Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 13 of 13 for “"SMN1"”.
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Identifying modifier genes in SMA model mice
… causes of infant death in USA. Mutations in the SMN1, UBA1, DYNC1H1 and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. Mutations in SMN1 (Motor Neuron 1) mainly causes SMA (Autosomal recessive inheritance). SMN1 gene …
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Gene therapy in mouse models of spinal muscular atrophy :
… homozygous loss of the Survival Motor Neuron-1 (SMN1) gene which encodes for the ubiquitously expressed Survival Motor Neuron (SMN) protein. Here we utilize SMA mouse models to demonstrate that self-complementary Adeno-associated virus encoding SMN1 (scAAV-SMN) is a promising therapeutic for the …
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Design, synthesis, and analysis of conjugated activators for modulation of alternative splicing
… 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 exon 7, disrupting SR protein binding and resulting in substantial exon 7 skipping. Significant research efforts have …
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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
… 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 enhancer to cause aberrant splicing. The smn2 mutant …
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SPINAL MUSCULAR ATROPHY ORGANOIDS REVEAL DEVELOPMENTAL DEFECTS RESCUED BY ANTISENSE OLIGONUCLEOTIDES TREATMENT
… 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 SMA features is crucial to define …
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Translational defects in multiple tissues from the Smn2B/- mouse model of SMA.
… 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 survival of motor neuron (SMN) protein, encoded by the SMN1 gene, are …
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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
… qPCR reactions. SNP detection of homozygous SMN1 deletions in SMA, CNV detection in the 22q11.2 critical region, and quantification of the SCID biomarker, T-cell receptor excision circles (TRECs) and CMV were all required for disease confirmation. SMA and 22q11.2 gene deletions were …
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Spinal Muscular Atrophy: Evidence of a Multi-System Disease
… the homozygous deletion or mutation of the SMN1 gene, whose product (SMN protein) has critical and ubiquitous roles in mRNA splicing, amongst various other functions in mRNA metabolism. As such, SMN depletion in other non-neuronal cells type is likely to have physiological repercussions, and …
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Untersuchungen zum molekularen Pathomechanismus der SMA durch Anaylse der Smn-Interaktionspartner hnRNP-R und hnRNP-Q
… der telomeren Kopie des survival motor neuron (SMN1) Gens auf dem humanen Chromosom 5 verursacht. Anders als bei Mäusen, welche nur ein Smn Gen haben, gibt es beim Menschen eine zweite Kopie (SMN2). Das Genprodukt dieser zweiten Kopie wird am C-Terminus bevorzugt alternativ gespleißt. Es bringt …
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Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in a mouse model of spinal muscular atrophy
… mutations in the survival motor neuron 1 gene (SMN1), resulting in insufficient production of full-length, functional SMN protein. The SMN protein is dynamically regulated during development, where high levels of SMN expression during embryogenesis undergo a significant reduction after birth, …
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SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS
… 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 outcomes, they are not curative, and many patients continue to exhibit …
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RNA Helicase 1 interacts with an ABCRNAi Transporter: Genetic Interactions with haf-6
… and also associates with BRCA1, CREBbp or SMN1 and the RNA polymerase II complex, phosphorylated histones (H2AFX). RHA affects a number of different biological activities, including CRD-mediated mRNA stabilization, RNA splicing, translation, and transcription. It also has been discovered …
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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
… or mutations in the Survival Motor Neuron gene (Smn1), which induce reduced levels of the SMN protein. Since 1999, this disease has been primarily associated with splicing defects caused by loss of SMN protein due to its role in ribonucleoparticle biogenesis. However, further research revealed …