keyword
MENU ▼
Read by QxMD icon Read
search

survival of motor neuron

keyword
https://www.readbyqxmd.com/read/28734458/rett-like-severe-encephalopathy-caused-by-a-de%C3%A2-novo-grin2b-mutation-is-attenuated-by-d-serine-dietary-supplement
#1
David Soto, Mireia Olivella, Cristina Grau, Judith Armstrong, Clara Alcon, Xavier Gasull, Macarena Gómez de Salazar, Esther Gratacòs-Batlle, David Ramos-Vicente, Víctor Fernández-Dueñas, Francisco Ciruela, Àlex Bayés, Carlos Sindreu, Anna López-Sala, Àngels García-Cazorla, Xavier Altafaj
BACKGROUND: N-Methyl-D-aspartate receptors (NMDARs) play pivotal roles in synaptic development, plasticity, neural survival, and cognition. Despite recent reports describing the genetic association between de novo mutations of NMDAR subunits and severe psychiatric diseases, little is known about their pathogenic mechanisms and potential therapeutic interventions. Here we report a case study of a 4-year-old Rett-like patient with severe encephalopathy carrying a missense de novo mutation in GRIN2B(p...
June 16, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28732762/effect-of-class-ii-hdac-inhibition-on-glutamate-transporter-expression-and-survival-in-sod1-als-mice
#2
Andrea Lapucci, Leonardo Cavone, Daniela Buonvicino, Roberta Felici, Elisabetta Gerace, Clemens Zwergel, Sergio Valente, Antonello Mai, Alberto Chiarugi
Transcriptional deregulation emerges as a key pathogenetic mechanism in ALS pathogenesis, and non-class-specific histone deacetylase (HDACs) inhibitors proved of therapeutic efficacy in preclinical models of ALS. When tested in patients, however, these drugs failed, probably because of a lack of selectivity toward pathogenetic HDACs. Here, we studied the effects of MC1568, an inhibitor of Class-II HDACs which have been reported to contribute to ALS pathogenesis. We focused on transcriptional regulation of glutamate transporter EAAT2, whose reduced expression may contribute to motor neuron degeneration in ALS...
July 18, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28729444/an-atoh1-s193a-phospho-mutant-allele-causes-hearing-deficits-and-motor-impairment
#3
Wei Rose Xie, Hsin-I Jen, Michelle L Seymour, Szu-Ying Yeh, Fred A Pereira, Andrew K Groves, Tiemo J Klisch, Huda Y Zoghbi
Atoh1 is a basic helix-loop-helix (bHLH) transcription factor that is essential for the genesis, survival, and maturation of a variety of neuronal and non-neuronal cell populations, including those involved in proprioception, interoception, balance, respiration, and hearing. Such diverse functions require fine regulation at the transcriptional and protein levels. Here we show that serine 193 (S193) is phosphorylated in Atoh1's bHLH domain in vivo Knock-in mice of both sexes bearing a GFP-tagged phospho-dead S193A allele on a null background (Atoh1(S193A/lacZ) ) exhibit mild cerebellar foliation defects, motor impairments, and also partial pontine nucleus migration defects, cochlear hair cell degeneration, and profound hearing loss...
July 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#4
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28728573/splicing-arrays-reveal-novel-rbm10-targets-including-smn2-pre-mrna
#5
Leslie C Sutherland, Philippe Thibault, Mathieu Durand, Elvy Lapointe, Jose M Knee, Ariane Beauvais, Irina Kalatskaya, Sarah C Hunt, Julie J Loiselle, Justin G Roy, Sarah J Tessier, Gustavo Ybazeta, Lincoln Stein, Rashmi Kothary, Roscoe Klinck, Benoit Chabot
BACKGROUND: RBM10 is an RNA binding protein involved in message stabilization and alternative splicing regulation. The objective of the research described herein was to identify novel targets of RBM10-regulated splicing. To accomplish this, we downregulated RBM10 in human cell lines, using small interfering RNAs, then monitored alternative splicing, using a reverse transcription-PCR screening platform. RESULTS: RBM10 knockdown (KD) provoked alterations in splicing events in 10-20% of the pre-mRNAs, most of which had not been previously identified as RBM10 targets...
July 20, 2017: BMC Molecular Biology
https://www.readbyqxmd.com/read/28725658/mesenchymal-stem-cells-overexpressing-interleukin-10-promote-neuroprotection-in-experimental-acute-ischemic-stroke
#6
Masataka Nakajima, Chikako Nito, Kota Sowa, Satoshi Suda, Yasuhiro Nishiyama, Aki Nakamura-Takahashi, Yuko Nitahara-Kasahara, Kiwamu Imagawa, Tohru Hirato, Masayuki Ueda, Kazumi Kimura, Takashi Okada
Interleukin (IL)-10 is a contributing factor to neuroprotection of mesenchymal stem cell (MSC) transplantation after ischemic stroke. Our aim was to increase therapeutic effects by combining MSCs and ex vivo IL-10 gene transfer with an adeno-associated virus (AAV) vector using a rat transient middle cerebral artery occlusion (MCAO) model. Sprague-Dawley rats underwent 90 min MCAO followed by intravenous administration of MSCs alone or IL-10 gene-transferred MSCs (MSC/IL-10) at 0 or 3 hr after ischemia reperfusion...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28714328/neuronal-expression-of-the-mitochondrial-protein-prohibitin-confers-profound-neuroprotection-in-a-mouse-model-of-focal-cerebral-ischemia
#7
Anja Kahl, Corey J Anderson, Liping Qian, Henning Voss, Giovanni Manfredi, Costantino Iadecola, Ping Zhou
The mitochondrial protein prohibitin (PHB) has emerged as an important modulator of neuronal survival in different injury modalities . We previously showed that viral gene transfer of PHB protects CA1 neurons from delayed neurodegeneration following transient forebrain ischemia through mitochondrial mechanisms. However, since PHB is present in all cell types, it is not known if its selective expression in neurons is protective, and if the protection occurs also in acute focal ischemic brain injury, the most common stroke type in humans...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28710685/pericytes-extend-survival-of-als-sod1-mice-and-induce-the-expression-of-antioxidant-enzymes-in-the-murine-model-and-in-ipscs-derived-neuronal-cells-from-an-als-patient
#8
Giuliana Castello Coatti, Miriam Frangini, Marcos C Valadares, Juliana Plat Gomes, Natalia O Lima, Natale Cavaçana, Amanda F Assoni, Mayra V Pelatti, Alexander Birbrair, Antonio Carlos Pedroso de Lima, Julio M Singer, Francisco Marcelo M Rocha, Giovani Loiola Da Silva, Mario Sergio Mantovani, Lucia Inês Macedo-Souza, Merari F R Ferrari, Mayana Zatz
Amyotrophic Lateral Sclerosis (ALS) is one of the most common adult-onset motor neuron disease causing a progressive, rapid and irreversible degeneration of motor neurons in the cortex, brain stem and spinal cord. No effective treatment is available and cell therapy clinical trials are currently being tested in ALS affected patients. It is well known that in ALS patients, approximately 50% of pericytes from the spinal cord barrier are lost. In the central nervous system, pericytes act in the formation and maintenance of the blood-brain barrier, a natural defense that slows the progression of symptoms in neurodegenerative diseases...
July 14, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28705229/brugada-syndrome-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report
#9
Anusha Battineni, Rohit Gummi, Naresh Mullaguri, Raghav Govindarajan
BACKGROUND: Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis...
July 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28699371/minocycline-attenuates-high-mobility-group-box-1-translocation-microglial-activation-and-thalamic-neurodegeneration-after-traumatic-brain-injury-in-postnatal-day-17-rats
#10
Dennis William Simon, Rajesh K Aneja, Henry Alexander, Michael J Bell, Hulya Bayir, Patrick M Kochanek, Robert S B Clark
In response to cell injury the danger signal high mobility group box-1 (HMGB) is released, activating macrophages by binding pattern recognition receptors. We investigated the role of the anti-inflammatory drug minocycline in attenuating HMGB1 translocation, microglial activation, and neuronal injury in a rat model of pediatric traumatic brain injury (TBI). Postnatal day 17 Sprague-Dawley rats were subjected to moderate-severe controlled cortical impact (CCI). Animals were randomized to treatment with minocycline (90 mg/kg, i...
July 12, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28698835/historical-perspective-of-cell-transplantation-in-parkinson-s-disease
#11
REVIEW
Alejandra Boronat-García, Magdalena Guerra-Crespo, René Drucker-Colín
Cell grafting has been considered a therapeutic approach for Parkinson's disease (PD) since the 1980s. The classical motor symptoms of PD are caused by the loss of dopaminergic neurons in the substantia nigra pars compacta, leading to a decrement in dopamine release in the striatum. Consequently, the therapy of cell-transplantation for PD consists in grafting dopamine-producing cells directly into the brain to reestablish dopamine levels. Different cell sources have been shown to induce functional benefits on both animal models of PD and human patients...
June 24, 2017: World Journal of Transplantation
https://www.readbyqxmd.com/read/28694434/laquinimod-treatment-in-the-r6-2-mouse-model
#12
Gisa Ellrichmann, Alina Blusch, Oluwaseun Fatoba, Janine Brunner, Liat Hayardeny, Michael Hayden, Dominik Sehr, Konstanze F Winklhofer, Carsten Saft, Ralf Gold
The transgenic mouse model R6/2 exhibits Huntington's disease (HD)-like deficits and basic pathophysiological similarities. We also used the pheochromocytoma-12 (PC12)-cell-line-model to investigate the effect of laquinimod on metabolic activity. Laquinimod is an orally administered immunomodulatory substance currently under development for the treatment of multiple sclerosis (MS) and HD. As an essential effect, increased levels of BDNF were observed. Therefore, we investigated the therapeutic efficacy of laquinimod in the R6/2 model, focusing on its neuroprotective capacity...
July 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28694091/combined-intranasal-nerve-growth-factor-and-ventricle-neural-stem-cell-grafts-prolong-survival-and-improve-disease-outcome-in-amyotrophic-lateral-sclerosis-transgenic-mice
#13
Shi-Jiang Zhong, Yan-Hua Gong, Yan-Chen Lin
Amyotrophic lateral sclerosis (ALS) is a fatal disease that selectively involves motor neurons. Neurotrophic factor supplementation and neural stem cell (NSC) alternative therapy have been used to treat ALS. The two approaches can affect each other in their pathways of action, and there is a possibility for synergism. However, to date, there have been no studies demonstrating the effects of combined therapy in the treatment of ALS. In this study, for the first time, we adopted a method involving the intranasal administration of nerve growth factor combined with lateral ventricle NSC transplantation using G93A-SOD1 transgenic mice as experimental subjects to explore the treatment effect of this combined therapy in ALS...
July 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28690439/grasshopper-dcmd-an-undergraduate-electrophysiology-lab-for-investigating-single-unit-responses-to-behaviorally-relevant-stimuli
#14
Dieu My T Nguyen, Mark Roper, Stanislav Mircic, Robert M Olberg, Gregory J Gage
Avoiding capture from a fast-approaching predator is an important survival skill shared by many animals. Investigating the neural circuits that give rise to this escape behavior can provide a tractable demonstration of systems-level neuroscience research for undergraduate laboratories. In this paper, we describe three related hands-on exercises using the grasshopper and affordable technology to bring neurophysiology, neuroethology, and neural computation to life and enhance student understanding and interest...
2017: Journal of Undergraduate Neuroscience Education: JUNE: a Publication of FUN, Faculty for Undergraduate Neuroscience
https://www.readbyqxmd.com/read/28687604/calpain-inhibition-is-protective-in-machado-joseph-disease-zebrafish-due-to-induction-of-autophagy
#15
Maxinne Watchon, Kristy C Yuan, Nick Mackovski, Adam J Svahn, Nicholas J Cole, Claire Goldsbury, Silke Rinkwitz, Thomas S Becker, Garth A Nicholson, Angela S Laird
The neurodegenerative disease Machado-Joseph disease (MJD), also known as spinocerebellar ataxin-3, affects neurons of the brain and spinal cord, disrupting control of the movement of muscles. We have successfully established the first transgenic zebrafish (Danio rerio) model of MJD, which express human ataxin-3 protein containing either 23 glutamines (23Q, wild-type) or 84Q (MJD-causing), within neurons. Phenotypic characterization of the zebrafish (male and female) revealed that the ataxin-3-84Q zebrafish have decreased survival compared to ataxin-3-23Q and develop ataxin-3 neuropathology, ataxin-3 cleavage fragments and motor impairment...
July 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28687401/pathophysiological-role-of-prostaglandin-e2-induced-up-regulation-of-the-ep2-receptor-in-motor-neuron-like-nsc-34-cells-and-lumbar-motor-neurons-in-als-model-mice
#16
Yasuhiro Kosuge, Hiroko Miyagishi, Yuki Yoneoka, Keiko Yoneda, Hiroshi Namgo, Kumiko Ishige, Yoshihisa Ito
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by selective degeneration of motor neurons. The primary triggers for motor neuronal death are still unknown, but inflammation is considered to be an important factor contributing to the pathophysiology of ALS both clinically and in ALS models. Prostaglandin E2 (PGE2) and its corresponding four E-prostanoid receptors play a pivotal role in the degeneration of motor neurons in human and transgenic models of ALS. It has also been shown that PGE2-EP2 signaling in glial cells (astrocytes or microglia) promotes motor neuronal death in G93A mice...
July 4, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28684086/modifier-genes-moving-from-pathogenesis-to-therapy
#17
Edward R B McCabe
This commentary will focus on how we can use our knowledge about the complexity of human disease and its pathogenesis to identify novel approaches to therapy. We know that even for single gene Mendelian disorders, patients with identical mutations often have different presentations and outcomes. This lack of genotype-phenotype correlation led us and others to examine the roles of modifier genes in the context of biological networks. These investigations have utilized vertebrate and invertebrate model organisms...
May 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28666950/intracerebral-injections-of-dna-nanoparticles-encoding-for-a-therapeutic-gene-provide-partial-neuroprotection-in-an-animal-model-of-neurodegeneration
#18
D M Yurek, U Hasselrot, O Sesenoglu-Laird, L Padegimas, M J Cooper
This study reports proof of concept for administering compacted DNA nanoparticles (DNPs) intracerebrally as a means to protect against neurotoxin-induced neurodegeneration of dopamine (DA) neurons. In this study we used DNPs that encoded for human glial cell line-derived neurotrophic factor (hGDNF); GDNF is a potent neurotrophic factor for DA neurons. Intracerebral injections of DNPs into the striatum and/or substantia nigra were performed 1 week before treatment with a neurotoxin. We observed that the number of surviving DA cells, the density of DA fiber terminals and recovery of motor function were greater in animals injected with GDNF-encoding DNPs than in control animals receiving DNPs encoding for an inert reporter gene...
June 27, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/28666328/amyotrophic-lateral-sclerosis-related-mutant-superoxide-dismutase-1-aggregates-inhibit-14-3-3-mediated-cell-survival-by-sequestration-into-the-junq-compartment
#19
Ju-Hwang Park, Hae Rim Jang, In Young Lee, Hye Kyung Oh, Eui-Ju Choi, Hyangshuk Rhim, Seongman Kang
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor neuron loss in the spinal cord and brain. Mutations in the superoxide dismutase 1 (SOD1) gene have been linked to familial ALS. To elucidate the role of SOD1 mutations in ALS, we investigated 14-3-3, a crucial regulator of cell death that was identified in patients with familial ALS. In a transgenic mouse model (SOD1-G93A) of ALS, 14-3-3 co-localized with mutant SOD1 aggregates and was more insoluble in the spinal cords of mutant SOD1 transgenic mice than in those of wild-type mice...
June 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28659169/the-novel-compound-pbt434-prevents-iron-mediated-neurodegeneration-and-alpha-synuclein-toxicity-in-multiple-models-of-parkinson-s-disease
#20
David I Finkelstein, Jessica L Billings, Paul A Adlard, Scott Ayton, Amelia Sedjahtera, Colin L Masters, Simon Wilkins, David M Shackleford, Susan A Charman, Wojciech Bal, Izabela A Zawisza, Ewa Kurowska, Andrew L Gundlach, Sheri Ma, Ashley I Bush, Dominic J Hare, Philip A Doble, Simon Crawford, Elisabeth Cl Gautier, Jack Parsons, Penny Huggins, Kevin J Barnham, Robert A Cherny
Elevated iron in the SNpc may play a key role in Parkinson's disease (PD) neurodegeneration since drug candidates with high iron affinity rescue PD animal models, and one candidate, deferirpone, has shown efficacy recently in a phase two clinical trial. However, strong iron chelators may perturb essential iron metabolism, and it is not yet known whether the damage associated with iron is mediated by a tightly bound (eg ferritin) or lower-affinity, labile, iron pool. Here we report the preclinical characterization of PBT434, a novel quinazolinone compound bearing a moderate affinity metal-binding motif, which is in development for Parkinsonian conditions...
June 28, 2017: Acta Neuropathologica Communications
keyword
keyword
42502
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"