Works matching DE "SARCOGLYCANS"

Results: 56

Expression of Sarcoglycans in the Human Cerebral Cortex: An Immunohistochemical and Molecular Study.

Published in:

Cells Tissues Organs, 2012, v. 196, n. 5, p. 470, doi. 10.1159/000336842

By:

Anastasi, Giuseppe;
Tomasello, Francesco;
Di Mauro, Debora;
Cutroneo, Giuseppina;
Favaloro, Angelo;
Conti, Alfredo;
Ruggeri, Alessia;
Rinaldi, Carmela;
Trimarchi, Fabio

Publication type:

Article

Sarcoglycans in the Normal and Pathological Breast Tissue of Humans: An Immunohistochemical and Molecular Study.

Published in:

Cells Tissues Organs, 2012, v. 195, n. 6, p. 550, doi. 10.1159/000329508

By:

Arco, Alba;
Favaloro, Angelo;
Gioffrè, Mara;
Santoro, Giuseppe;
Speciale, Francesco;
Vermiglio, Giovanna;
Cutroneo, Giuseppina

Publication type:

Article

N-Glycolylneuraminic acid deficiency worsens cardiac and skeletal muscle pathophysiology in α-sarcoglycan-deficient mice.

Published in:

Glycobiology, 2013, v. 23, n. 7, p. 833, doi. 10.1093/glycob/cwt020

By:

Martin, Paul T;
Camboni, Marybeth;
Xu, Rui;
Golden, Bethannie;
Chandrasekharan, Kumaran;
Wang, Chiou-Miin;
Varki, Ajit;
Janssen, Paul M L

Publication type:

Article

Sarcoglycan Alpha Mitigates Neuromuscular Junction Decline in Aged Mice by Stabilizing LRP4.

Published in:

Journal of Neuroscience, 2018, v. 38, n. 41, p. 8860, doi. 10.1523/JNEUROSCI.0860-18.2018

By:

Kai Zhao;
Chengyong Shen;
Lei Li;
Haitao Wu;
Guanglin Xing;
Zhaoqi Dong;
Hongyang Jing;
Wenbing Chen;
Hongsheng Zhang;
Zhibing Tan;
Jinxiu Pan;
Lei Xiong;
Hongsheng Wang;
Wanpeng Cui;
Xiang-Dong Sun;
Shihua Li;
Xinping Huang;
Wen-Cheng Xiong;
Lin Mei

Publication type:

Article

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

Published in:

Cell & Tissue Research, 2014, v. 356, n. 2, p. 427, doi. 10.1007/s00441-014-1854-4

By:

Gibertini, Sara;
Zanotti, Simona;
Savadori, Paolo;
Curcio, Maurizio;
Saredi, Simona;
Salerno, Franco;
Andreetta, Francesca;
Bernasconi, Pia;
Mantegazza, Renato;
Mora, Marina

Publication type:

Article

Sarcoglycan subcomplex and Alpha-Dystroglycan in human digestive tract: immunofluorescence analysis.

Published in:

2018

By:

Rizzo, Giuseppina;
Santoro, Giuseppe;
Pantè, Grazia Giulia;
Previti, Claudia;
Favaloro, Angelo

Publication type:

Abstract

Sarcoglycan sub-complex in the adipose organ: a molecular and immunofluorescence study.

Published in:

2017

By:

Cinti, Saverio;
Rizzo, Giuseppina;
Vermiglio, Giovanna;
Spoto, Cecilia;
Centofanti, Antonio;
Cutroneo, Giuseppina

Publication type:

Abstract

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 368, doi. 10.1111/cge.12075

By:

Sheridan, MB;
Bytyci Telegrafi, A;
Stinnett, V;
Umeh, CC;
Mari, Z;
Dawson, TM;
Bodurtha, J;
Batista, DAS

Publication type:

Article

S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 119, doi. 10.1038/ejhg.2013.97

By:

Rutschow, Désirée;
Bauer, Ralf;
Göhringer, Caroline;
Bekeredjian, Raffi;
Schinkel, Stefanie;
Straub, Volker;
Koenen, Michael;
Weichenhan, Dieter;
Katus, Hugo A;
Müller, Oliver J

Publication type:

Article

Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options.

Published in:

Russian Journal of Genetics, 2018, v. 54, n. 2, p. 129, doi. 10.1134/S1022795418020059

By:

Bulakh, M. V.;
Ryzhkova, O. P.;
Polyakov, A. V.

Publication type:

Article

Founder Mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster.

Published in:

Canadian Journal of Neurological Sciences, 2011, v. 38, n. 5, p. 747

By:

Tétreault, M.;
Srour, M.;
Allyson, J.;
Thiffault, I.;
Loisel, L.;
Robitaille, Y.;
Bouchard, J. P.;
Brais, B.

Publication type:

Article

Changes in vascular reactivity of the coronary artery and thoracic aorta in the delta sarcoglycan null mutant mice.

Published in:

Physiology & Pharmacology, 2017, v. 21, n. 4, p. 322

By:

Castillo-Hernandez, Maria C.;
Guevara-Balcazar, Gustavo;
Kormanovski, Alexandre;
Rubio Gayosso, Ivan;
Coral-Vazquez, Ramon M.

Publication type:

Article

Significant Association Between Variant in SGCD and Age-Related Macular Degeneration.

Published in:

Genes, 2018, v. 9, n. 10, p. 467, doi. 10.3390/genes9100467

By:

Perez-Ortiz, Andric Christopher;
Luna-Angulo, Alexandra;
Zenteno, Juan Carlos;
Rendon, Alvaro;
Cortes-Ballinas, Liliana Guadalupe;
Jimenez-Collado, David;
Antonio-Aguirre, Bani;
Peralta-Ildefonso, Martha Janneth;
Ramírez, Israel;
Jacob-Kuttothara, Stefany;
Estrada-Mena, Francisco Javier

Publication type:

Article

Blockade of sarcolemmal TRPV2 accumulation inhibits progression of dilated cardiomyopathy.

Published in:

Cardiovascular Research, 2013, v. 99, n. 4, p. 760, doi. 10.1093/cvr/cvt163

By:

Iwata, Yuko;
Ohtake, Hitomi;
Suzuki, Osamu;
Matsuda, Junichiro;
Komamura, Kazuo;
Wakabayashi, Shigeo

Publication type:

Article

Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.

Published in:

2016

By:

Multani, Namita;
Moro, Elena;
Lang, Anthony;
Zurowski, Mateusz;
Duff Canning, Sarah;
Tartaglia, Maria Carmela

Publication type:

journal article

β-Sarcoglycan Deficiency Reduces Atherosclerotic Plaque Development in ApoE-Null Mice.

Published in:

Journal of Vascular Research, 2017, v. 54, n. 4, p. 235, doi. 10.1159/000478014

By:

Murugesan, Vignesh;
Degerman, Eva;
Holmen-Pålbrink, ann-Kristin;
Duner, Pontus;
Knutsson, anki;
Hultgårdh-Nilsson, anna;
Rauch, Uwe

Publication type:

Article

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Published in:

Journal of Neurology, 2014, v. 261, n. 2, p. 358, doi. 10.1007/s00415-013-7203-9

By:

Haugarvoll, Kristoffer;
Tzoulis, Charalampos;
Tran, Gia;
Karlsen, Bjørn;
Engelsen, Bernt;
Knappskog, Per;
Bindoff, Laurence

Publication type:

Article

Different outcome of sarcoglycan missense mutation between human and mouse.

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191274

By:

Henriques, Sara F.;
Patissier, Cécile;
Bourg, Nathalie;
Fecchio, Chiara;
Sandona, Doriana;
Marsolier, Justine;
Richard, Isabelle

Publication type:

Article

Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies.

Published in:

Journal of Dr. Behcet Uz Children's Hospital, 2017, v. 7, n. 3, p. 247, doi. 10.5222/buchd.2017.247

By:

DİNİZ, Gülden;
ÖZGÖNÜL, Figen;
UNALP, Aycan;
HAZAN, Filiz;
TÜRE, Sabiha;
AKHAN, Galip

Publication type:

Article

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 2, p. 239, doi. 10.1007/s00431-013-2151-z

By:

Ceravolo, Ferdinando;
Messina, Sonia;
Rodolico, Carmelo;
Strisciuglio, Pietro;
Concolino, Daniela

Publication type:

Article

Screening proteins that interact with mutant superoxide dismutase 1 from familial amyotrophic lateral sclerosis using a yeast two-hybrid system.

Published in:

Neural Regeneration Research, 2011, v. 6, n. 26, p. 2013, doi. 10.3969/j.issn.1673-5374. 2011.26.002

By:

Guisheng Chen;
Shugui Shi;
Lusi Li;
Kangning Chen;
Ju Hu;
Zhenhua Zhou;
Jun Wu;
Gaoxing Luo;
Shunzong Yuan;
Xu Peng

Publication type:

Article

Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.

Published in:

2016

By:

Jain, Puneet;
Sharma, Suvasini;
van Ruissen, Fred;
Aneja, Satinder

Publication type:

journal article

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F.

Published in:

Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0127-9

By:

Peter, Angela K.;
Miller, Gaynor;
Capote, Joana;
Difranco, Marino;
Solares-Pérez, Alhondra;
Wang, Emily L.;
Heighway, Jim;
Coral-Vázquez, Ramón M.;
Vergara, Julio;
Crosbie-Watson, Rachelle H.

Publication type:

Article

Absence of γ-sarcoglycan alters the response of p70S6 kinase to mechanical perturbation in murine skeletal muscle.

Published in:

Skeletal Muscle, 2014, v. 4, n. 1, p. 1, doi. 10.1186/2044-5040-4-13

By:

Moorwood, Catherine;
Philippou, Anastassios;
Spinazzola, Janelle;
Keyser, Benjamin;
Macarak, Edward J.;
Barton, Elisabeth R.

Publication type:

Article

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

Published in:

Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-3

By:

Blandin, Gaëlle;
Marchand, Sylvie;
Charton, Karine;
Danièle, Nathalie;
Gicquel, Evelyne;
Boucheteil, Jean-Baptiste;
Bentaib, Azéddine;
Barrault, Laetitia;
Stockholm, Daniel;
Bartoli, Marc;
Richard, Isabelle

Publication type:

Article

Leaky ryanodine receptors in ß-sarcoglycan deficient mice: a potential common defect in muscular dystrophy.

Published in:

Skeletal Muscle, 2012, v. 2, n. 1, p. 1, doi. 10.1186/2044-5040-2-9

By:

Andersson, Daniel C.;
Meli, Albano C.;
Reiken, Steven;
Betzenhauser, Matthew J.;
Umanskaya, Alisa;
Shiomi, Takayuki;
D'Armiento, Jeanine;
Marks, Andrew R.

Publication type:

Article

The administration of high-mobility group box 1 fragment prevents deterioration of cardiac performance by enhancement of bone marrow mesenchymal stem cell homing in the delta-sarcoglycan-deficient hamster.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0202838

By:

Kido, Takashi;
Miyagawa, Shigeru;
Goto, Takasumi;
Tamai, Katsuto;
Ueno, Takayoshi;
Toda, Koichi;
Kuratani, Toru;
Sawa, Yoshiki

Publication type:

Article

Characterization of the dystrophin-glycoprotein complex in airway smooth muscle: role of δ-sarcoglycan in airway responsiveness<sup>1</sup>.

Published in:

Canadian Journal of Physiology & Pharmacology, 2015, v. 93, n. 3, p. 195, doi. 10.1139/cjpp-2014-0389

By:

Sharma, Pawan;
Jha, Aruni;
Stelmack, Gerald L.;
Detillieux, Karen;
Basu, Sujata;
Klonisch, Thomas;
Unruh, Helmut;
Halayko, Andrew J.

Publication type:

Article

Analysis on sarcoglycans expression as markers of septic cardiomyopathy in sepsis-related death.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 6, p. 1685, doi. 10.1007/s00414-018-1840-6

By:

Ventura Spagnolo, Elvira;
Mondello, Cristina;
Di Mauro, Debora;
Vermiglio, Giovanna;
Asmundo, Alessio;
Filippini, Elena;
Alibrandi, Angela;
Rizzo, Giuseppina

Publication type:

Article

Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.

Published in:

2023

By:

Shpiner, Danielle S.;
Peabody, Taylor K.;
Luca, Corneliu C.;
Jagid, Jonathan;
Moore, Henry

Publication type:

Case Study

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.

Published in:

2023

By:

Higinbotham, Alissa S.;
DeBrosse, Suzanne D.;
Kilbane, Camilla W.

Publication type:

Case Study

Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.656

By:

Haeri, Ghazal;
Shahidi, Gholamali;
Fasano, Alfonso;
Rohani, Mohammad

Publication type:

Article

Simultaneous Pathoproteomic Evaluation of the Dystrophin-Glycoprotein Complex and Secondary Changes in the mdx-4cv Mouse Model of Duchenne Muscular Dystrophy.

Published in:

Biology (2079-7737), 2015, v. 4, n. 2, p. 397, doi. 10.3390/biology4020397

By:

Murphy, Sandra;
Henry, Michael;
Meleady, Paula;
Zweyer, Margit;
Mundegar, Rustam R.;
Swandulla, Dieter;
Ohlendieck, Kay

Publication type:

Article

Sarcoglycanopathy - A Rare Case Report and Literature Review.

Published in:

2014

By:

MUSTAFA, EKRAMUL;
HASAN KHANDAKER, MD AZIZUL;
RASHID, MD. MAMUNUR;
GHOSE, SWAPON KUMAR;
CHOWDHURY, MOSTOFA KAMAL

Publication type:

Case Study

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 294, doi. 10.1093/brain/aws308

By:

Peall, Kathryn J.;
Smith, Daniel J.;
Kurian, Manju A.;
Wardle, Mark;
Waite, Adrian J.;
Hedderly, Tammy;
Lin, Jean-Pierre;
Smith, Martin;
Whone, Alan;
Pall, Hardev;
White, Cathy;
Lux, Andrew;
Jardine, Philip;
Bajaj, Narinder;
Lynch, Bryan;
Kirov, George;
O’Riordan, Sean;
Samuel, Michael;
Lynch, Timothy;
King, Mary D.

Publication type:

Article

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 483, doi. 10.1093/brain/awr342

By:

Herson, Serge;
Hentati, Faycal;
Rigolet, Aude;
Behin, Anthony;
Romero, Norma B.;
Leturcq, France;
Laforêt, Pascal;
Maisonobe, Thierry;
Amouri, Rim;
Haddad, Hafedh;
Audit, Muriel;
Montus, Marie;
Masurier, Carole;
Gjata, Bernard;
Georger, Christophe;
Cheraï, Mustapha;
Carlier, Pierre;
Hogrel, Jean-Yves;
Herson, Ariane;
Allenbach, Yves

Publication type:

Article

Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.

Published in:

2017

By:

Weissbach, Anne;
Werner, Elisa;
Bally, Julien F.;
Tunc, Sinem;
Löns, Sebastian;
Timmann, Dagmar;
Zeuner, Kirsten E.;
Tadic, Vera;
Brüggemann, Norbert;
Lang, Anthony;
Klein, Christine;
Münchau, Alexander;
Bäumer, Tobias

Publication type:

journal article

Genetic variation at the delta-sarcoglycan ( SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.

Published in:

Journal of Neurochemistry, 2013, v. 127, n. 6, p. 750, doi. 10.1111/jnc.12346

By:

Makena Hightower, C.;
Zhang, Kuixing;
Miramontes‐González, José P.;
Rao, Fangwen;
Wei, Zhiyun;
Schork, Andrew J.;
Nievergelt, Caroline M.;
Biswas, Nilima;
Mahata, Manjula;
Elkelis, Nina;
Taupenot, Laurent;
Stridsberg, Mats;
Ziegler, Michael G.;
O'Connor, Daniel T.

Publication type:

Article

A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.

Published in:

Neurological Research, 2016, v. 38, n. 3, p. 220, doi. 10.1080/01616412.2015.1105625

By:

Mojbafan, Marzieh;
Nilipour, Yalda;
Tonekaboni, Seyed Hasan;
Tavakkoly-Bazzaz, Javad;
Zeinali, Sirous

Publication type:

Article

A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.

Published in:

PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145602

By:

Chen, Jie;
Jin, Ye;
Wang, Hong;
Wei, Sisi;
Chen, Dan;
Ying, Li;
Zhou, Qing;
Li, Gang;
Li, Joyce;
Gao, Jimin;
Kato, Naoya;
Hu, Wei;
Li, Yigang;
Wang, Yuepeng

Publication type:

Article

Muscle Releases Alpha-Sarcoglycan Positive Extracellular Vesicles Carrying miRNAs in the Bloodstream.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0125094

By:

Guescini, Michele;
Canonico, Barbara;
Lucertini, Francesco;
Maggio, Serena;
Annibalini, Giosué;
Barbieri, Elena;
Luchetti, Francesca;
Papa, Stefano;
Stocchi, Vilberto

Publication type:

Article

The CC Genotype of the Delta-Sarcoglycan Gene Polymorphism rs13170573 Is Associated with Obstructive Sleep Apnea in the Chinese Population.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114160

By:

Ye, Rensong;
Yang, Wenlan;
Yuan, Yiming;
Deng, Xingqi

Publication type:

Article

Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024729

By:

Rotundo, Ida Luisa;
Faraso, Stefania;
De Leonibus, Elvira;
Nigro, Gerardo;
Vitiello, Carmen;
Lancioni, Alessio;
Di Napoli, Daniele;
Castaldo, Sigismondo;
Russo, Vincenzo;
Russo, Fabio;
Piluso, Giulio;
Auricchio, Alberto;
Nigro, Vincenzo

Publication type:

Article

Angiotensin-dependent autonomic dysregulation precedes dilated cardiomyopathy in a mouse model of muscular dystrophy.

Published in:

Experimental Physiology, 2015, v. 100, n. 7, p. 776, doi. 10.1113/EP085066

By:

Sabharwal, Rasna;
Weiss, Robert M.;
Zimmerman, Kathy;
Domenig, Oliver;
Cicha, Michael Z.;
Chapleau, Mark W.

Publication type:

Article

Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system.

Published in:

Experimental Physiology, 2014, v. 99, n. 4, p. 627, doi. 10.1113/expphysiol.2013.074336

By:

Sabharwal, Rasna;
Chapleau, Mark W.

Publication type:

Article

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene.

Published in:

2014

By:

Roberts, Jennifer L.;
Gandomi, Stephanie K.;
Parra, Melissa;
Lu, Ira;
Chia-Ling Gau;
Dasouki, Majed;
Butler, Merlin G.

Publication type:

Case Study

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene.

Published in:

2014

By:

Diniz, Gulden;
Yildirim, Hulya Tosun;
Gokben, Sarenur;
Serdaroglu, Gul;
Hazan, Filiz;
Yararbas, Kanay;
Tukun, Ajlan

Publication type:

Case Study

Histopathological and Genetic Features of Patients with Limb Girdle Muscular Dystrophy Type 2C.

Published in:

Turkish Journal of Pathology, 2014, v. 30, n. 2, p. 111, doi. 10.5146/tjpath.2014.01239

By:

DİNİZ, Gülden;
HAZAN, Filiz;
TOSUN YILDIRIM, Hülya;
ÜNALP, Aycan;
POLAT, Muzaffer;
SERDA ROĞLU, Gül;
GÜZEL, Orkide;
BAĞ, Özlem;
SEÇİL, Yaprak;
ÖZGÖNÜL, Figen;
TÜRE, Sabiha;
AKHAN, Galip;
TÜKÜN, Ajlan

Publication type:

Article

The Sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels.

Published in:

Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00009

By:

Boulay, Anne-Cécile;
Saubaméa, Bruno;
Cisternino, Salvatore;
Mignon, Virginie;
Mazeraud, Aurélien;
Jourdren, Laurent;
Blugeon, Corinne;
Cohen-Salmon, Martine

Publication type:

Article

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Published in:

2019

By:

Xie, Zhiying;
Hou, Yue;
Yu, Meng;
Liu, Yilin;
Fan, Yanbin;
Zhang, Wei;
Wang, Zhaoxia;
Xiong, Hui;
Yuan, Yun

Publication type:

journal article