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https://www.readbyqxmd.com/read/28916199/erk-and-rock-functionally-interact-in-a-signaling-network-that-is-compensationally-upregulated-in-spinal-muscular-atrophy
#1
Niko Hensel, Svetlana Baskal, Lisa Marie Walter, Hella Brinkmann, Manuela Gernert, Peter Claus
Spinal Muscular Atrophy (SMA) is a motoneuron disease caused by low levels of functional survival of motoneuron protein (SMN). Molecular disease mechanisms downstream of functional SMN loss are still largely unknown. Previous studies suggested an involvement of Rho kinase (ROCK) as well as the extracellular signal-regulated kinases (ERK) pathways in the pathomechanism. Both pathways are bi-directionally linked and inhibit each other. Thus, we hypothesize that both pathways regulate SMA pathophysiology in vivo in a combined manner rather than acting separately...
September 12, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28912425/predictive-models-of-minimal-hepatic-encephalopathy-for-cirrhotic-patients-based-on-large-scale-brain-intrinsic-connectivity-networks
#2
Yun Jiao, Xun-Heng Wang, Rong Chen, Tian-Yu Tang, Xi-Qi Zhu, Gao-Jun Teng
We aimed to find the most representative connectivity patterns for minimal hepatic encephalopathy (MHE) using large-scale intrinsic connectivity networks (ICNs) and machine learning methods. Resting-state fMRI was administered to 33 cirrhotic patients with MHE and 43 cirrhotic patients without MHE (NMHE). The connectivity maps of 20 ICNs for each participant were obtained by dual regression. A Bayesian machine learning technique, called Graphical Model-based Multivariate Analysis, was applied to determine ICN regions that characterized group differences...
September 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28911257/fatigue-in-multiple-sclerosis-the-contribution-of-resting-state-functional-connectivity-reorganization
#3
Alvino Bisecco, Federica Di Nardo, Renato Docimo, Giuseppina Caiazzo, Alessandro d'Ambrosio, Simona Bonavita, Rocco Capuano, Leonardo Sinisi, Mario Cirillo, Fabrizio Esposito, Gioacchino Tedeschi, Antonio Gallo
OBJECTIVES: To investigate resting-state functional connectivity (RS-FC) of the default-mode network (DMN) and of sensorimotor network (SMN) network in relapsing remitting (RR) multiple sclerosis (MS) patients with fatigue (F) and without fatigue(NF). METHODS: In all, 59 RRMS patients and 29 healthy controls (HC) underwent magnetic resonance imaging (MRI) protocol including resting-state fMRI (RS-fMRI). Functional connectivity of the DMN and SMN was evaluated by independent component analysis (ICA)...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28904430/immunohistochemical-analysis-of-anti-phospholipase-a2-receptor-antibody-on-renal-biopsies-a-single-tertiary-care-center-study
#4
A Gudipati, M S Uppin, R K Kalidindi, G Swarnalatha, U Das, G Taduri, S B Raju, L Rajasekhar, Aruna K Prayaga
Membranous nephropathy (MN) is one of the common cause of nephrotic syndrome. The discrimination between primary MN (iMN) and secondary MN is essential because of treatment implications. Immunohistochemical (IHC) evaluation with the help of anti-phospholipase A2 receptor (PLA2R) antibody helps in tissue evaluation of iMN, which is an easy, cost-effective, and pathologist-friendly technique. The study included 82 cases of MN over a period of 3 years. IHC using PLA2R antibody was performed on iMN and secondary cases with adequate tissue...
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28901021/optimisation-of-chemotherapy-and-radiotherapy-for-untreated-hodgkin-lymphoma-patients-with-respect-to-second-malignant-neoplasms-overall-and-progression-free-survival-individual-participant-data-analysis
#5
REVIEW
Jeremy Franklin, Dennis A Eichenauer, Ingrid Becker, Ina Monsef, Andreas Engert
BACKGROUND: Efficacy and the risk of severe late effects have to be well-balanced in treatment of Hodgkin lymphoma (HL). Late adverse effects include secondary malignancies which often have a poor prognosis. To synthesise evidence on the risk of secondary malignancies after current treatment approaches comprising chemotherapy and/or radiotherapy, we performed a meta-analysis based on individual patient data (IPD) from patients treated for newly diagnosed HL. OBJECTIVES: We investigated several questions concerning possible changes in the risk of secondary malignancies when modifying chemotherapy or radiotherapy (omission of radiotherapy, reduction of the radiation field, reduction of the radiation dose, use of fewer chemotherapy cycles, intensification of chemotherapy)...
September 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28899515/the-water-extract-of-liuwei-dihuang-possesses-multi-protective-properties-on-neurons-and-muscle-tissue-against-deficiency-of-survival-motor-neuron-protein
#6
Yu-Ting Tseng, Yuh-Jyh Jong, Wei-Fang Liang, Fang-Rong Chang, Yi-Ching Lo
BACKGROUND: Deficiency of survival motor neuron (SMN) protein, which is encoded by the SMN1 and SMN2 genes, induces widespread splicing defects mainly in spinal motor neurons, and leads to spinal muscular atrophy (SMA). Currently, there is no effective treatment for SMA. Liuwei dihuang (LWDH), a traditional Chinese herbal formula, possesses multiple therapeutic benefits against various diseases via modulation of the nervous, immune and endocrine systems. Previously, we demonstrated water extract of LWDH (LWDH-WE) protects dopaminergic neurons and improves motor activity in models of Parkinson's disease...
October 15, 2017: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/28890001/association-between-resting-state-brain-network-topological-organization-and-creative-ability-evidence-from-a-multiple-linear-regression-model
#7
Bingqing Jiao, Delong Zhang, Aiying Liang, Bishan Liang, Zengjian Wang, Junchao Li, Yuxuan Cai, Mengxia Gao, Zhenni Gao, Song Chang, Ruiwang Huang, Ming Liu
Previous studies have indicated a tight linkage between resting-state functional connectivity of the human brain and creative ability. This study aimed to further investigate the association between the topological organization of resting-state brain networks and creativity. Therefore, we acquired resting-state fMRI data from 22 high-creativity participants and 22 low-creativity participants (as determined by their Torrance Tests of Creative Thinking scores). We then constructed functional brain networks for each participant and assessed group differences in network topological properties before exploring the relationships between respective network topological properties and creative ability...
September 7, 2017: Biological Psychology
https://www.readbyqxmd.com/read/28879433/cbp-mediated-smn-acetylation-modulates-cajal-body-biogenesis-and-the-cytoplasmic-targeting-of-smn
#8
Vanesa Lafarga, Olga Tapia, Sahil Sharma, Rocio Bengoechea, Georg Stoecklin, Miguel Lafarga, Maria T Berciano
The survival of motor neuron (SMN) protein plays an essential role in the biogenesis of spliceosomal snRNPs and the molecular assembly of Cajal bodies (CBs). Deletion of or mutations in the SMN1 gene cause spinal muscular atrophy (SMA) with degeneration and loss of motor neurons. Reduced SMN levels in SMA lead to deficient snRNP biogenesis with consequent splicing pathology. Here, we demonstrate that SMN is a novel and specific target of the acetyltransferase CBP (CREB-binding protein). Furthermore, we identify lysine (K) 119 as the main acetylation site in SMN...
September 6, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28871993/predicted-rate-of-secondary-malignancies-following-adjuvant-proton-versus-photon-radiation-therapy-for-thymoma
#9
J Vogel, L Lin, L A Litzky, A T Berman, C B Simone
PURPOSE: Thymic malignancies are the most common tumors of the anterior mediastinum. The benefit of adjuvant radiation therapy for stage II disease remains controversial, and patients treated with adjuvant radiation therapy are at risk of late complications, including radiation-induced secondary malignant neoplasms (SMNs), that may reduce the overall benefit of treatment. We assess the risk of predicted SMNs following adjuvant proton radiation therapy compared with photon radiation therapy after resection of stage II thymic malignancies to determine whether proton therapy improves the risk-benefit ratio...
October 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28854583/non-equivalence-of-anti-m%C3%A3-llerian-hormone-automated-assays-clinical-implications-for-use-as-a-companion-diagnostic-for-individualised-gonadotrophin-dosing
#10
Stamatina Iliodromiti, Barbara Salje, Didier Dewailly, Craig Fairburn, Renato Fanchin, Richard Fleming, Hang Wun Raymond Li, Krzysztof Lukaszuk, Ernest Hung Yu Ng, Pascal Pigny, Teddy Tadros, Joseph van Helden, Ralf Weiskirchen, Scott M Nelson
STUDY QUESTION: Can anti-Müllerian hormone (AMH) automated immunoassays (Elecsys® and Access) be used interchangeably as a companion diagnostic for individualisation of follitropin delta dosing? SUMMARY ANSWER: The Access assay gives systematically higher AMH values than the Elecsys® assay which results in over 29% of women being misclassified to a different follitropin delta dose. WHAT IS KNOWN ALREADY: Follitropin delta is the first gonadotrophin to be licenced with a companion diagnostic, the Roche Elecsys® AMH Plus assay...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28852871/smn-regulation-in-sma-and-in-response-to-stress-new-paradigms-and-therapeutic-possibilities
#11
REVIEW
Catherine E Dominguez, David Cunningham, Dawn S Chandler
Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA). SMA is a pediatric disease characterized by spinal motor neuron degeneration. SMA exhibits several levels of severity ranging from early antenatal fatality to only mild muscular weakness, and disease prognosis is related directly to the amount of functional SMN protein that a patient is able to express. Current therapies are being developed to increase the production of functional SMN protein; however, understanding the effect that natural stresses have on the production and function of SMN is of critical importance to ensuring that these therapies will have the greatest possible effect for patients...
August 29, 2017: Human Genetics
https://www.readbyqxmd.com/read/28830824/a-structural-motor-network-correlates-with-motor-function-and-not-impairment-post-stroke
#12
Sue Peters, Katie P Wadden, Kathryn S Hayward, Jason L Neva, Angela M Auriat, Lara A Boyd
Combining structural and functional magnetic resonance imaging may provide insight into how residual motor networks contribute to motor outcomes post-stroke. The purpose of this study was to examine whether a structural motor network (SMN), generated with fMRI guided diffusion-based tractography, relates to motor function post-stroke. Twenty-seven individuals with mild to moderate upper limb impairment post stroke underwent diffusion magnetic resonance imaging. A bilateral motor network mask guided white matter tractography for each participant...
August 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28826912/edaravone-is-a-candidate-agent-for-spinal-muscular-atrophy-in-vitro-analysis-using-a-human-induced-pluripotent-stem-cells-derived-disease-model
#13
Shiori Ando, Michinori Funato, Kazuki Ohuchi, Tsubasa Kameyama, Satoshi Inagaki, Junko Seki, Chizuru Kawase, Kazuhiro Tsuruma, Masamitsu Shimazawa, Hideo Kaneko, Hideaki Hara
Spinal muscular atrophy (SMA) is an intractable disease characterized by a progressive loss of spinal motor neurons, which leads to skeletal muscle weakness and atrophy. Currently, there are no curative agents for SMA, although it is understood to be caused by reduced levels of survival motor neuron (SMN) protein. Additionally, why reduced SMN protein level results in selective apoptosis in spinal motor neurons is still not understood. Our purpose in this study was to evaluate the therapeutic potential of edaravone, a free radical scavenger, by using induced pluripotent stem cells from an SMA patient (SMA-iPSCs) and to address oxidative stress-induced apoptosis in spinal motor neurons...
August 18, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28815863/decoding-fmri-events-in-sensorimotor-motor-network-using-sparse-paradigm-free-mapping-and-activation-likelihood-estimates
#14
Francisca M Tan, César Caballero-Gaudes, Karen J Mullinger, Siu-Yeung Cho, Yaping Zhang, Ian L Dryden, Susan T Francis, Penny A Gowland
Most functional MRI (fMRI) studies map task-driven brain activity using a block or event-related paradigm. Sparse paradigm free mapping (SPFM) can detect the onset and spatial distribution of BOLD events in the brain without prior timing information, but relating the detected events to brain function remains a challenge. In this study, we developed a decoding method for SPFM using a coordinate-based meta-analysis method of activation likelihood estimation (ALE). We defined meta-maps of statistically significant ALE values that correspond to types of events and calculated a summation overlap between the normalized meta-maps and SPFM maps...
August 16, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28811488/deregulation-of-zpr1-causes-respiratory-failure-in-spinal-muscular-atrophy
#15
Naresh K Genabai, Annapoorna Kannan, Saif Ahmad, Xiaoting Jiang, Kanchan Bhatia, Laxman Gangwani
Spinal muscular atrophy (SMA) is caused by the low levels of survival motor neuron (SMN) protein and is characterized by motor neuron degeneration and muscle atrophy. Respiratory failure causes death in SMA but the underlying molecular mechanism is unknown. The zinc finger protein ZPR1 interacts with SMN. ZPR1 is down regulated in SMA patients. We report that ZPR1 functions downstream of SMN to regulate HoxA5 levels in phrenic motor neurons that control respiration. Spatiotemporal inactivation of Zpr1 gene in motor neurons down-regulates HoxA5 and causes defects in the function of phrenic motor neurons that results in respiratory failure and perinatal lethality in mice...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808928/regulation-of-survival-motor-neuron-protein-by-the-nuclear-factor-kappa-b-pathway-in-mouse-spinal-cord-motoneurons
#16
Saravanan Arumugam, Stefka Mincheva-Tasheva, Ambika Periyakaruppiah, Sandra de la Fuente, Rosa M Soler, Ana Garcera
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration. Since SMN protein level is critical to disease onset and severity, analysis of the mechanisms involved in SMN stability is one of the central goals of SMA research. Here, we describe the role of several members of the NF-κB pathway in regulating SMN in motoneurons. NF-κB is one of the main regulators of motoneuron survival and pharmacological inhibition of NF-κB pathway activity also induces mouse survival motor neuron (Smn) protein decrease...
August 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28799578/nusinersen-antisense-oligonucleotide-to-increase-smn-protein-production-in-spinal-muscular-atrophy
#17
D M Paton
Patients with spinal muscular atrophy (SMA) have an autosomal recessive disease that limits their ability to produce survival motor neuron (SMN) protein in the CNS resulting in progressive wasting of voluntary muscles. Detailed studies over several years have demonstrated that phosphorothioate and 2'-O-methoxyethyl- modified antisense oligonucleotides (ASOs) targeting the ISS-N1 site increase SMN2 exon 7 inclusion, thus increasing levels of SMN protein in a dose- and time-dependent manner in liver, kidney and skeletal muscle, and CNS tissues only when administered intrathecally...
June 2017: Drugs of Today
https://www.readbyqxmd.com/read/28775379/tia1-is-a-gender-specific-disease-modifier-of-a-mild-mouse-model-of-spinal-muscular-atrophy
#18
Matthew D Howell, Eric W Ottesen, Natalia N Singh, Rachel L Anderson, Joonbae Seo, Senthilkumar Sivanesan, Elizabeth M Whitley, Ravindra N Singh
Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C (+/+)) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monitor the role of disease-modifying factors over a long time. T-cell-restricted intracellular antigen 1 (TIA1) regulates SMN exon 7 splicing. TIA1 is reported to be downregulated in obese patients, although it is not known if the effect is gender-specific...
August 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28768735/therapeutic-strategies-for-spinal-muscular-atrophy-smn-and-beyond
#19
REVIEW
Melissa Bowerman, Catherina G Becker, Rafael J Yáñez-Muñoz, Ke Ning, Matthew J A Wood, Thomas H Gillingwater, Kevin Talbot
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1 A second duplicated gene, SMN2, produces very little but sufficient functional protein for survival. Therapeutic strategies to increase SMN are in clinical trials, and the first SMN2-directed antisense oligonucleotide (ASO) therapy has recently been licensed...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28766049/usnrnp-biogenesis-mechanisms-and-regulation
#20
REVIEW
Oliver J Gruss, Rajyalakshmi Meduri, Maximilian Schilling, Utz Fischer
Macromolecular complexes composed of proteins or proteins and nucleic acids rather than individual macromolecules mediate many cellular activities. Maintenance of these activities is essential for cell viability and requires the coordinated production of the individual complex components as well as their faithful incorporation into functional entities. Failure of complex assembly may have fatal consequences and can cause severe diseases. While many macromolecular complexes can form spontaneously in vitro, they often require aid from assembly factors including assembly chaperones in the crowded cellular environment...
August 1, 2017: Chromosoma
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