron 1 (
Kaitlyn M. Kray, Vicki L. McGovern, Deepti Chugh, W. David Arnold, Arthur H.M. Burghes   +4 more
doaj   +1 more source

Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report

International Journal of Reproductive BioMedicine, 2022
Background: Spinal muscular atrophy (SMA) is characterized by the homozygous deletion of the survival motor neuron-1 gene. Pre-implantation genetic testing for monogenic diseases through in-vitrofertilization program was developed to provide a reliable ...
Arie Adrainus Polim, Nining Handayani, Dian Kesumapramudya Nurputra, Anggia Melanie Lubis, Batara Sirait, Dennis Jakobus, Arief Boediono, Ivan Sini   +7 more
doaj   +1 more source