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Journal Article
Journal Article
Acta neuropathologica, ISSN 0001-6322, 2016, Volume 132, Issue 2, pp. 175 - 196
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment available. An increasing number of genetic causes of ALS... 
Pathology | Neurosciences | Medicine & Public Health | FMRP | FUS | TDP-43 | Amyotrophic lateral sclerosis | Motor neuron | C9orf72 | WILD-TYPE | REPEAT EXPANSION | FRONTOTEMPORAL DEMENTIA | DNA-DAMAGE | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | NEGATIVE REGULATOR | AUTOPHAGY RECEPTOR | MESSENGER-RNAS | HEXANUCLEOTIDE REPEAT | NUCLEOCYTOPLASMIC TRANSPORT | Adaptor Proteins, Vesicular Transport - genetics | Fragile X Mental Retardation Protein - metabolism | Adaptor Proteins, Vesicular Transport - metabolism | Motor Neurons - pathology | Ataxin-2 - genetics | DNA-Binding Proteins - metabolism | Ataxin-2 - metabolism | Guanine Nucleotide Exchange Factors - metabolism | C9orf72 Protein | Neurons - metabolism | Eye Proteins - genetics | Disease Models, Animal | Guanine Nucleotide Exchange Factors - genetics | Amyotrophic Lateral Sclerosis - genetics | Mice, Inbred C57BL | Mutant Proteins - genetics | RNA-Binding Protein FUS - genetics | Mutant Proteins - metabolism | Mitochondria - metabolism | RNA-Binding Protein FUS - metabolism | DNA-Binding Proteins - genetics | Motor Neurons - metabolism | Animals | Eye Proteins - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Fragile X Mental Retardation Protein - genetics | Proteins | Nervous system diseases | RNA | Proteolysis | Comparative analysis | Protein binding | Original Paper
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2014, Volume 35, Issue 10, pp. 2421.e13 - 2421.e17
Journal Article
by Bailey, Jessica N Cooke and Loomis, Stephanie J and Kang, Jae H and Allingham, R. Rand and Gharahkhani, Puya and Khor, Chiea Chuen and Burdon, Kathryn P and Aschard, Hugues and Chasman, Daniel I and Igo, Robert P and Hysi, Pirro G and Glastonbury, Craig A and Ashley-Koch, Allison and Brilliant, Murray and Brown, Andrew A and Budenz, Donald L and Buil, Alfonso and Cheng, Ching-Yu and Choi, Hyon and Christen, William G and Curhan, Gary and De Vivo, Immaculata and Fingert, John H and Foster, Paul J and Fuchs, Charles and Gaasterland, Douglas and Gaasterland, Terry and Hewitt, Alex W and Hu, Frank and Hunter, David J and Khawaja, Anthony P and Lee, Richard K and Li, Zheng and Lichter, Paul R and Mackey, David A and McGuffin, Peter and Mitchell, Paul and Moroi, Sayoko E and Perera, Shamira A and Pepper, Keating W and Qi, Qibin and Realini, Tony and Richards, Julia E and Ridker, Paul M and Rimm, Eric and Ritch, Robert and Ritchie, Marylyn and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Song, Yeunjoo E and Tamimi, Rulla M and Topouzis, Fotis and Viswanathan, Ananth C and Verma, Shefali Setia and Vollrath, Douglas and Wang, Jie Jin and Weisschuh, Nicole and Wissinger, Bernd and Wollstein, Gadi and Wong, Tien Y and Yaspan, Brian L and Zack, Donald J and Zhang, Kang and Weinreb, Robert N and Pericak-Vance, Margaret A and Small, Kerrin and Hammond, Christopher J and Aung, Tin and Liu, Yutao and Vithana, Eranga N and MacGregor, Stuart and Craig, Jamie E and Kraft, Peter and Howell, Gareth and Hauser, Michael A and Pasquale, Louis R and Haines, Jonathan L and Wiggs, Janey L and EPIC Norfolk Eye Study and ANZRAG Consortium
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 189 - 194
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, p. e42956
Journal Article
Cell, ISSN 0092-8674, 05/2018, Volume 173, Issue 4, pp. 958 - 971.e17
Defects in nucleocytoplasmic transport have been identified as a key pathogenic event in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)... 
ALS | nucleocytoplasmic transport | C9ORF72 | stress granule | NUCLEAR IMPORT | PHASE-SEPARATION | RNA | DIPEPTIDE-REPEAT PROTEINS | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | CELL BIOLOGY | C9orf72 Protein - genetics | alpha Karyopherins - metabolism | beta Karyopherins - genetics | alpha Karyopherins - antagonists & inhibitors | ran GTP-Binding Protein - genetics | Membrane Glycoproteins - metabolism | Active Transport, Cell Nucleus - physiology | DNA Repeat Expansion - genetics | Humans | Middle Aged | Male | beta Karyopherins - antagonists & inhibitors | Ataxin-2 - genetics | Frontotemporal Dementia - metabolism | RNA Interference | Arsenites - toxicity | Ataxin-2 - metabolism | HEK293 Cells | Female | C9orf72 Protein - metabolism | Frontotemporal Dementia - pathology | Nuclear Pore Complex Proteins - metabolism | ran GTP-Binding Protein - metabolism | Amyotrophic Lateral Sclerosis - pathology | ran GTP-Binding Protein - antagonists & inhibitors | Sodium Compounds - toxicity | Active Transport, Cell Nucleus - drug effects | Amyotrophic Lateral Sclerosis - metabolism | alpha Karyopherins - genetics | Aged | Oxidative Stress - drug effects | beta Karyopherins - metabolism | Ataxin-2 - antagonists & inhibitors | RNA, Small Interfering - metabolism | Proteins | Medical colleges | Nervous system diseases | Neurosciences | Research institutes | Molecular biology | Dementia
Journal Article
Molecular Cell, ISSN 1097-2765, 04/2017, Volume 66, Issue 1, pp. 129 - 140.e7
Journal Article