المؤلفون: Jasmin Barman-Aksözen, Paulina C´wiek, Vijay B. Bansode, Frank Koentgen, Judith Trüb, Pawel Pelczar, Paolo Cinelli, Xiaoye Schneider-Yin, Daniel Schümperli, Elisabeth I. Minder

المصدر: Disease Models & Mechanisms, Vol 10, Iss 3, Pp 225-233 (2017)

مصطلحات موضوعية: Liver dysfunction, Mouse model, Photosensitivity, Protoporphyrin IX (PPIX), Rare disease, Splicing defect, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/10/3/225; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/82087eb4bf224a71a8c100020e20c040

المؤلفون: Andreas Marti, Lavinia Furrer, Philipp Odermatt, Daniel Schümperli, Judith Trüb, Roger Fricker

المصدر: Molecular Therapy
Odermatt, Philipp; Trüb, Judith; Furrer, Lavinia; Fricker, Roger; Marti, Andreas; Schümperli, Daniel (2016). Somatic therapy of a mouse SMA model with a U7 snRNA gene correcting SMN2 splicing. Molecular therapy, 24(10), pp. 1797-1805. Nature Publishing Group 10.1038/mt.2016.152 <http://dx.doi.org/10.1038/mt.2016.152>

مصطلحات موضوعية: 0301 basic medicine, Small RNA, Transgene, Genetic enhancement, RNA Splicing, Genetic Vectors, Mice, Transgenic, SMN1, Biology, Adenoviridae, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Mice, RNA, Small Nuclear, Drug Discovery, 540 Chemistry, medicine, Genetics, Animals, Gene, Molecular Biology, Pharmacology, Myocardium, Spinal muscular atrophy, Genetic Therapy, medicine.disease, Molecular biology, Cell biology, Survival of Motor Neuron 2 Protein, Disease Models, Animal, 030104 developmental biology, Liver, RNA splicing, Molecular Medicine, 570 Life sciences, biology, Original Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51fc7260c6536591c49e30b7f16bef05
http://europepmc.org/articles/PMC5112044

المؤلفون: Judith Trüb, Sonia Verp, Rachel Nlend Nlend, Isabelle Barde, Kathrin Meyer, Didier Trono, Daniel Schümperli, Marc-David Ruepp, Julien Marquis, Hans Imboden

المصدر: HUMAN MOLECULAR GENETICS
Meyer, Kathrin; Marquis, Julien; Trüb, Judith; Nlend Nlend, Rachel; Verp, Sonia; Ruepp, Marc-David; Imboden, Hans; Barde, Isabelle; Trono, Didier; Schümperli, Daniel (2009). Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Human molecular genetics, 18(3), pp. 546-555. Oxford: Oxford University Press 10.1093/hmg/ddn382 <http://dx.doi.org/10.1093/hmg/ddn382>

مصطلحات موضوعية: Silent mutation, Genetically modified mouse, Exon-7, Survival, Somatic cell, RNA Splicing, Smn2 Gene, Molecular Sequence Data, Expression, Mice, Transgenic, SMN1, Biology, Transgenic Mice, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Mice, 0302 clinical medicine, Motor-Neuron Gene, RNA, Small Nuclear, Genetics, medicine, Animals, Humans, Deletions, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, General Medicine, Spinal muscular atrophy, Exons, Genetic Therapy, medicine.disease, SMA, 3. Good health, Survival of Motor Neuron 2 Protein, RNA splicing, Cancer research, Defects, 030217 neurology & neurosurgery, Lentiviral Vector, Enhancer

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef0cb110afcc1a35e3ef091be23fb9f9
http://hmg.oxfordjournals.org/content/18/3/546.long

المؤلفون: Judith Trüb, Daniel Schümperli, Anuja Neve, Smita Saxena

المصدر: Neve, Anuja Vilas; Trüb, Judith; Saxena, Smita; Schümperli, Daniel (2016). Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice. Molecular and cellular neuroscience, 70, pp. 30-41. Elsevier 10.1016/j.mcn.2015.11.007 <http://dx.doi.org/10.1016/j.mcn.2015.11.007>
Mol Cell Neuroscience
Molecular and Cellular Neuroscience

مصطلحات موضوعية: Proteomics, 0301 basic medicine, Pathology, medicine.medical_specialty, AIFM1, Diaphragm, Neuromuscular Junction, Muscle Proteins, Biology, Neuromuscular junction, Muscular Atrophy, Spinal, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, Perisynaptic schwann cells, medicine, Animals, Molecular Biology, Motor Neurons, Intracellular Signaling Peptides and Proteins, Apoptosis Inducing Factor, Muscle weakness, Cell Biology, Spinal muscular atrophy, LIM Domain Proteins, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, FHL1, Diaphragm (structural system), Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, nervous system, 570 Life sciences, biology, Schwann Cells, Synaptic Vesicles, medicine.symptom, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e1081acf6bc2c1c3c4795d5e3fb9c5