Works matching DE "MJD1 protein"

Results: 33

Modification of Huntington's disease by short tandem repeats.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae016

By:

Hong, Eun Pyo;
Ramos, Eliana Marisa;
Aziz, N Ahmad;
Massey, Thomas H;
McAllister, Branduff;
Lobanov, Sergey;
Jones, Lesley;
Holmans, Peter;
Kwak, Seung;
Orth, Michael;
Ciosi, Marc;
Lomeikaite, Vilija;
Monckton, Darren G;
Long, Jeffrey D;
Lucente, Diane;
Wheeler, Vanessa C;
Gillis, Tammy;
MacDonald, Marcy E;
Sequeiros, Jorge;
Gusella, James F

Publication type:

Article

A Model for Small Heat Shock Protein Inhibition of Polyglutamine Aggregation.

Published in:

Cell Biochemistry & Biophysics, 2014, v. 69, n. 2, p. 275, doi. 10.1007/s12013-013-9795-1

By:

Healy, Eamonn;
Little, Carley;
King, Peter

Publication type:

Article

The Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics inSpinocerebellar Ataxia Type 3 Models.

Published in:

Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00196

By:

Jung-Yu Hsu;
Yu-Ling Jhang;
Pei-Hsun Cheng;
Yu-Fan Chang;
Su-Han Mao;
Han-In Yang;
Chia-Wei Lin;
Chuan-Mu Chen;
Shang-Hsun Yang

Publication type:

Article

cDNA Cloning and Tissue Expression Analyses of the Encoding Regions for Three Novel Porcine Genes- MJD1, CDC42 and NECD.

Published in:

Animal Biotechnology, 2008, v. 19, n. 2, p. 117, doi. 10.1080/10495390801896982

By:

Liu, G. Y.;
Gao, S. Z.;
Ge, C. R.;
Zhang, X.

Publication type:

Article

Enzymatic production of mono-ubiquitinated proteins for structural studies: The example of the Josephin domain of ataxin-3.

Published in:

FEBS Open Bio, 2013, v. 3, p. 453, doi. 10.1016/j.fob.2013.10.005

By:

Faggiano, Serena;
Menon, Rajesh P.;
Kelly, Geoff P.;
McCormick, John;
Todi, Sokol V.;
Scaglione, K. Matthew;
Paulson, Henry L.;
Pastore, Annalisa

Publication type:

Article

Ubiquitin ligase ITCH recruitment suppresses the aggregation and cellular toxicity of cytoplasmic misfolded proteins.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05077

By:

Chhangani, Deepak;
Upadhyay, Arun;
Amanullah, Ayeman;
Joshi, Vibhuti;
Mishra, Amit

Publication type:

Article

Autophagy mediates SUMO-induced degradation of a polyglutamine protein ataxin-3.

Published in:

Animal Cells & Systems, 2017, v. 21, n. 3, p. 169, doi. 10.1080/19768354.2017.1330765

By:

Hwang, Soo Pyung;
Lee, Do Hee

Publication type:

Article

A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3.

Published in:

2017

By:

Weber, Jonasz J.;
Golla, Matthias;
Guaitoli, Giambattista;
Wanichawan, Pimthanya;
Hayer, Stefanie N.;
Hauser, Stefan;
Krah, Ann-Christin;
Nage, Maike;
Samer, Sebastian;
Aronica, Eleonora;
Carlson, Cathrine R.;
Schö, Ludger;
Riess, Olaf;
Gloeckner, Christian J.;
Nguyen, Huu P.;
Hübener-Schmid, Jeannette;
Krahl, Ann-Christin;
Nagel, Maike;
Schöls, Ludger

Publication type:

journal article

Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 320

By:

Mendonça, Liliana S.;
Nóbrega, Clévio;
Hirai, Hirokazu;
Kaspar, Brian K.;
Pereira de Almeida, Luís

Publication type:

Article

Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado–Joseph disease.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. 2173, doi. 10.1093/brain/awt144

By:

Nascimento-Ferreira, Isabel;
Nóbrega, Clévio;
Vasconcelos-Ferreira, Ana;
Onofre, Isabel;
Albuquerque, David;
Aveleira, Célia;
Hirai, Hirokazu;
Déglon, Nicole;
Pereira de Almeida, Luís

Publication type:

Article

Josephin Domain Structural Conformations Explored by Metadynamics in Essential Coordinates.

Published in:

PLoS Computational Biology, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pcbi.1004699

By:

Deriu, Marco A.;
Grasso, Gianvito;
Tuszynski, Jack A.;
Gallo, Diego;
Morbiducci, Umberto;
Danani, Andrea

Publication type:

Article

Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 4, p. 205, doi. 10.1007/s100380200025

By:

do Carmo Costa, M.;
Sequeiros, J.;
Maciel, P.

Publication type:

Article

A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements.

Published in:

European Neurology, 2000, v. 44, n. 3, p. 189, doi. 10.1159/000008218

By:

Egan, Robert A.;
Camicioli, Richard;
Popovich, Bradley W.

Publication type:

Article

Protein Environment: A Crucial Triggering Factor in Josephin Domain Aggregation: The Role of 2,2,2-Trifluoroethanol.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2151, doi. 10.3390/ijms19082151

By:

Visentin, Cristina;
Navarro, Susanna;
Grasso, Gianvito;
Regonesi, Maria Elena;
Deriu, Marco Agostino;
Tortora, Paolo;
Ventura, Salvador

Publication type:

Article

p62/Sequestosome 1 Regulates Aggresome Formation of Pathogenic Ataxin-3 with Expanded Polyglutamine.

Published in:

International Journal of Molecular Sciences, 2014, v. 15, n. 9, p. 14997, doi. 10.3390/ijms150914997

By:

Liang Zhou;
Hongfeng Wang;
Dong Chen;
Feng Gao;
Zheng Ying;
Guanghui Wang

Publication type:

Article

Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.

Published in:

Journal of Neurochemistry, 2019, v. 148, n. 1, p. 8, doi. 10.1111/jnc.14541

By:

Matos, Carlos A.;
de Almeida, Luis Pereira;
Nóbrega, Clévio

Publication type:

Article

CDK5 protects from caspase-induced Ataxin-3 cleavage and neurodegeneration.

Published in:

Journal of Neurochemistry, 2014, v. 129, n. 6, p. 1013, doi. 10.1111/jnc.12684

By:

Liman, Jan;
Deeg, Sebastian;
Voigt, Aaron;
Voßfeldt, Hannes;
Dohm, Christoph P.;
Karch, André;
Weishaupt, Jochen;
Schulz, Jörg B.;
Bähr, Mathias;
Kermer, Pawel

Publication type:

Article

The deubiquitylase Ataxin-3 restricts PTEN transcription in lung cancer cells.

Published in:

Oncogene, 2014, v. 33, n. 33, p. 4265, doi. 10.1038/onc.2013.512

By:

Sacco, J J;
Yau, T Y;
Darling, S;
Patel, V;
Liu, H;
Urbé, S;
Clague, M J;
Coulson, J M

Publication type:

Article

Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease.

Published in:

PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141610

By:

Esteves, Sofia;
Duarte-Silva, Sara;
Naia, Luana;
Neves-Carvalho, Andreia;
Teixeira-Castro, Andreia;
Rego, Ana Cristina;
Silva-Fernandes, Anabela;
Maciel, Patrícia

Publication type:

Article

The Role of Apolipoprotein E as a Risk Factor for an Earlier Age at Onset for Machado-Joseph Disease Is Doubtful.

Published in:

PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111356

By:

Zhou, Qi;
Ni, Wang;
Dong, Yi;
Wang, Ning;
Gan, Shi-Rui;
Wu, Zhi-Ying

Publication type:

Article

RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0100086

By:

Nóbrega, Clévio;
Nascimento-Ferreira, Isabel;
Onofre, Isabel;
Albuquerque, David;
Déglon, Nicole;
Pereira de Almeida, Luís

Publication type:

Article

Conformational Behavior and Aggregation of Ataxin-3 in SDS.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069416

By:

Saunders, Helen M.;
Hughes, Victoria A.;
Cappai, Roberto;
Bottomley, Stephen P.

Publication type:

Article

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3.

Published in:

Journal of Neuroscience, 2008, v. 28, n. 48, p. 12713, doi. 10.1523/JNEUROSCI.3909-08.2008

By:

Xi Chen;
Tie-Shan Tang;
Huiping Tu;
Nelson, Omar;
Pook, Mark;
Hammer, Robert;
Nukina, Nobuyuki;
Bezprozvanny, Ilya

Publication type:

Article

Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3: In Vivo Evidence.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 28, p. 7418, doi. 10.1523/JNEUROSCI.4540-06.2007

By:

Bichelmeier, Ulrike;
Schmidt, Thorsten;
Hübener, Jeannette;
Boy, Jana;
Rüttiger, Lukas;
Häbig, Karina;
Poths, Sven;
Bonin, Michael;
Knipper, Marlies;
Schmidt, Werner J.;
Wilbertz, Johannes;
Wolburg, Hartwig;
Laccone, Franco;
Riess, Olaf

Publication type:

Article

Clinical features and genetic diagnosis of hereditary spinocerebellar ataxia 3.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 4, p. 3731, doi. 10.3892/mmr.2016.5707

By:

YAOGUANG WANG;
XIAOKAI YANG;
WEIDE MA;
JINXIN LI;
QINGYUAN ZHANG;
SHUQI XIA;
HAI WANG;
CHENGHUI ZHANG;
XIAOMIN XU;
JIAYONG ZHENG

Publication type:

Article

VCP/p97 modulates PtdIns3P production and autophagy initiation.

Published in:

Autophagy, 2021, v. 17, n. 4, p. 1052, doi. 10.1080/15548627.2021.1898742

By:

Wrobel, Lidia;
Hill, Sandra M.;
Ashkenazi, Avraham;
Rubinsztein, David C.

Publication type:

Article

Corrigendum to 'Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice'.

Published in:: Molecular Therapy, 2014, v. 22, n. 4, p. 891, doi. 10.1038/mt.2014.16
Publication type:: Article

High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression.

Published in:

Cerebellum, 2015, v. 14, n. 6, p. 677, doi. 10.1007/s12311-015-0667-7

By:

Shi, Yuting;
Wang, Chunrong;
Huang, Fengzhen;
Chen, Zhao;
Sun, Zhanfang;
Wang, Junling;
Tang, Beisha;
Ashizawa, Tetsuo;
Klockgether, Thomas;
Jiang, Hong

Publication type:

Article

Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells.

Published in:

Cerebellum, 2014, v. 13, n. 1, p. 29, doi. 10.1007/s12311-013-0516-5

By:

Konno, Ayumu;
Shuvaev, Anton;
Miyake, Noriko;
Miyake, Koichi;
Iizuka, Akira;
Matsuura, Serina;
Huda, Fathul;
Nakamura, Kazuhiro;
Yanagi, Shigeru;
Shimada, Takashi;
Hirai, Hirokazu

Publication type:

Article

Lithium Chloride Alleviates Neurodegeneration Partly by Inhibiting Activity of GSK3β in a SCA3 Drosophila Model.

Published in:

Cerebellum, 2013, v. 12, n. 6, p. 892, doi. 10.1007/s12311-013-0498-3

By:

Jia, Dan-Dan;
Zhang, Li;
Chen, Zhao;
Wang, Chun-Rong;
Huang, Feng-Zhen;
Duan, Ran-Hui;
Xia, Kun;
Tang, Bei-Sha;
Jiang, Hong

Publication type:

Article

Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology.

Published in:

Cerebellum, 2013, v. 12, n. 4, p. 441, doi. 10.1007/s12311-012-0432-0

By:

Nóbrega, Clévio;
Nascimento-Ferreira, Isabel;
Onofre, Isabel;
Albuquerque, David;
Conceição, Mariana;
Déglon, Nicole;
Almeida, Luís

Publication type:

Article

Hypocretin/orexin prevents recovery from sickness.

Published in:

Biomedical Reports, 2015, p. 648, doi. 10.3892/br.2015.491

By:

SUSUMU TANAKA;
HIROMI TOYODA;
YOSHIKO HONDA;
YASUKO SEKI;
TAKESHI SAKURAI;
KAZUKI HONDA;
TOHRU KODAMA

Publication type:

Article

Machado–Joseph disease with retinal degeneration and dementia.

Published in:

Acta Neurologica Scandinavica, 2001, v. 104, n. 6, p. 402, doi. 10.1034/j.1600-0404.2001.00120.x

By:

Ikeda, K.;
Kubota, S.;
Isashiki, Y.;
Eiraku, N.;
Osame, M.;
Nakagawa, M.

Publication type:

Article