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Showing 1 to 20 of 21 for “"Spinal Muscular Atrophy (SMA)"”.
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ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency of the survival motor neuron (SMN) protein. It is characterised by the progressive loss of α-motor neurons (MNs), leading to muscle weakness, atrophy, and in the worst cases death. …
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MOTONEURON MAINTENANCE DEFECTS AND NON-CELL AUTONOMOUS CONTRIBUTIONS BY SCHWANN CELLS IN ZEBRAFISH MUTANT AND MORPHANT MODELS FOR SPINAL MUSCULAR ATROPHY
… deficiency results in motoneuron (MN) loss in Spinal Muscular Atrophy (SMA) patients. SMN is encoded by SMN1 and SMN2 which differ in a C6T nucleotide leading to differential splicing of exon 7. My novel zebrafish smn2 mutant established that C6T transition in hSMN2 disrupts an exonic splicing …
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Identifying modifier genes in SMA model mice
Spinal Muscular Atrophy (SMA) involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease, it affects 1 in 5000-10000 newborns, one of the leading genetic causes of infant death in USA. Mutations in the SMN1, UBA1, DYNC1H1 and VAPB genes …
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Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital
Spinal muscular atrophy (SMA) is an autosomal recessive disorder of anterior horn cell degeneration which results in symmetrical muscle weakness that affects multiple systems. This study was conducted to determine the burden of disease of SMA on children under the neuromuscular service at Red Cross …
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SPINAL MUSCULAR ATROPHY ORGANOIDS REVEAL DEVELOPMENTAL DEFECTS RESCUED BY ANTISENSE OLIGONUCLEOTIDES TREATMENT
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in the SMN1 gene. Recent therapies have significantly modified SMA natural course, but treatment efficacy remains variable and the reasons beyond this variability are still largely unexplored. Identifying pre-symptomatic …
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Examine the role of minor splicing pathway in spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder mainly caused by deletions or mutations of one gene, Survival Motor Neuron (SMN). SMN is crucial in splicing processes for proper gene expression. Previous studies showed a significant decrease in the levels of minor splicing (U12 …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major focus of this study was to …
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Spinal Muscular Atrophy: Evidence of a Multi-System Disease
Spinal muscular atrophy (SMA) is a devastating recessive neurological disorder thought to be affecting primarily the motor neurons. As such, paralysis, motor weakness and death ensue. While SMA is most commonly seen in infants and children, it can span all ages. Its genetic etiology revolves around …
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Tracking individual disease-trajectory of patients with neuromuscular disorders (Duchenne muscular dystrophy and spinal muscular atrophy)
Neuromuscular diseases represent a diverse group of complex genetic disorders. In conditions such as Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA), progressive motor impairment limiting activities of daily life is a common and central clinical feature. Over the last 15 years, …
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Gene therapy in mouse models of spinal muscular atrophy :
Spinal Muscular Atrophy (SMA), an autosomal recessive neuromuscular disorder, is the leading genetic cause of infant mortality. SMA is caused by the functional, homozygous loss of the Survival Motor Neuron-1 (SMN1) gene which encodes for the ubiquitously expressed Survival Motor Neuron (SMN) …
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The pathophysiology of spinal muscular atrophy
… and pathophysiology of motor dysfunction in spinal muscular atrophy (SMA) using clinical, epidemiological, neurophysiological and genetic studies. Natural history studies confirmed the unique clinical course, atypical for a neurodegenerative disease, in which progression appeared most rapid …
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Essential Protein Factors in pre-mRNA splicing : A Structural Study by Nuclear Magnetic Resonance Spectroscopy
… proteins. Sm proteins are common components of small nuclear ribonucleoprotein particles (snRNPs), which are assembled by a protein complex that contains SMN. The structure of the SMN Tudor domain exhibits a five stranded ?-barrel, which resembles the fold of Sm proteins. The Tudor domain of SMN …
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Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in a mouse model of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disease with an incidence of around one in every 10,000 live births. In most patients, SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), resulting in insufficient production of full-length, functional SMN protein. …
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Design, synthesis, and analysis of conjugated activators for modulation of alternative splicing
… including Cystic Fibrosis, breast cancer, and Spinal Muscular Atrophy (SMA). SMA is a neurodegenerative disorder caused by the loss of survival of motor neuron 1 (SMN1) gene. A nearly identical copy of the gene, SMN2, encodes an identical protein but contains a C-->T transition on the ESE of …
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SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS
ABSTRACT Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, driven by homozygous loss of the SMN1 gene and reduced SMN protein. Although disease-modifying therapies such as Nusinersen, Risdiplam, and Onasemnogene abeparvovec have markedly improved survival and motor …
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Investigating neurodegenerative diseases with small molecule modulators
… of specific aspects of these disease states. Small molecule screening in these cell culture models is a powerful method for identifying novel small molecule modulators of these disease phenotypes. Mechanistic studies of these modulators can reveal vital insights into the cellular pathways …
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Novel RNA Targets of the Spinal Muscular Atrophy Protein
… motor neuron (SMN) protein, the disease gene in spinal muscular atrophy (SMA). SMN is part of a macromolecular protein complex and catalyzes the assembly of a heptameric core of Sm proteins onto small nuclear RNAs (snRNAs) to form spliceosomal snRNPs required for RNA splicing. The Sm and Sm-like …
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Translational defects in multiple tissues from the Smn2B/- mouse model of SMA.
Spinal muscular atrophy (SMA) is a devastating disorder caused by deletions and mutations in the survival of motor neuron (SMN1) gene and is marked by motor neuron loss and muscle weakness. While its genetic basis is clear, the underlying molecular mechanisms remain elusive. Decreased levels of the …
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Investigating modifiers that can regulate selective vulnerability in mouse models of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a childhood form of motor neuron disease. It is characterised by the loss of lower motor neurons and muscle weakening and atrophy of associated muscles. Motor neurons (MNs) are the primary pathological target of SMA, but it has long been shown that breakdown of …
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A multi-level approach of gene expression data analysis to investigate translatome dynamics across multiple tissues, stages, and mouse models of SMA
Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disease, which, before the approval of therapies, was the leading genetic cause of infant mortality. The primary features of this pathology are progressive muscle weakness and atrophy, due to the degeneration of α-motor …
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