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.
Results
Showing 1 to 20 of 35 for “"SMN"”.
-
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 …
-
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 …
-
Biochemical and Functional Characterization of Novel RNA-binding Proteins Interacting with SMN in Motor Neuron-derived Cells
… of the Survival of Motor Neuron protein (SMN). While a lot is known about the role that SMN plays in the cytoplasmic assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), it remains a crucial question in the field to gain a better understanding of what specific/distinct …
-
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, …
-
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 …
-
Intelligent Neural Network Control System Design and FPGA Based Implementation
… effectiveness of single multiplicative neuron (SMN) in place of traditional multi-layer perceptron (MLP) is investigated. The objectives were to (i) verify the feasibility of SMN based control systems, (ii) quantitatively compare the performance of SMN and MLP based systems, (iii) determine the …
-
Nonlinear Controller Design and Implementation for a Magnetic Levitation System
… (MLP) and the single multiplicative neuron (SMN), are investigated in this work. A novel form of ANN, namely, single multiplicative neuron (SMN), is proposed in place of the more traditional multi-layer perceptron (MLP). SMN derives its name from the single neuron computation model in …
-
MOTONEURON MAINTENANCE DEFECTS AND NON-CELL AUTONOMOUS CONTRIBUTIONS BY SCHWANN CELLS IN ZEBRAFISH MUTANT AND MORPHANT MODELS FOR SPINAL MUSCULAR ATROPHY
Survival Motoneuron (SMN) protein 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 …
-
Examine the role of minor splicing pathway in spinal muscular atrophy
… 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 intron) snRNPs in SMA mice and a restoration of a U12 intron-containing gene partially rescued …
-
Novel RNA Targets of the Spinal Muscular Atrophy Protein
… such a chaperone is the survival 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 …
-
Biogenese der spleißosomalen UsnRNPs
… Studien zum "survival motor neurons"-Protein (SMN), dem Krankheitsgenprodukt der spinalen Muskelatrophie. Antikörper gegen SMN und seinem Bindungspartner Gemin2 inhibierten in Xenopus laevis Oocyten die Ausformung von RNP-Untereinheiten des Spleißosoms - den U snRNPs und nährten den Verdacht, …
-
Untersuchungen zur Biogenese spleißosomaler UsnRNPs und ihrer Bedeutung für die Pathogenese der SMA
… an funktionellem Survival Motor Neuron Protein (SMN) verursacht. Eine Funktion von SMN liegt in der Biogenese spleißosomaler UsnRNPs (U-rich small nuclear ribonucleoprotein particles). Diese Arbeit zeigt in einem SMA-Modell in Hela-Zellkultur, dass der SMN-Mangel zu einer reduzierten de …
-
Commonalities between SMA and ALS: investigation of ribosome heterogeneity and translational defects
… revealed that the survival motor neuron protein (SMN), which is involved in SMA, is a RAP and that the RBPs TAR DNA binding protein 43 (TDP43) and Matrin3 (MATR3), involved in ALS, are associated with the translation machinery. In addition, translatome changes are commonly observed in both …
-
Risk and Risk Factors For Colorectal Subsequent Malignancies In Survivors of Childhood Cancer: A Report From The Childhood Cancer Survivor Study
… for colorectal subsequent malignant neoplasms (SMNs); notably, these cancers are amenable to screening. To identify at-risk survivors that may benefit from early screening, descriptive and risk factor analyses were performed to ascertain risk factors for colorectal SMN in childhood cancer …
-
ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
… 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. SMN is a ubiquitously expressed protein that is involved in spliceosome assembly. A decrease in …
-
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 …
-
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 …
-
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 …
-
Investigating modifiers that can regulate selective vulnerability in mouse models of spinal muscular atrophy
… analysis of NMJ pathology in 20 muscles from the Smn²ᴮ/⁻ mouse model of SMA and subsequently compared pattern of selective vulnerability between other mouse models of SMA. This revealed a more profound motor neuron cell body loss in thoracic and upper lumbar spinal cord segments and higher levels …
-
Essential Protein Factors in pre-mRNA splicing : A Structural Study by Nuclear Magnetic Resonance Spectroscopy
… domain of the human Survival of Motor Neuron (SMN) protein and its molecular interaction with the spliceosomal Sm 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 …
Page 1 of 2