Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.

Authors: Nihei, Yoshihiro, Mori, Kohji, Degeneration, German Consortium for Frontotemporal Lobar, Alliance, Bavarian Brain Banking, Kamp, Frits, Nuscher, Brigitte, Edbauer, Dieter, Haass, Christian, Werner, Georg, Arzberger, Thomas, Zhou, Qihui, Khosravi, Bahram, Japtok, Julia, Hermann, Andreas, Sommacal, Andreas, Weber, Markus

Source: Acta neuropathologica 139(1), 99-118 (2020). doi:10.1007/s00401-019-02082-0

Subject Terms: info:eu-repo/classification/ddc/610, Aged, Amyotrophic Lateral Sclerosis: genetics, Amyotrophic Lateral Sclerosis: metabolism, Ataxia Telangiectasia Mutated Proteins: metabolism, C9orf72 Protein: genetics, DNA Damage: genetics, Dinucleotide Repeats: physiology, Female, Frontotemporal Lobar Degeneration: genetics, Frontotemporal Lobar Degeneration: metabolism, Heterogeneous-Nuclear Ribonucleoprotein Group A-B: metabolism, Humans, Male, Middle Aged, Phosphorylation

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:31642962; info:eu-repo/semantics/altIdentifier/issn/1432-0533; info:eu-repo/semantics/altIdentifier/issn/0001-6322; https://pub.dzne.de/record/141597

Availability: https://pub.dzne.de/record/141597
https://pub.dzne.de/search?p=id:%22DZNE-2020-07921%22

Cilostazol inhibits the expression of hnRNP A2/B1 and cytokines in human dermal microvascular endothelial cells

Contributors: Yinghua An, Zhenguo Zheng, Xianglan Zhang, Sung Bin Cho, Do Young Kim, Min Ju Choi, Dongsik Bang, Kim, Do Young

Subject Terms: Anti-Inflammatory Agents / pharmacology, Behcet Syndrome / drug therapy, Behcet Syndrome / genetics, Behcet Syndrome / immunology, Behcet Syndrome / metabolism, Cells, Cultured, Cilostazol, Cytokines / genetics, Cytokines / immunology, Cytokines / metabolism, Cytokines / pharmacology, Dose-Response Relationship, Drug, Endothelial Cells / drug effects, Endothelial Cells / immunology, Endothelial Cells / metabolism, Gene Expression Regulation, Heterogeneous-Nuclear Ribonucleoprotein Group A-B / genetics, Heterogeneous-Nuclear Ribonucleoprotein Group A-B / immunology, Heterogeneous-Nuclear Ribonucleoprotein Group A-B / metabolism, Humans, Lipopolysaccharides / pharmacology, Microvessels / drug effects, Microvessels / immunology, Microvessels / metabolism, RNA, Messenger / genetics, Messenger / metabolism, Skin / blood supply

Relation: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY; J00555; https://ir.ymlib.yonsei.ac.kr/handle/22282913/195659; https://www.clinexprheumatol.org/abstract.asp?a=11437; T999201770

Availability: https://ir.ymlib.yonsei.ac.kr/handle/22282913/195659
https://www.clinexprheumatol.org/abstract.asp?a=11437

Identification of an hnRNP A1-dependent splicing silencer in the human papillomavirus type 16 L1 coding region that prevents premature expression of the late L1 gene.

Authors: Zhao, Xiaomin, Rush, Margaret, Schwartz, Stefan

Source: J Virol. 78(20):10888-905

Subject Terms: 3' Untranslated Regions/genetics, Base Sequence, Enhancer Elements (Genetics), Gene Expression Regulation, Viral, Gene Silencing, Hela Cells, Heterogeneous-Nuclear Ribonucleoprotein Group A-B/*metabolism, Humans, Molecular Sequence Data, Oncogene Proteins, Viral/*genetics/metabolism, Papillomavirus, Human/genetics/metabolism, RNA Splicing, RNA, Messenger/metabolism, Research Support, Non-U.S. Gov't

File Description: print

Access URL: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-68089

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.

Authors: Davidson, Yvonne S, Flood, Louis, Pickering-Brown, Stuart, Haass, Christian, Lashley, Tammaryn, Mann, David M A, Robinson, Andrew C, Nihei, Yoshihiro, Mori, Kohji, Rollinson, Sara, Richardson, Anna, Benson, Bridget C, Jones, Matthew, Snowden, Julie S

Source: Acta Neuropathologica Communications 5(1), 31 (2017). doi:10.1186/s40478-017-0437-5

Subject Terms: info:eu-repo/classification/ddc/610, Aged, 80 and over, C9orf72 Protein: genetics, Cerebellum: metabolism, Cerebellum: pathology, DNA Repeat Expansion, DNA-Binding Proteins: metabolism, Female, Frontotemporal Lobar Degeneration: genetics, Frontotemporal Lobar Degeneration: metabolism, Frontotemporal Lobar Degeneration: pathology, Heterogeneous Nuclear Ribonucleoprotein A1: metabolism, Heterogeneous-Nuclear Ribonucleoprotein Group A-B: metabolism, Hippocampus: metabolism, Hippocampus: pathology, Humans, Inclusion Bodies: metabolism, Inclusion Bodies: pathology, Intercellular Signaling Peptides and Proteins: genetics, Male, Middle Aged, Motor Neuron Disease: genetics, Motor Neuron Disease: metabolism, Motor Neuron Disease: pathology, Progranulins, Temporal Lobe: metabolism, Temporal Lobe: pathology, tau Proteins: genetics, C9orf72 Protein

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/2051-5960; info:eu-repo/semantics/altIdentifier/pmid/pmid:28431575; https://pub.dzne.de/record/139228

Availability: https://pub.dzne.de/record/139228
https://pub.dzne.de/search?p=id:%22DZNE-2020-05550%22

Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.

Authors: Mori, Kohji, Nihei, Yoshihiro, Nuscher, Brigitte, Orozco, Denise, Edbauer, Dieter, Haass, Christian, Arzberger, Thomas, Zhou, Qihui, Mackenzie, Ian R, Hermann, Andreas, Hanisch, Frank, Degeneration, German Consortium for Frontotemporal Lobar, Alliance, Bavarian Brain Banking, Kamp, Frits

Source: EMBO reports 17(9), 1314-1325 (2016). doi:10.15252/embr.201541724

Subject Terms: info:eu-repo/classification/ddc/570, Animals, Brain: metabolism, C9orf72 Protein, Dipeptides: metabolism, Fibroblasts, Gene Expression Regulation, Gene Knockdown Techniques, HeLa Cells, Heterogeneous-Nuclear Ribonucleoprotein Group A-B: metabolism, Humans, Neurons: metabolism, Protein Binding, Protein Transport, Proteins: genetics, Pyramidal Cells: metabolism, RNA Transport, RNA, Messenger: genetics, Small Interfering: genetics, Rats, human, Dipeptides, HNRNPA3 protein, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, Proteins, Messenger, Small Interfering

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1469-3178; info:eu-repo/semantics/altIdentifier/pmid/pmid:27461252; info:eu-repo/semantics/altIdentifier/issn/1469-221X; https://pub.dzne.de/record/138773

Availability: https://pub.dzne.de/record/138773
https://pub.dzne.de/search?p=id:%22DZNE-2020-05095%22

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.

Authors: Cooper-Knock, Johnathan, Walsh, Matthew J, Hautbergue, Guillaume M, Shaw, Pamela J, Higginbottom, Adrian, Robin Highley, J., Dickman, Mark J, Edbauer, Dieter, Ince, Paul G, Wharton, Stephen B, Wilson, Stuart A, Kirby, Janine

Source: Brain 137(7), 2040-2051 (2014). doi:10.1093/brain/awu120

Subject Terms: info:eu-repo/classification/ddc/610, Adenosine Triphosphate: pharmacokinetics, Amyotrophic Lateral Sclerosis: genetics, Amyotrophic Lateral Sclerosis: pathology, Biotinylation, Brain: pathology, C9orf72 Protein, DNA Repeat Expansion: genetics, Female, Heterogeneous Nuclear Ribonucleoprotein A1, Heterogeneous-Nuclear Ribonucleoprotein Group A-B: metabolism, Humans, Male, Mass Spectrometry, Neurons: pathology, Nuclear Proteins: metabolism, Phosphorus Isotopes: pharmacokinetics, Protein Binding: drug effects, Proteins: genetics, RNA-Binding Proteins: genetics, RNA-Binding Proteins: metabolism, Ribonucleoproteins: metabolism, Serine-Arginine Splicing Factors, Transcription Factors: metabolism, ALYREF protein, human, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, Nuclear Proteins, Phosphorus Isotopes, Proteins

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/pmid/pmid:24866055; https://pub.dzne.de/record/137453

Availability: https://pub.dzne.de/record/137453
https://pub.dzne.de/search?p=id:%22DZNE-2020-03775%22

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.

Authors: Mori, Kohji, Lammich, Sven, Herms, Jochen, Neumann, Manuela, Van Broeckhoven, Christine, Arzberger, Thomas, Haass, Christian, Mackenzie, Ian R A, Forné, Ignasi, Zilow, Sonja, Kretzschmar, Hans, Edbauer, Dieter, Janssens, Jonathan, Kleinberger, Gernot, Cruts, Marc

Source: Acta neuropathologica 125(3), 413-423 (2013). doi:10.1007/s00401-013-1088-7

Subject Terms: info:eu-repo/classification/ddc/610, Adaptor Proteins, Signal Transducing: metabolism, Amyotrophic Lateral Sclerosis: genetics, Amyotrophic Lateral Sclerosis: metabolism, Amyotrophic Lateral Sclerosis: pathology, C9orf72 Protein, Chromatography, High Pressure Liquid, DNA-Binding Proteins: metabolism, Frontotemporal Lobar Degeneration: genetics, Frontotemporal Lobar Degeneration: metabolism, Frontotemporal Lobar Degeneration: pathology, Gene Expression Regulation: genetics, HEK293 Cells, Heterogeneous-Nuclear Ribonucleoprotein Group A-B: metabolism, Hippocampus: pathology, Humans, Inclusion Bodies: metabolism, Inclusion Bodies: pathology, Mass Spectrometry, Mutation: genetics, Proteins: genetics, RNA, Small Interfering: metabolism, Repetitive Sequences, Nucleic Acid: physiology, Sequestosome-1 Protein, Transfection, Signal Transducing

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1432-0533; info:eu-repo/semantics/altIdentifier/issn/0001-6322; info:eu-repo/semantics/altIdentifier/pmid/pmid:23381195; https://pub.dzne.de/record/136809

Availability: https://pub.dzne.de/record/136809
https://pub.dzne.de/search?p=id:%22DZNE-2020-03131%22

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations.

Authors: Neumann, Manuela, Valori, Chiara Flora, Mackenzie, Ian R.A., Ansorge, Olaf, Kretzschmar, Hans, Munoz, David G, Kusaka, Hirofumi, Yokota, Osamu, Ishihara, Kenji, Ang, Lee-Cyn, Bilbao, Juan M

Source: Acta neuropathologica 124(5), 705-716 (2012). doi:10.1007/s00401-012-1020-6

Subject Terms: info:eu-repo/classification/ddc/610, Adaptor Proteins, Signal Transducing: metabolism, Amyotrophic Lateral Sclerosis: genetics, Amyotrophic Lateral Sclerosis: metabolism, Brain: metabolism, Brain: pathology, DNA-Binding Proteins: metabolism, Female, Frontotemporal Lobar Degeneration: genetics, Frontotemporal Lobar Degeneration: metabolism, Gene Expression Regulation: genetics, Heterogeneous Nuclear Ribonucleoprotein A1, Heterogeneous-Nuclear Ribonucleoprotein Group A-B: metabolism, Humans, Inclusion Bodies: metabolism, Inclusion Bodies: pathology, Male, Mutation: genetics, Poly(A)-Binding Protein I: metabolism, RNA-Binding Protein EWS: metabolism, RNA-Binding Protein FUS: genetics, RNA-Binding Protein FUS: metabolism, RNA-Binding Proteins: metabolism, TATA-Binding Protein Associated Factors: metabolism, beta Karyopherins: metabolism, Signal Transducing, DNA-Binding Proteins, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, KHDRBS1 protein

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1432-0533; info:eu-repo/semantics/altIdentifier/issn/0001-6322; info:eu-repo/semantics/altIdentifier/pmid/pmid:22842875; https://pub.dzne.de/record/136656

Availability: https://pub.dzne.de/record/136656
https://pub.dzne.de/search?p=id:%22DZNE-2020-02978%22

VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.

Authors: Nyhan, Michelle J, El Mashad, Shereen M, O'Donovan, Tracey R, Ahmad, Sarfraz, Collins, Chris, Sweeney, Paul, Rogers, Eamonn, O'Sullivan, Gerald C, McKenna, Sharon L

Contributors: University College Cork and Mercy University Hospital, Cork, Ireland.

Subject Terms: Antigens, Neoplasm/*metabolism, Basic Helix-Loop-Helix Transcription Factors/*metabolism, Blotting, Western, Carbonic Anhydrases/*metabolism, Carcinoma, Renal Cell/*genetics/*metabolism, Cell Line, Heterogeneous-Nuclear Ribonucleoprotein Group A-B/*metabolism, Humans, Hypoxia-Inducible Factor 1, alpha Subunit/*metabolism, Immunohistochemistry, Mutation, Osteopontin/*metabolism, Reverse Transcriptase Polymerase Chain Reaction, Von Hippel-Lindau Tumor Suppressor Protein/genetics/*metabolism

Relation: http://hdl.handle.net/10147/206264; Analytical cellular pathology (Amsterdam)

Availability: http://hdl.handle.net/10147/206264
https://doi.org/10.3233/ACP-CLO-2010-0541