المؤلفون: Lin YC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Kumar MS; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Ramesh N; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Anderson EN; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Nguyen AT; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kim B; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cheung S; Department of Pathology, Vancouver General Hospital, Vancouver, British Columbia, Canada., McDonough JA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Skarnes WC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Lopez-Gonzalez R; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Fawzi NL; Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI, USA., Mackenzie IRA; Department of Pathology, Vancouver General Hospital, Vancouver, British Columbia, Canada., Lee EB; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Nickerson JA; Department of Pediatrics, University of Massachusetts Medical School, Worcester, USA., Grunwald D; RNA Therapeutics Institute, University of Massachusetts Medical School, Worcester, MA, USA., Pandey UB; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Bosco DA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA. Daryl.Bosco@umassmed.edu.; Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA, USA. Daryl.Bosco@umassmed.edu.

المصدر: Nature neuroscience [Nat Neurosci] 2021 Aug; Vol. 24 (8), pp. 1077-1088. Date of Electronic Publication: 2021 May 31.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Active Transport, Cell Nucleus/*physiology , Neurons/*metabolism , Nuclear Pore Complex Proteins/*metabolism , RNA-Binding Protein FUS/*metabolism, Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/metabolism ; Animals ; Animals, Genetically Modified ; Drosophila ; Humans ; Mutation ; RNA-Binding Protein FUS/genetics

المؤلفون: Baron DM; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Matheny T; Department of Chemistry and Biochemistry, University of Colorado, Boulder, CO, USA., Lin YC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Leszyk JD; Department of Biochemistry and Molecular Pharmacology, Worcester, MA, USA.; Mass Spectrometry Facility, University of Massachusetts Medical School, Shrewsbury, MA, USA., Kenna K; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands., Gall KV; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Santos DP; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Tischbein M; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Funes S; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Hayward LJ; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Kiskinis E; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Parker R; Department of Chemistry and Biochemistry, University of Colorado, Boulder, CO, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Shaffer SA; Department of Biochemistry and Molecular Pharmacology, Worcester, MA, USA.; Mass Spectrometry Facility, University of Massachusetts Medical School, Shrewsbury, MA, USA., Bosco DA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Biochemistry and Molecular Pharmacology, Worcester, MA, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2019 Jul 01; Vol. 28 (13), pp. 2143-2160.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Protein Biosynthesis*/drug effects, Amyotrophic Lateral Sclerosis/*genetics , Endoplasmic Reticulum/*metabolism , Golgi Apparatus/*metabolism , Motor Neurons/*metabolism , RNA-Binding Protein FUS/*genetics, Amyotrophic Lateral Sclerosis/metabolism ; Animals ; Arsenites/pharmacology ; Cell Line, Tumor ; Coat Protein Complex I/metabolism ; Cytoplasmic Granules/drug effects ; Cytoplasmic Granules/metabolism ; Endoplasmic Reticulum/drug effects ; Golgi Apparatus/drug effects ; Humans ; Mice ; Motor Neurons/drug effects ; Mutation ; Proteomics ; RNA-Binding Protein FUS/metabolism

المؤلفون: Tischbein M; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605., Baron DM; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605., Lin YC; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605., Gall KV; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605., Landers JE; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605., Fallini C; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605., Bosco DA; From the Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605 Daryl.Bosco@umassmed.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2019 Jun 28; Vol. 294 (26), pp. 10194-10210. Date of Electronic Publication: 2019 May 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Stress, Physiological*, Calcium/*metabolism , Cell Nucleus/*metabolism , Glutamic Acid/*adverse effects , RNA, Messenger/*metabolism , RNA-Binding Protein FUS/*metabolism , Receptors, AMPA/*metabolism, Active Transport, Cell Nucleus ; Amyotrophic Lateral Sclerosis ; Cytoplasm ; Frontotemporal Dementia ; Humans ; Mutation ; Neurons/drug effects ; Neurons/metabolism ; Neurons/pathology ; RNA Processing, Post-Transcriptional ; RNA, Messenger/genetics ; RNA-Binding Protein FUS/genetics ; Receptors, AMPA/genetics

المؤلفون: Sama RR; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Gatto R; Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, IL, USA., McKeon JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Song Y; Department of Genetics, School of Medicine, Yale University, New Haven, CT, USA.; Marine Biological Laboratory, Woods Hole, MA, USA., Rotunno MS; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Penaranda S; Marine Biological Laboratory, Woods Hole, MA, USA., Abdurakhmanov I; Marine Biological Laboratory, Woods Hole, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Morfini G; Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, IL, USA. gmorfini@uic.edu.; Marine Biological Laboratory, Woods Hole, MA, USA. gmorfini@uic.edu., Brady ST; Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, IL, USA. stbrady@uic.edu.; Marine Biological Laboratory, Woods Hole, MA, USA. stbrady@uic.edu., Bosco DA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA. Daryl.Bosco@umassmed.edu.

المصدر: Scientific reports [Sci Rep] 2017 Mar 08; Vol. 7 (1), pp. 115. Date of Electronic Publication: 2017 Mar 08.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Axonal Transport*, Amyotrophic Lateral Sclerosis/*metabolism , Motor Neurons/*metabolism , RNA-Binding Protein FUS/*genetics , p38 Mitogen-Activated Protein Kinases/*metabolism, Amyotrophic Lateral Sclerosis/genetics ; Animals ; Decapodiformes/growth & development ; Decapodiformes/metabolism ; Humans ; MAP Kinase Signaling System ; Mice ; Mutation ; Protein Folding ; RNA-Binding Protein FUS/chemistry ; Superoxide Dismutase-1/metabolism

المؤلفون: Özoğuz A; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Uyan Ö; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Birdal G; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Iskender C; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Kartal E; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Lahut S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Ömür Ö; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Agim ZS; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Eken AG; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Sen NE; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Kavak P; Computer Engineering Department, Boğaziçi University, Istanbul, Turkey., Saygı C; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey., Sapp PC; Neurology Department, Medical School, University of Massachusetts, Worcester, MA, USA., Keagle P; Neurology Department, Medical School, University of Massachusetts, Worcester, MA, USA., Parman Y; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Tan E; Neurology Department, Medical School, Hacettepe University, Ankara, Turkey., Koç F; Neurology Department, Medical School, Çukurova University, Adana, Turkey., Deymeer F; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Oflazer P; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Hanağası H; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Gürvit H; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Bilgiç B; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Durmuş H; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Ertaş M; Department of Neurology, Liv Hospital, Istanbul, Turkey., Kotan D; Faculty of Medicine, Department of Neurology, Sakarya University, Sakarya, Turkey., Akalın MA; Neurology Department, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey., Güllüoğlu H; Department of Neurology, Medical Park Izmir Hospital, Izmir, Turkey., Zarifoğlu M; Department of Neurology, School of Medicine, Uludağ University, Bursa, Turkey., Aysal F; Bakırköy Research and Training Hospital for Neurologic and Psychiatric Diseases, Istanbul, Turkey., Döşoğlu N; Department of Microbiology, Haydarpaşa Numune Education and Research Hospital, Istanbul, Turkey., Bilguvar K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Günel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Keskin Ö; Chemical and Biological Engineering Department, Koç University, Istanbul, Turkey., Akgün T; Department of Anesthesiology and Reanimation, American Hospital, Istanbul, Turkey., Özçelik H; Department of Pathology and Laboratory Medicine, Samuel Lunenfeld Research Institute, University of Toronto, Toronto, Ontario, Canada., Landers JE; Neurology Department, Medical School, University of Massachusetts, Worcester, MA, USA., Brown RH; Neurology Department, Medical School, University of Massachusetts, Worcester, MA, USA., Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey. Electronic address: basak@boun.edu.tr.

المصدر: Neurobiology of aging [Neurobiol Aging] 2015 Apr; Vol. 36 (4), pp. 1764.e9-1764.e18. Date of Electronic Publication: 2015 Jan 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Amyotrophic Lateral Sclerosis/*genetics , Mutation/*genetics , Proteins/*genetics , RNA-Binding Protein FUS/*genetics , Superoxide Dismutase/*genetics, Adaptor Proteins, Signal Transducing/genetics ; Adolescent ; Adult ; Aged ; Autophagy-Related Proteins ; C9orf72 Protein ; Cell Cycle Proteins/genetics ; Cytoskeletal Proteins ; DNA-Binding Proteins/genetics ; Exome/genetics ; Female ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Membrane Transport Proteins ; Middle Aged ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Oncogene Proteins/genetics ; Protein Deglycase DJ-1 ; Protein Serine-Threonine Kinases/genetics ; Sequestosome-1 Protein ; Superoxide Dismutase-1 ; TRPM Cation Channels/genetics ; Transcription Factor TFIIIA/genetics ; Turkey ; Ubiquitins/genetics ; Young Adult

المؤلفون: Ward CL; Department of Neurology, University of Massachusetts Medical School, Albert Sherman Center, Worcester, MA, USA., Boggio KJ; Department of Neurology, University of Massachusetts Medical School, Albert Sherman Center, Worcester, MA, USA., Johnson BN; Laboratory for Drug Discovery in Neurodegeneration, Harvard NeuroDiscovery Center, Brigham and Women's Hospital, Harvard Medical School, Cambridge, MA, USA., Boyd JB; Laboratory for Drug Discovery in Neurodegeneration, Harvard NeuroDiscovery Center, Brigham and Women's Hospital, Harvard Medical School, Cambridge, MA, USA., Douthwright S; Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, MA, USA., Shaffer SA; 1] Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA, USA [2] Proteomics and Mass Spectrometry Facility, University of Massachusetts Medical School, Shrewsbury, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Albert Sherman Center, Worcester, MA, USA., Glicksman MA; Laboratory for Drug Discovery in Neurodegeneration, Harvard NeuroDiscovery Center, Brigham and Women's Hospital, Harvard Medical School, Cambridge, MA, USA., Bosco DA; 1] Department of Neurology, University of Massachusetts Medical School, Albert Sherman Center, Worcester, MA, USA [2] Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA, USA.

المصدر: Cell death & disease [Cell Death Dis] 2014 Dec 11; Vol. 5, pp. e1572. Date of Electronic Publication: 2014 Dec 11.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

مواضيع طبية MeSH: Cell Proliferation*, Cells/*cytology , RNA-Binding Protein FUS/*deficiency, Cell Line ; Cells/metabolism ; Gene Knockdown Techniques ; Histones/metabolism ; Humans ; M Phase Cell Cycle Checkpoints ; Phosphorylation ; RNA Interference ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; RNA-Binding Protein FUS/genetics

المؤلفون: van Blitterswijk M; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands., Wang ET, Friedman BA, Keagle PJ, Lowe P, Leclerc AL, van den Berg LH, Housman DE, Veldink JH, Landers JE

المصدر: PloS one [PLoS One] 2013; Vol. 8 (4), pp. e60788. Date of Electronic Publication: 2013 Apr 08.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Sequence Analysis, RNA*, Amyotrophic Lateral Sclerosis/*genetics , RNA-Binding Protein FUS/*genetics, Exons/genetics ; HEK293 Cells ; Humans ; Introns/genetics ; RNA, Small Interfering/genetics ; RNA-Binding Protein FUS/deficiency

المؤلفون: Ticozzi N; Department of Neurology, University of Massachusetts Medical School, Worcester, 01605, USA., Vance C, Leclerc AL, Keagle P, Glass JD, McKenna-Yasek D, Sapp PC, Silani V, Bosco DA, Shaw CE, Brown RH Jr, Landers JE

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2011 Apr; Vol. 156B (3), pp. 285-90. Date of Electronic Publication: 2011 Jan 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Sequence Homology, Amino Acid*, Amyotrophic Lateral Sclerosis/*genetics , RNA-Binding Protein FUS/*chemistry, Amino Acid Sequence ; Base Sequence ; DNA Mutational Analysis ; Genetic Variation ; Humans ; Molecular Sequence Data ; TATA-Binding Protein Associated Factors/chemistry ; TATA-Binding Protein Associated Factors/genetics

المؤلفون: Ticozzi N; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE

المصدر: Neurology [Neurology] 2009 Oct 13; Vol. 73 (15), pp. 1180-5. Date of Electronic Publication: 2009 Sep 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*genetics , RNA-Binding Protein FUS/*genetics, Base Sequence ; Chromosomes, Human, Pair 16/genetics ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Italy ; Male ; Middle Aged ; Models, Genetic ; Mutation, Missense ; Pedigree

المؤلفون: Kwiatkowski TJ Jr; Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA. tkwiatkowski@partners.org, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr

المصدر: Science (New York, N.Y.) [Science] 2009 Feb 27; Vol. 323 (5918), pp. 1205-8.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Amyotrophic Lateral Sclerosis/*genetics , Chromosomes, Human, Pair 16/*genetics , RNA-Binding Protein FUS/*genetics , RNA-Binding Protein FUS/*metabolism, Age of Onset ; Amino Acid Substitution ; Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Brain/pathology ; Cell Line, Tumor ; Cell Nucleus/metabolism ; Cytoplasm/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Exons ; Female ; Humans ; Male ; Mice ; Motor Neurons/chemistry ; Motor Neurons/metabolism ; Motor Neurons/ultrastructure ; Mutant Proteins/chemistry ; Mutant Proteins/genetics ; Mutant Proteins/metabolism ; Neurons/metabolism ; Neurons/ultrastructure ; RNA/metabolism ; RNA-Binding Protein FUS/chemistry ; Recombinant Fusion Proteins/metabolism ; Sequence Analysis, DNA ; Spinal Cord/pathology