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Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 129 - 133
The GGGGCC (G(4)C(2)) repeat expansion in a noncoding region of C9orf72 is the most common cause of sporadic and familial forms of amyotrophic lateral... 
C9FTD/ALS | MULTIDISCIPLINARY SCIENCES | NUCLEAR-PORE COMPLEX | FRONTOTEMPORAL DEMENTIA | DISEASE | MESSENGER-RNA EXPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | PROTEINS | HEXANUCLEOTIDE REPEAT | STEM-CELL MODELS | Protein Biosynthesis | Salivary Glands - pathology | DNA Repeat Expansion - genetics | Humans | Male | Neurons - cytology | Drosophila melanogaster - genetics | Salivary Glands - cytology | RNA - genetics | Drosophila melanogaster - metabolism | RNA Transport - genetics | Female | C9orf72 Protein | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Muscles - metabolism | Active Transport, Cell Nucleus - genetics | Frontotemporal Dementia - pathology | Induced Pluripotent Stem Cells - metabolism | RNA - metabolism | Eye - metabolism | Frontotemporal Dementia - genetics | Animals, Genetically Modified | Amyotrophic Lateral Sclerosis - genetics | Nuclear Pore - pathology | Drosophila melanogaster - cytology | Nuclear Pore - genetics | Nuclear Pore - metabolism | Open Reading Frames - genetics | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Animals | HeLa Cells | Salivary Glands - metabolism | Muscles - cytology | Trinucleotide repeats | Genetic research | Genetic aspects | Research | Biological transport | Cytoplasm | Proteins | Insects | Toxicity | Pathogenesis | Amyotrophic lateral sclerosis | Chromosomes | Dementia | RAN translation | genetic screen | repeat expansion | Drosophila | DPR | FTD | ALS | C9ORF72 | nuclear pore
Journal Article
Cell, ISSN 0092-8674, 03/2016, Volume 164, Issue 6, pp. 1162 - 1171
Nuclear pore complexes (NPCs) perforate the nuclear envelope and serve as the primary transport gates for molecular exchange between nucleus and cytoplasm.... 
Nuclear Pore Complex Proteins - genetics | Animals | Humans | Nuclear Pore Complex Proteins - chemistry | Models, Molecular | Nuclear Pore - genetics | Nuclear Pore - chemistry | Evolution, Molecular
Journal Article
Nature Neuroscience, ISSN 1097-6256, 02/2018, Volume 21, Issue 2, pp. 228 - 239
The cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43) is a common histopathological hallmark of the amyotrophic lateral... 
A315T MUTATION | REPEAT EXPANSION | MESSENGER-RNA | DROSOPHILA MODEL | ALS | AMYOTROPHIC-LATERAL-SCLEROSIS | MOTOR-NEURON DISEASE | FRONTOTEMPORAL LOBAR DEGENERATION | EXPRESSION | NEUROSCIENCES | RNA-BINDING PROTEIN | C9orf72 Protein - genetics | Active Transport, Cell Nucleus - physiology | Humans | Nuclear Envelope - ultrastructure | Male | Drosophila Proteins - metabolism | Cerebral Cortex - cytology | DNA-Binding Proteins - metabolism | Frontotemporal Dementia - metabolism | Protein Aggregation, Pathological - pathology | Female | C9orf72 Protein - metabolism | Active Transport, Cell Nucleus - genetics | Neuroblastoma - pathology | Frontotemporal Dementia - pathology | Frontotemporal Dementia - genetics | Animals, Genetically Modified | Amyotrophic Lateral Sclerosis - genetics | Drosophila | Mice, Inbred C57BL | Cells, Cultured | Nuclear Pore - genetics | DNA-Binding Proteins - genetics | Nuclear Pore - metabolism | DNA-Binding Proteins - ultrastructure | Amyotrophic Lateral Sclerosis - pathology | Animals | Larva | Amyotrophic Lateral Sclerosis - metabolism | C9orf72 Protein - ultrastructure | Embryo, Nonmammalian | Mice | Drosophila Proteins - genetics | Nuclear Envelope - pathology | Protein Aggregation, Pathological - metabolism | Fibroblasts | Amyotrophic lateral sclerosis | Research | Protein binding | Brain | Neurons | Cortex | Biotin | Ribonucleic acid--RNA | Pathology | DNA-binding protein | Nucleoporins | RNA transport | Aggregates | Stem cells | Dementia disorders | Mutation | Transport | Protein transport | Frontotemporal dementia | Pluripotency | Deoxyribonucleic acid--DNA
Journal Article
Journal of Cell Science, ISSN 0021-9533, 06/2013, Volume 126, Issue 12, pp. 2656 - 2667
In eukaryotes, mRNA export involves many evolutionarily conserved factors that carry the nascent transcript to the nuclear pore complex (NPC). The THO/TREX... 
AMEX | mRNA export | NXF1 | Transcription | Nuclear pore complex | THO/TREX | TREX-2 | MESSENGER-RNA EXPORT | BINDING PROTEIN | PHOTORECEPTOR CELLS | SAGA | CELL BIOLOGY | STRUCTURAL BASIS | FUNCTIONAL COMPONENT | PROTEOMIC ANALYSIS | INTERACTION PLATFORM | LIVING CELLS | RNA-Binding Proteins - genetics | Acetyltransferases - metabolism | Humans | Intracellular Signaling Peptides and Proteins - metabolism | Phosphoproteins - metabolism | RNA, Messenger - metabolism | Acetyltransferases - genetics | Nuclear Pore Complex Proteins - genetics | Cell Nucleus - metabolism | Exodeoxyribonucleases - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Proto-Oncogene Proteins - metabolism | RNA Transport | Nuclear Pore Complex Proteins - metabolism | RNA, Messenger - genetics | Nuclear Pore - genetics | Nuclear Proteins - metabolism | Proto-Oncogene Proteins - genetics | Phosphoproteins - genetics | Transcription Factors - genetics | Nuclear Pore - metabolism | Nucleocytoplasmic Transport Proteins - genetics | Transcription Factors - metabolism | Transcription, Genetic - physiology | Nucleocytoplasmic Transport Proteins - metabolism | Cell Nucleus - genetics | Exodeoxyribonucleases - metabolism | Cell Line, Tumor | HeLa Cells | Transcription, Genetic - genetics | RNA-Binding Proteins - metabolism
Journal Article
Developmental Cell, ISSN 1534-5807, 10/2017, Volume 43, Issue 2, pp. 157 - 171.e7
Journal Article
Journal Article
Developmental Cell, ISSN 1534-5807, 09/2016, Volume 38, Issue 5, pp. 478 - 492
Journal Article