Search results for "romu"

showing 10 items of 445 documents

Profilin 1 delivery tunes cytoskeletal dynamics toward CNS axon regeneration

2020

After trauma, regeneration of adult CNS axons is abortive, causing devastating neurologic deficits. Despite progress in rehabilitative care, there is no effective treatment that stimulates axonal growth following injury. Using models with different regenerative capacities, followed by gain- and loss-of-function analysis, we identified profilin 1 (Pfn1) as a coordinator of actin and microtubules (MTs), powering axonal growth and regeneration. In growth cones, Pfn1 increased actin retrograde flow, MT growth speed, and invasion of filopodia by MTs, orchestrating cytoskeletal dynamics toward axonal growth. In vitro, active Pfn1 promoted MT growth in a formin-dependent manner, whereas localizati…

0301 basic medicineNervous systemGrowth ConesNeuromuscular Junctionmacromolecular substancesGlial scar03 medical and health sciencesMiceProfilins0302 clinical medicineTransduction GeneticmedicineAnimalsAxonGrowth coneCytoskeletonSpinal Cord InjuriesMice KnockoutbiologyRegeneration (biology)General MedicineGenetic TherapyDependovirusSciatic NerveCell biologyNerve Regeneration030104 developmental biologymedicine.anatomical_structurenervous system030220 oncology & carcinogenesisForminsbiology.proteinSciatic nerveFilopodiaResearch Article
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Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial)

2017

IntroductionRecent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug. A pharmacological action recently discovered is its ability to modulate the synthesis of proteins by the activation of translational factors preventing misfolded protein accumula…

0301 basic medicineOncologyPathologyamyotrophic lateral sclerosisamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; adrenergic alpha-2 receptor agonist s; age of onset; amyotrophic lateral sclerosis; disease progression; double-blind method; endoplasmic reticulum stress; guanabenz; humans; italy; medical futility; neuroprotective agents; proteostasis deficienciesamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Medicine (all)randomized clinical trial guanabenzHelsinki declaration0302 clinical medicineProtocolAdrenergic alpha-2 Receptor Agonists1506Amyotrophic lateral sclerosisAge of OnsetGuanabenzMedicine (all)amyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein responseNeurodegenerationamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response;amyotrophic lateral sclerosis; guanabenz; motor neurone disease; neuromuscular disease; randomized clinical trial; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis DeficienciesGeneral Medicineunfolded protein responseEndoplasmic Reticulum StressRiluzoleNeuroprotective AgentsNeurologyTolerabilityItalyDisease Progression1713GuanabenzMedical Futilitymedicine.drugmedicine.medical_specialtyamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis Deficiencies; Medicine (all)Neuroprotection03 medical and health sciencesmotor neurone diseaseDouble-Blind MethodInternal medicinemedicineHumansProteostasis Deficienciesbusiness.industryAmbientaleneuromuscular diseaserandomized clinical trialmedicine.diseaseClinical trial030104 developmental biologybusiness030217 neurology & neurosurgery
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Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.

2018

AbstractFriedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identificatio…

0301 basic medicineStatistics and ProbabilityEpigenomicsSmall RNAData DescriptorAtaxiaMitochondrial diseaseLibrary and Information SciencesBioinformaticsEducation03 medical and health sciences0302 clinical medicinemicroRNAMedicineHumansCirculating MicroRNAPathologicalCause of deathbusiness.industrySequence Analysis RNAHypertrophic cardiomyopathyNeuromuscular diseasemedicine.diseasePhenotypeComputer Science Applications030104 developmental biologyFriedreich AtaxiaNext-generation sequencingmedicine.symptomStatistics Probability and Uncertaintybusiness030217 neurology & neurosurgeryInformation SystemsScientific data
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The Amino Acid Transporter JhI-21 Coevolves with Glutamate Receptors, Impacts NMJ Physiology, and Influences Locomotor Activity in Drosophila Larvae

2015

AbstractChanges in synaptic physiology underlie neuronal network plasticity and behavioral phenomena, which are adjusted during development. The Drosophila larval glutamatergic neuromuscular junction (NMJ) represents a powerful synaptic model to investigate factors impacting these processes. Amino acids such as glutamate have been shown to regulate Drosophila NMJ physiology by modulating the clustering of postsynaptic glutamate receptors and thereby regulating the strength of signal transmission from the motor neuron to the muscle cell. To identify amino acid transporters impacting glutmatergic signal transmission, we used Evolutionary Rate Covariation (ERC), a recently developed bioinforma…

0301 basic medicinejuvenile-hormonemelanogasterAmino Acid Transport Systemsextracellular glutamateprotein-protein interactionsPhysiology[ SDV.BA ] Life Sciences [q-bio]/Animal biologySynaptic Transmissionin-vivo0302 clinical medicinePostsynaptic potentialDrosophila Proteinsgenesglial xctMotor NeuronsAnimal biologyMultidisciplinary[SDV.BA]Life Sciences [q-bio]/Animal biologyGlutamate receptorBiological Evolutiondrosophilemedicine.anatomical_structureReceptors GlutamateLarvaExcitatory postsynaptic potentialDrosophila[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Drosophila ProteinSignal Transductionevolutionary rate covariationNeuromuscular JunctionPresynaptic TerminalsNeurotransmissionBiologyMotor ActivityArticlesynaptic vesicle03 medical and health sciencesGlutamatergicneuromuscular-junctionBiologie animalemedicineAnimalsAmino acid transporterevolutionary rate covariation;protein-protein interactions;juvenile-hormone;neuromuscular-junction;synaptic vesicle;in-vivo;extracellular glutamate;glial xct;melanogaster;genesfungiNeurosciencesExcitatory Postsynaptic PotentialsMotor neuron030104 developmental biology[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Neurons and CognitionMutation030217 neurology & neurosurgeryScientific Reports
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Corticoperipheral neuromuscular disconnection in obstructive sleep apnoea.

2020

Abstract The roles of central nervous mechanisms and cortical output in obstructive sleep apnoea remain unclear. We addressed corticomuscular coupling between cortical sensorimotor areas and lower facial motor units as a mechanistic pathway and as a possible surrogate marker of corticoperipheral motor control in obstructive sleep apnoea. In this exploratory cross-sectional retrospective study, we analysed EEG (C3 and C4 leads) and chin EMG from polysomnography recordings in 86 participants (22 females; age range: 26–81 years): 27 with mild (respiratory disturbance index = 5–15 events/h), 21 with moderate (15–30 events/h) and 23 with severe obstructive sleep apnoea (>30 events/h) and 15 cont…

0301 basic medicinemedicine.medical_specialtyobstructive sleep apnoeacorticalPolysomnography03 medical and health sciences0302 clinical medicineInternal medicineRespiratory disturbance indexmedicinecouplingSleep Stagesmedicine.diagnostic_testbusiness.industryGeneral EngineeringMotor controlmedicine.diseasemotorMotor unitObstructive sleep apneaAutonomic nervous system030104 developmental biologyBreathingCardiologyOriginal Articleneuromuscularbusiness030217 neurology & neurosurgeryBrain communications
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Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

2021

Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…

0303 health sciencesHeterogeneous groupbusiness.industryGeneral Neurosciencebiomarkersrare diseasesinherited neuromuscular disordersReviewBioinformaticsAsymptomaticlcsh:RC321-57103 medical and health sciences0302 clinical medicineSerum biomarkersmedicineBiomarker (medicine)Settore MED/26 - Neurologiamedicine.symptombusinesslcsh:Neurosciences. Biological psychiatry. Neuropsychiatry030217 neurology & neurosurgery030304 developmental biologyBrain Sciences
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JCB887052 Supplemetal Material - Supplemental material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in m…

2019

Supplemental material, JCB887052 Supplemetal Material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in mice using micro-CT and angiography by Vanessa Weyer, Máté E Maros, Andrea Kronfeld, Stefanie Kirschner, Christoph Groden, Clemens Sommer, Yasemin Tanyildizi, Martin Kramer and Marc A Brockmann in Journal of Cerebral Blood Flow & Metabolism

110320 Radiology and Organ ImagingFOS: Clinical medicineFOS: Biological sciencesMedicineCell Biology110305 Emergency Medicine110306 EndocrinologyBiochemistry69999 Biological Sciences not elsewhere classified110904 Neurology and Neuromuscular DiseasesNeuroscience
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JCB905206 Supplemental Material - Supplemental material for Meprin β: A novel regulator of blood–brain barrier integrity

2020

Supplemental material, JCB905206 Supplemental Material for Meprin β: A novel regulator of blood–brain barrier integrity by Markus Gindorf, Steffen E Storck, Anke Ohler, Franka Scharfenberg, Christoph Becker-Pauly and Claus U Pietrzik in Journal of Cerebral Blood Flow & Metabolism

110320 Radiology and Organ ImagingFOS: Clinical medicineFOS: Biological sciencesMedicineCell Biology110305 Emergency Medicine110306 EndocrinologyBiochemistry69999 Biological Sciences not elsewhere classified110904 Neurology and Neuromuscular DiseasesNeuroscience
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sj-pdf-2-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-2-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research

111199 Nutrition and Dietetics not elsewhere classifiedCardiology170199 Psychology not elsewhere classified111799 Public Health and Health Services not elsewhere classified110604 Sports MedicineFOS: Health sciences110306 Endocrinology110308 Geriatrics and Gerontology111099 Nursing not elsewhere classified111708 Health and Community Services160807 Sociological Methodology and Research Methods111702 Aged Health Care111403 Paediatrics110904 Neurology and Neuromuscular Diseases110203 Respiratory Diseases110315 OtorhinolaryngologyFOS: Clinical medicine110319 Psychiatry (incl. Psychotherapy)FOS: SociologyFOS: Psychology110599 Dentistry not elsewhere classified110323 Surgery110305 Emergency Medicine111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified111299 Oncology and Carcinogenesis not elsewhere classified110314 Orthopaedics
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sj-pdf-1-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-1-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research

111199 Nutrition and Dietetics not elsewhere classifiedCardiology170199 Psychology not elsewhere classified111799 Public Health and Health Services not elsewhere classified110604 Sports MedicineFOS: Health sciences110306 Endocrinology110308 Geriatrics and Gerontology111099 Nursing not elsewhere classified111708 Health and Community Services160807 Sociological Methodology and Research Methods111702 Aged Health Care111403 Paediatrics110904 Neurology and Neuromuscular Diseases110203 Respiratory Diseases110315 OtorhinolaryngologyFOS: Clinical medicine110319 Psychiatry (incl. Psychotherapy)FOS: SociologyFOS: Psychology110599 Dentistry not elsewhere classified110323 Surgery110305 Emergency Medicine111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified111299 Oncology and Carcinogenesis not elsewhere classified110314 Orthopaedics
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