المؤلفون: Jana R. Jenquin, Alana P. O’Brien, Kiril Poukalov, Yidan Lu, Jesus A. Frias, Hannah K. Shorrock, Jared I. Richardson, Hormoz Mazdiyasni, Hongfen Yang, Robert W. Huigens, III, David Boykin, Laura P.W. Ranum, John Douglas Cleary, Eric T. Wang, J. Andrew Berglund

المصدر: iScience, Vol 25, Iss 5, Pp 104198- (2022)

مصطلحات موضوعية: Biochemistry, Small molecule, Molecular physiology, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004222004680; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/58816a4f83314c1bbc07ac1339b064d0

المؤلفون: Marianne Goodwin, Apoorva Mohan, Ranjan Batra, Kuang-Yung Lee, Konstantinos Charizanis, Francisco José Fernández Gómez, Sabiha Eddarkaoui, Nicolas Sergeant, Luc Buée, Takashi Kimura, H. Brent Clark, Joline Dalton, Kenji Takamura, Sebastien M. Weyn-Vanhentenryck, Chaolin Zhang, Tammy Reid, Laura P.W. Ranum, John W. Day, Maurice S. Swanson

المصدر: Cell Reports, Vol 12, Iss 7, Pp 1159-1168 (2015)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124715007895; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/c1f149d4c87f43cf89365b6092f6e218

المؤلفون: Shu Guo, Lien Nguyen, Laura P.W. Ranum

المصدر: Curr Opin Neurobiol

مصطلحات موضوعية: ran GTP-Binding Protein, General Neuroscience, Animals, Humans, Proteins, Neurodegenerative Diseases, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc53ef9f841e5929c916eb1c971798f
https://doi.org/10.1016/j.conb.2021.11.001

المؤلفون: Xiaofeng Gu, Jeffrey Richman, Peter Langfelder, Nan Wang, Shasha Zhang, Monica Bañez-Coronel, Huei-Bin Wang, Lucia Yang, Lalini Ramanathan, Linna Deng, Chang Sin Park, Christopher R. Choi, Jeffrey P. Cantle, Fuying Gao, Michelle Gray, Giovanni Coppola, Gillian P. Bates, Laura P.W. Ranum, Steve Horvath, Christopher S. Colwell, X. William Yang

المصدر: Neuron, vol 110, iss 7

مصطلحات موضوعية: HD, Huntington's Disease, Chromosomes, Artificial, Bacterial, striatum, Neurodegenerative, Transgenic, Mice, transcriptionopathy, 2.1 Biological and endogenous factors, Psychology, BACHD, Huntingtin, Aetiology, nuclear inclusions, Neurons, CAG repeat, Huntingtin Protein, General Neuroscience, Bacterial, aggregation, mutant huntingtin, Nuclear Proteins, transcriptional dysregulation, Huntington Disease, Artificial, BAC transgenic, Neurological, motor deficits, Cognitive Sciences, Huntington’s disease, Biotechnology, Mice, Transgenic, Nerve Tissue Proteins, BAC-CAG, Chromosomes, muscleblind, Rare Diseases, RAN translation, Genetics, Animals, Humans, knockin, Neurology & Neurosurgery, Animal, RNA foci, Neurosciences, Brain Disorders, Disease Models, Animal, instability, Disease Models, RNA-seq, Trinucleotide Repeat Expansion, polyglutamine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b04693f7ac3c7c68110e9b998475b45c
https://escholarship.org/uc/item/52k97025

المؤلفون: Hailey Olafson, Amrutha Pattamatta, Jared I Richardson, J. Andrew Berglund, Tao Zu, Marina M. Scotti, Lauren A. Laboissonniere, Laura P.W. Ranum, Lien Nguyen, Eric T. Wang

المصدر: Hum Mol Genet

مصطلحات موضوعية: 0301 basic medicine, Transgene, Mice, Transgenic, Penetrance, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Mutation, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Alternative splicing, General Medicine, Phenotype, Alternative Splicing, Disease Models, Animal, 030104 developmental biology, Frontotemporal Dementia, General Article, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e3e6be06d716eb32b912ed1db42ecd
https://doi.org/10.1093/hmg/ddaa279

المؤلفون: Olgert Bardhi, Lien Nguyen, Jian Li, Shu Guo, Paramita Chakrabarty, Tao Zu, Avery Engelbrecht, Nahum Sonenberg, Solaleh Khoramian Tusi, Daniel A. Ryskamp, Laura P.W. Ranum, Todd E. Golde, Kelena Klippel

المصدر: Proceedings of the National Academy of Sciences. 117:18591-18599

مصطلحات موضوعية: Drug, Multidisciplinary, viruses, media_common.quotation_subject, Translation (biology), Disease, Biology, environment and public health, Protein kinase R, Metformin, C9orf72, Ran, medicine, Cancer research, Protein kinase A, medicine.drug, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b22146c983a6344cf35a26c5f85056be
https://doi.org/10.1073/pnas.2005748117

المؤلفون: Jihae Shin, Curtis A. Nutter, Maurice S. Swanson, S. H. Subramony, Łukasz J. Sznajder, Franjo Ivankovic, Laura P.W. Ranum, Katarzyna Taylor, Marina M. Scotti, Faaiq N. Aslam

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, RNA splicing, Science, General Physics and Astronomy, Thymus Gland, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Transcriptome, 03 medical and health sciences, chemistry.chemical_compound, Mice, Young Adult, 0302 clinical medicine, Gene expression, MBNL1, Animals, Humans, Myotonic Dystrophy, RNA-Seq, lcsh:Science, Gene, Transcription factor, Aged, Aged, 80 and over, Mice, Knockout, Multidisciplinary, DNA Repeat Expansion, RNA, RNA-Binding Proteins, General Chemistry, Middle Aged, Introns, Cell biology, DNA-Binding Proteins, Thymocyte, 030104 developmental biology, chemistry, Knockout mouse, Female, lcsh:Q, 030217 neurology & neurosurgery, Neurological disorders, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc90d288f0f17a4c8240a3fcc2811460
http://link.springer.com/article/10.1038/s41467-020-15962-x

المؤلفون: Luhan Ni, Janghoo Lim, Neal G. Ravindra, Kristen Kim, Harry T. Orr, Laura P.W. Ranum, Changwoo Lee, Jennifer C. Yoon, Phyllis L. Faust, Billy Nguyen, Fatema Haidery, Hannah Ro, David van Dijk, Kimberly P. Luttik, Leon Tejwani, Vikram G. Shakkottai, John T Gionco

مصطلحات موضوعية: Spinocerebellar Ataxia Type 1, education.field_of_study, Cell type, Cerebellum, Cell, Neurodegeneration, Population, Disease, Biology, medicine.disease, Pathogenesis, medicine.anatomical_structure, medicine, education, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c49f82534a0333786f96b43ced4124ef
https://doi.org/10.1101/2021.10.22.465444

المؤلفون: Christopher M. Gomez, Lawrence J. Schut, Yoshio Ikeda, Lisa E.L. Romano, Tetsuo Ashizawa, Tammy Reid, Lis Hasholt, Tao Zu, Thomas D. Bird, Kaalak Reddy, S Subramony, Barbara A. Perez, J. Andrew Berglund, Laura P.W. Ranum, Jørgen E. Nielsen, Hannah K. Shorrock, Lauren A. Laboissonniere, Monica Banez-Coronel, Alfredo Brusco

المصدر: EMBO Molecular Medicine
Perez, B A, Shorrock, H K, Banez-Coronel, M, Zu, T, Romano, L E, Laboissonniere, L A, Reid, T, Ikeda, Y, Reddy, K, Gomez, C M, Bird, T, Ashizawa, T, Schut, L J, Brusco, A, Berglund, J A, Hasholt, L F, Nielsen, J E, Subramony, S H & Ranum, L P 2021, ' CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity ', EMBO Molecular Medicine, vol. 13, no. 11, e14095 . https://doi.org/10.15252/emmm.202114095
EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: Medicine (General), congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, cis‐modifier, Spinocerebellar Degenerations/genetics, cis-modifier, Nerve Tissue Proteins, Penetrance, Disease, QH426-470, Biology, medicine.disease_cause, Article, R5-920, RAN translation, Genetics, medicine, Nerve Tissue Proteins/genetics, Humans, RNA, Long Noncoding/genetics, sequence interruptions, Spinocerebellar Degenerations, Mutation, Proteins, Articles, medicine.disease, reduced penetrance, nervous system diseases, Protein toxicity, spinocerebellar ataxia type 8, Ran, Spinocerebellar ataxia, Molecular Medicine, RNA, Long Noncoding, Genetics, Gene Therapy & Genetic Disease, medicine.symptom, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff48419dc26e4372e10886d7f4906a0
http://europepmc.org/articles/PMC8573593

المؤلفون: Shu Guo, John D. Cleary, Guillaume M Hautbergue, Laura P.W. Ranum

المصدر: Curr Opin Neurol

مصطلحات موضوعية: Mutation, DNA Repeat Expansion, C9orf72 Protein, business.industry, medicine.medical_treatment, Amyotrophic Lateral Sclerosis, Proteins, Immunotherapy, medicine.disease, Bioinformatics, medicine.disease_cause, Stress Granules, Article, Stress granule, Neurology, RNA editing, C9orf72, Frontotemporal Dementia, Medicine, Gene silencing, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, business, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36adad70d13ec0d68cdd1a1ec2adfab3
https://pubmed.ncbi.nlm.nih.gov/34392299