• Spinal muscular atrophy (SMA) is a neurodegenerative disease produced by low levels of Survival Motor Neuron (SMN) protein that affects alpha motoneurons in the spinal cord. (mdpi.com)
  • Administration of gene therapy viruses into skeletal muscle, where distal terminals of motor and sensory neurons reside, has been shown to result in extensive transduction of cells within the spinal cord, brainstem, and sensory ganglia. (frontiersin.org)
  • We further showed that stem cell-derived motor nerve cells, when grafted, sent projections to reach muscle targets, and stem cell grafts improved motor function in rat models with acute and chronic spinal cord injury. (utmb.edu)
  • Histological analyses of the lumbosacral spinal cord revealed that Bxt markedly delayed the early motor-neuron degeneration occurring at presymptomatic stages in ALS-transgenic mice. (frontiersin.org)
  • ALS is a relentlessly progressive neurodegenerative disease characterized by selective deterioration of cortical, brainstem, and spinal cord motor neurons. (brainstorm-cell.com)
  • Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder in which the loss of motor neurons in brain and spinal cord causes progressive weakness and paralysis, ultimately leading to death from respiratory failure 1 . (nature.com)
  • The characteristic muscle weakness occurs because of a progressive degeneration of the alpha motor neuron from anterior horn cells in the spinal cord. (medscape.com)
  • Liang H, Wu C, Deng Y, Zhu L, Zhang J, Gan W, Tang C, Xu R. Aldehyde Dehydrogenases 1A2 Expression and Distribution are Potentially Associated with Neuron Death in Spinal Cord of Tg(SOD1*G93A)1Gur Mice. (ijbs.com)
  • Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disease that selectively damages the motor neurons in cerebrum, brainstem and spinal cord [ 1 ]. (ijbs.com)
  • Neuroserpin was first identified as a protein secreted from the axons of dorsal root ganglion neurons (Stoeckli et al. (wikidoc.org)
  • Deciphering mechanically activated ion channels at the single-channel level in dorsal root ganglion neurons. (ohsu.edu)
  • Survival of motor neuron-related-splicing factor 30 is a protein that in humans is encoded by the SMNDC1 gene. (wikipedia.org)
  • Survival of Motor Neuron 1 Protein" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD. (harvard.edu)
  • This graph shows the total number of publications written about "Survival of Motor Neuron 1 Protein" by people in Harvard Catalyst Profiles by year, and whether "Survival of Motor Neuron 1 Protein" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Survival of Motor Neuron 1 Protein" by people in Profiles. (harvard.edu)
  • Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy. (harvard.edu)
  • Li et al demonstrated nuclear inclusions in the spinal motor neurons of patients with KD that stained positively for androgen receptor protein when immunohistochemical methods are used. (medscape.com)
  • Li B, Shi Y, Shu J, Gao J, Wu P and Tang S-J, 2013 Wingless-type mammary tumor virus integration site family, member 5A (Wnt5a) regulates human immunodeficiency virus type1 (HIV-1) envelope glycoprotein 120 (gp 120)-induced expression of pro-inflammatory cytokines via the Ca2+/calmodulin-dependent protein kinase II (caMKII) and c-JUN N-terminal kinase (JNK) signaling pathways. (utmb.edu)
  • a protein required for the differentiation of the set of six touch receptor neurons in this nematode. (embl.de)
  • Vertebrate insulin gene enhancer binding protein isl-1. (embl.de)
  • Isl-1 binds to one of the two cis-acting protein-binding domains of the insulin gene. (embl.de)
  • Vertebrate protein kinases LIMK-1 and LIMK-2. (embl.de)
  • Adeno-associated virus (AAV)-mediated gene therapy for Menkes disease, choroid plexus-targeted gene therapy for Alpha-mannosidosis, studies of motor neuron degeneration mediated by p97/valosin-containing protein (p97/VCP), and delineation of inherited disorders of ATP7A-related copper transport represent current main directions. (nationwidechildrens.org)
  • The ability of neurons to manage the burden of misfolded proteins and to resist their accumulation into insoluble protein deposits depends critically on the functioning of molecular chaperones. (biomedcentral.com)
  • Here, we show that human antigen R (HuR), an RNA binding protein which binds preferentially to AU-rich elements (AREs) and stabilizes mRNAs, regulates TNF-α-induced ICAM-1 expression in the MK2/HuR signaling pathway. (biomedcentral.com)
  • Consequently, knockdown of HuR by RNA interference in HPMECs, there was reduction in the stability of ICAM-1 mRNA and ICAM-1 protein level. (biomedcentral.com)
  • Our previous study showed that mitogen-activated protein kinase (MAPK) p38/ MAPK-activated protein kinase 2 (MK2) regulates the expression of ICAM-1 and IL-8 at the post-transcriptional level in HPMECs after TNF-α stimulation [ 4 ]. (biomedcentral.com)
  • Large international consortiums such as ENCODE (The Encyclopedia of DNA Elements) has shown that up to 80% of the genome is transcribed while only 1,5% of it is protein -coding sequences [ 1 ]. (biomedcentral.com)
  • HTT exon 1 with expanded polyQ was fused with either N-terminal or C-terminal fragments of Venus fluorescence protein and expressed in pharyngeal muscles and associated neurons, respectively, of C. elegans . (en-journal.org)
  • Körschgen H, Baeken M, Schmitt D, Nagel H, Behl C . Co-chaperone BAG3 enters autophagic pathway via its interaction with microtubule associated protein 1 light chain 3 beta. (unimedizin-mainz.de)
  • Transmissible spongiform encephalopathies (TSEs) are fatal neurodegenerative diseases that affect humans and animals and involve pathologic conversion of host cellular prion protein (PrP C ) to a disease-related isoform (PrP Sc ), as proposed in the protein-only hypothesis ( 1 ). (cdc.gov)
  • It involves loss of lower motor neurons supplying the limb and bulbar musculature. (medscape.com)
  • Muscles contain the synaptic connection between lower motor neurons and muscle fibers, i.e., the neuromuscular junction (NMJ), as well as specialized sensory nerve endings (e.g., muscle spindles). (frontiersin.org)
  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive weakness and muscle atrophy related to the loss of upper and lower motor neurons (MNs) without a curative treatment. (frontiersin.org)
  • KD is an inherited disorder characterized by degeneration of both motor and sensory neurons. (medscape.com)
  • Subsequent investigators emphasized the loss of larger dorsal root ganglion cells, thereby establishing a sensory neuron component. (medscape.com)
  • PNS injuries initiate transcriptional reprograming in both Schwann cells and sensory neurons that promotes regeneration. (biorxiv.org)
  • While the factors that initiate the transcriptional reprograming in Schwann cells are well characterized, the full range of stimuli that initiate this reprograming in sensory neurons remain elusive. (biorxiv.org)
  • By profiling sensory ganglia at single-cell resolution we show that this demyelination induces transcriptional reprogramming preferably in proprioceptive and Aβ RA-LTMR neurons. (biorxiv.org)
  • Transcriptional reprograming is assumed to be a cell autonomous response of sensory neurons to mechanical axonal injury. (biorxiv.org)
  • By identifying similar reprograming in non-injured, demyelinated neurons, our study suggests that this reprograming represents a non-cell autonomous transcriptional response of sensory neurons to the loss of axon-Schwann cell interactions. (biorxiv.org)
  • Schwann cell loss results in transcriptional reprograming in specific sensory neurons. (biorxiv.org)
  • Demyelination of the PNS dramatically affects sensory neurons and leads to loss of sensation, and in some patients, debilitating neuropathic pain. (biorxiv.org)
  • Many insects have an anterior, cephalic brain which is largely devoted to processing sensory information, and more posterior ganglia in the thorax and abdomen, which generate the motor commands that control, e.g. neck, wing and leg movements. (springer.com)
  • Ascending neurons provide sensory and motor feedback to the brain, whereas descending neurons carry sensory and motor-related information from the brain to central pattern generators in the posterior ganglia. (springer.com)
  • Descending neurons can thus initiate and modify behavior based on sensory input, and other higher order processing that takes place in the brain. (springer.com)
  • Indeed, orchestrating complex behavior using only 1100 descending neurons (Hsu and Bhandawat 2016 ), requires efficient integration of sensory input and motor output, as well as higher-order processing, such as learning. (springer.com)
  • We used single neuron recordings and controlled whisker deflections to examine responses of thalamocortical neurons to sensory stimulation in rat survivors of 9 min of asphyxial cardiac arrest incurred on post-natal day 17. (cdc.gov)
  • It may start with a range of non-motor symptoms such as disorders of the autonomic nervous system, olfaction, sleep, mood and subtle cognitive deterioration, before a degeneration of the dopamine producing cells in the upper brainstem (nigral substance) may manifest with motor parkinsonism, the clinical hallmark of this disease, and way before involvement of the neocortex induces dementia [ 5 ]. (biomedcentral.com)
  • Vertebrate homeobox proteins lim-1, lim-2 (lim-5) and lim3. (embl.de)
  • Rhombotin 1 (RBTN1 or TTG-1) and rhombotin-2 (RBTN2 or TTG-2) are proteins of about 160 amino acids whose genes are disrupted by chromosomal translocations in T-cell leukemia. (embl.de)
  • These painstaking methods are now being applied to investigating how molecules are moved around in neurons and how the proteins that characterize neurodegenerative diseases may disrupt one or more of these mechanisms. (alzforum.org)
  • We quantified for the first time the transport of the NF-kappa B subunit p65 using high-density single-particle tracking in combination with photoactivatable fluorescent proteins in living mouse hippocampal neurons. (uni-bielefeld.de)
  • We report here that the Fgf2 null mutant mice show an ∼40% decrease in cortical glutamatergic pyramidal neurons. (jneurosci.org)
  • In contrast to pyramidal neurons, cortical GABA interneurons are unaffected by the lack of Fgf2. (jneurosci.org)
  • Because the dorsal PVE was depleted of progenitors but the ganglionic eminences were not affected in Fgf2 −/− mice, we predicted that these mice should lack a population of pyramidal neurons, but their cortical GABA interneurons should have remained unchanged. (jneurosci.org)
  • PD is mainly recognized when first symptoms of motor parkinsonism (hypokinesia, bradykinesia, rigidity, tremor and the loss of postural reflexes) develop as the result of the loss of the majority of the dopaminergic neurons of the pars compacta of the substantia nigra with a striatal dopaminergic depletion of over 80% [ 6 ]. (biomedcentral.com)
  • 1st Edition - June 1, 2023. (lu.se)
  • 2016. Copper delivery to the CNS by CuATSM effectively treats motor neuron disease in SOD(G93A) mice co-expressing the Copper-Chaperone-for-SOD. . (oregonstate.edu)
  • 2016). Single-particle tracking uncovers dynamics of glutamate-induced retrograde transport of NF-kappa B p65 in living neurons. (uni-bielefeld.de)
  • Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening. (harvard.edu)
  • Cytoplasmic RNA granules in germ cells (polar and germinal granules), somatic cells (stress granules and processing bodies), and neurons (neuronal granules) have emerged as important players in the posttranscriptional regulation of gene expression. (rupress.org)
  • Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
  • The Kaler Laboratory is committed to dissecting the mechanisms and pathophysiology of inherited neurometabolic, motor neuron, and copper transport diseases and using the knowledge to improve health through rational remedies, including gene therapy. (nationwidechildrens.org)
  • SMA is caused by a mutation in the survival motor neuron gene. (medscape.com)
  • Various growth factors, cytokines, and prostaglandins upregulate HGF gene expression, including basic fibroblast growth factor, oncostatin M, hypoxia-inducible factor 1α and nuclear factor-κB (NF-κB) ( 9 ). (spandidos-publications.com)
  • We further showed that the expression of TDP-43 in transgenic Drosophila neurons induced ER stress and that co-expression of clusterin resulted in a dramatic clearance of mislocalized TDP-43 from motor neuron axons, partially rescued locomotor activity and significantly extended lifespan. (biomedcentral.com)
  • Spinal nerve transection (mechanical injury of axons) and demyelination (intact axons) induces similar transcriptional responses in DRG neurons. (biorxiv.org)
  • 1 μm) caliber axons. (biorxiv.org)
  • The caliber of axons is highly variable ranging down to 100 nm, aggravating the investigation of transport processes in neurites of living neurons using conventional light microscopy. (uni-bielefeld.de)
  • Defective muscle regeneration can severely affect re-innervation by motor axons, and neuromuscular junctions (NMJs) development, ultimately leading to skeletal muscle atrophy. (biomed.news)
  • Discoidin domain receptor regulates ensheathment, survival and caliber of peripheral axons. (ohsu.edu)
  • [ 12 , 13 ] In contrast to prior studies suggesting upper motor neuron involvement in KD based on transcranial magnetic stimulation studies, one study found differences in cortical excitability between KD and ALS. (medscape.com)
  • Because Fgf2 −/− mice lacked 45% of cortical neurons at birth, the progenitor loss is compensated only in part during neurogenesis. (jneurosci.org)
  • The decreased progenitor cell pool indicates that Fgf2 is required for the development of a subset of cortical progenitors within the dorsal PVE, which in turn may differentiate into cortical projection neurons. (jneurosci.org)
  • Retrograde transport of NF-kappa B from the synapse to the nucleus in neurons is mediated by the dynein/dynactin motor complex and can be triggered by synaptic activation. (uni-bielefeld.de)
  • [ 9 , 10 ] Loss of small motor neurons is not a typical finding in sporadic or non-hereditary amyotrophic lateral sclerosis (ALS). (medscape.com)
  • Amyotrophic lateral sclerosis (ALS) is the most common disease affecting the motor neurons (MNs) with an annual incidence that ranges from 2 to 4 cases per 100,000 people. (frontiersin.org)
  • Amyotrophic lateral sclerosis (ALS) is a highly progressive neurodegenerative disease, which usually leads to severe disability, respiratory dysfunction, and death in the affected patients within 3 to 5 years after the onset of symptoms [ 1 ]. (biomedcentral.com)
  • OBJECTIVE: To estimate amyotrophic lateral sclerosis (ALS) prevalence, 5-year survival, and explore factors associated with survival in a Medicare population. (cdc.gov)
  • Follicle-innervating Aδ-low threshold mechanoreceptive neurons form receptive fields through homotypic competition. (ohsu.edu)
  • We describe how the neurons can be identified based on their receptive field properties, and how they respond to moving targets, looming stimuli and to widefield optic flow. (springer.com)
  • Despite the overall increase in firing, by 6 weeks, thalamocortical neurons display degraded receptive fields, with decreased responses to adjacent whiskers. (cdc.gov)
  • This study demonstrates for the first time that glutamate stimulation leads to an increased mobility of single NF-kappa B p65 molecules in neurites of living hippocampal neurons. (uni-bielefeld.de)
  • Motor cortex analogue neurons in songbirds utilize Kv3 channels to generate ultranarrow spikes. (ohsu.edu)
  • 2007). Normally, the event-related muscle-specific responses to the transcranial magnetic stimulation of the motor cortex during observation of little and index finger movements are attributed to the mirror system function. (scholarpedia.org)
  • 2007) suggesting that the mirror system is adapted through the co-occurance of the motor code representation and the visual representation of the observed action in the cerebral cortex. (scholarpedia.org)
  • Complementary to this, monkey neurophysiology points to a neurally plausible model of mirror neuron system involving STS (the superior temporal sulcus that contains neurons lacking motor response but otherwise similar to mirror neurons, PF (a part of the inferior parietal cortex that contains mirror-like neurons) and F5 (ventral premotor area where mirror neurons were originally found), which operates in a Hebbian learning framework (Keysers and Perret 2004). (scholarpedia.org)
  • 2018. Nitration and Glycation Turn Mature NGF into a Toxic Factor for Motor Neurons: A Role for p75 and RAGE Signaling in ALS. . (oregonstate.edu)
  • The association can take place among the motor code, the somatosensory, vestibular , auditory and visual stimuli sensed when the movement is executed. (scholarpedia.org)
  • Our results highlight the importance of using several visual stimuli as the neurons can rarely be identified based on only one response characteristic. (springer.com)
  • The transcriptional response to demyelination among DRG neurons is specific to the large myelinated proprioceptive and Aβ RA-LTMR neurons. (biorxiv.org)
  • When the agent moves the motor code yielding the movement and the sensed stimuli are stored together in the auto-associative memory. (scholarpedia.org)
  • At a later time, a partial representation of the associated stimuli (e.g. vision) retrieves the whole memory item including the motor code, which when executed would yield the presented percept. (scholarpedia.org)
  • Importantly, whereas the anterior brain of an adult Drosophila contains about 100,000 neurons (Zheng et al. (springer.com)
  • We have also started a collaboration with virologists at UTMB through NeurolD Initiative by applying human neural stem cell-derived neurons and glia for mechanistic studies of viral encephalitis. (utmb.edu)
  • Gao J, Thonhoff JR, Dunn TJ and Wu P, 2013 Transplantation poses inherent risk to human fetal neural stem cell survival. (utmb.edu)
  • 1998). "Neuroserpin, a brain-associated inhibitor of tissue plasminogen activator is localized primarily in neurons. (wikidoc.org)
  • In vitro function of MNX1 (Motor neuron and pancreas homeobox 1) in bladder cancer cell was evaluated using MTT assay, colony formation assay, and bromodeoxyuridine incorporation assay. (biomedcentral.com)
  • high MNX1 expression levels correlated significantly with shorter 5-year overall and relapse-free survival in the bladder cancer patients. (biomedcentral.com)
  • Bxt significantly delayed motor function deterioration, ameliorated the loss of body weight, and extended mice survival up to 30% of the symptomatic period. (frontiersin.org)
  • 2012. Diapocynin and apocynin administration fails to significantly extend survival in G93A SOD1 ALS mice. . (oregonstate.edu)
  • We found that 48-72 hours after cardiac arrest, thalamocortical neurons demonstrate significantly elevated firing rates both during spontaneous activity and in response to whisker deflections. (cdc.gov)
  • The critical effects of acute duration iodomethane exposure are: (1) fetal losses in rabbits, (2) lesions in rat nasal epithelium, and (3) transient neurotoxicity in rats. (cdc.gov)
  • Importantly, however, the responses of descending neurons are not always directly deducible from the responses of their presumed pre-synaptic counterparts (Wu et al. (springer.com)
  • Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyQ) repeat in exon 1 of huntingtin (HTT). (en-journal.org)
  • MNX1 (motor neuron and pancreas homeobox 1), also known as HLXB9, is a homeodomain-containing transcription factor [ 13 ]. (biomedcentral.com)
  • The incidence of SMA is about 1 case in 15,000-20,000 (5-7 per 100,000) live births. (medscape.com)
  • In North Dakota, the incidence is about 1 case in 6720 (15 per 100,000) live births, the prevalence is 1.5 cases in 10,000, and the prevalence of persons with the Werdnig-Hoffman disease carrier state is 1 in 41. (medscape.com)
  • In England, the incidence is 1 case in 24,100 (4 per 100,000) live births. (medscape.com)
  • In Germany, the incidence of Werdnig-Hoffmann disease is 1 case in 10,202 (9 per 100,000) live births. (medscape.com)
  • [ 13 ] The incidence of SMA in Slovakia is 1 case in 5631 (18 per 100,000) live births (all types). (medscape.com)
  • However, the descending neurons, which connect the optic lobes with the motor command centers of the ventral nerve cord, remain less studied. (springer.com)
  • We discuss their similarities with previously published visual neurons, in the optic lobes and ventral nerve cord, and suggest that they can be classified as target-selective, looming sensitive and optic flow sensitive, based on these similarities. (springer.com)
  • In flies, three paired thoracic ganglia are fused with the abdominal ganglion to form the ventral nerve cord (Power 1948 ), which is connected to the anterior brain via the cervical connective containing both ascending and descending neurons. (springer.com)
  • In addition, they provide an understanding of the neurophysiology of visual neurons that are likely to affect behavior. (springer.com)
  • Toxicol 18:1-16. (cdc.gov)
  • J Toxicol Environ Health 2(Part B):1-30. (cdc.gov)
  • [ 8 ] The mechanism and timing of abnormal motor neuron death remain unknown. (medscape.com)
  • The histology in all these cases is similar, with TDP-43 present in cytoplasmic inclusions in glia and neurons, thus partially or totally cleared from the nucleus 21 , 22 . (nature.com)
  • It encodes the inactive pre-pro-HGF, a single chain of 728 amino acids (83 kDa), which includes a signal sequence ( 1 - 31 ), a heavy α chain (69 kDa), and a light β chain (34 kDa). (spandidos-publications.com)
  • Survival, weight, and neuromuscular function studies together with histological and biochemical analyses were performed. (frontiersin.org)
  • Moreover, ALS is the most common type of motor neuron disease (MND). (biomedcentral.com)
  • HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor, psychiatric, and cognitive dysfunction. (jci.org)
  • Taking creatine by mouth does not seem to slow disease progression or improve survival in people with ALS. (medlineplus.gov)
  • METHODS: A validated administrative claims algorithm was used to classify individual's ages 18-89 years at index date (first claim with a diagnosis of motor neuron disease or ALS between 1 January 2007 and 31 December 2011) with Medicare Advantage prescription drug coverage into mutually exclusive categories: ALS, no ALS, and possible ALS. (cdc.gov)
  • Ubiquinones are fat-soluble molecules with anywhere from 1 to 12 isoprene (5-carbon) units. (oregonstate.edu)
  • Actual therapy only symptomatically affects motor parkinsonism, though. (biomedcentral.com)
  • Retraction: Atorvastatin Improves Survival in Septic Rats: Effect on Tissue Inflammatory Pathway and on Insulin Signaling. (ksarsaid.net)
  • Susceptible neuronal populations also include inhibitory neurons in the thalamic Reticular Nucleus. (cdc.gov)