PMC Articles for MedGen (Select 854172) - PMC

Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa

Mol Genet Metab Rep. 2017 Mar; 10: 52–55. Published online 2017 Jan 12. doi: 10.1016/j.ymgmr.2017.01.003

PMCID:: PMC5233919

Abstract Article PDF–573K

Select item 68677404.

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review

Qian Zhu, Xiao-Yu Wen, Ming-Yuan Zhang, Qing-Long Jin, Jun-Qi Niu

Medicine (Baltimore) 2019 Nov; 98(46): e17775. Published online 2019 Nov 15. doi: 10.1097/MD.0000000000017775

PMCID:: PMC6867740

Abstract Article PDF–938K

Select item 33187245.

Ca²⁺-dependent GTPase, Extra-large G Protein 2 (XLG2), Promotes Activation of DNA-binding Protein Related to Vernalization 1 (RTV1), Leading to Activation of Floral Integrator Genes and Early Flowering in Arabidopsis

Jae Bok Heo, Sibum Sung, Sarah M. Assmann

J Biol Chem. 2012 Mar 9; 287(11): 8242–8253. Published online 2012 Jan 9. doi: 10.1074/jbc.M111.317412

PMCID:: PMC3318724

Abstract Article PDF–2.4M

Select item 29029006.

Arabidopsis Extra Large G-Protein 2 (XLG2) Interacts with the Gβ Subunit of Heterotrimeric G Protein and Functions in Disease Resistance

Huifen Zhu, Guo-Jing Li, Lei Ding, Xiangqin Cui, Howard Berg, Sarah M. Assmann, Yiji Xia

Mol Plant. 2009 May; 2(3): 513–525. Published online 2009 Feb 25. doi: 10.1093/mp/ssp001

PMCID:: PMC2902900

Abstract Article PDF–455K

Select item 52910117.

EXTRA-LARGE G PROTEINs Interact with E3 Ligases PUB4 and PUB2 and Function in Cytokinin and Developmental Processes

Yiping Wang, Yingying Wu, Boying Yu, Zhao Yin, Yiji Xia

Plant Physiol. 2017 Feb; 173(2): 1235–1246. Published online 2016 Dec 16. doi: 10.1104/pp.16.00816

PMCID:: PMC5291011

Abstract Article PDF–2.0M

Select item 45773758.

Extra-Large G Proteins Expand the Repertoire of Subunits in Arabidopsis Heterotrimeric G Protein Signaling

David Chakravorty, Timothy E. Gookin, Matthew J. Milner, Yunqing Yu, Sarah M. Assmann

Plant Physiol. 2015 Sep; 169(1): 512–529. Published online 2015 Jul 8. doi: 10.1104/pp.15.00251

PMCID:: PMC4577375

Abstract Article PDF–2.3M

Select item 58416909.

The G Protein β-Subunit, AGB1, Interacts with FERONIA in RALF1-Regulated Stomatal Movement

Yunqing Yu, David Chakravorty, Sarah M. Assmann

Plant Physiol. 2018 Mar; 176(3): 2426–2440. Published online 2018 Jan 4. doi: 10.1104/pp.17.01277

PMCID:: PMC5841690

Abstract Article PDF–1.4M

Select item 546915210.

Extra Large G-Protein Interactome Reveals Multiple Stress Response Function and Partner-Dependent XLG Subcellular Localization

Ying Liang, Yajun Gao, Alan M. Jones

Front Plant Sci. 2017; 8: 1015. Published online 2017 Jun 13. doi: 10.3389/fpls.2017.01015

PMCID:: PMC5469152

Abstract Article PDF–4.3M

Select item 660697811.

A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia

Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao

JIMD Rep. 2019 Jul; 48(1): 15–18. Published online 2019 May 28. doi: 10.1002/jmd2.12041

PMCID:: PMC6606978

Abstract Article PDF–619K

Select item 649882312.

Glycogen storage disease presenting as Cushing syndrome

Margaret A. Stefater, Joseph I. Wolfsdorf, Nina S. Ma, Joseph A. Majzoub

JIMD Rep. 2019 May; 47(1): 17–22. Published online 2019 Apr 3. doi: 10.1002/jmd2.12031

PMCID:: PMC6498823

Abstract Article PDF–1.0M

Select item 476637813.

Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth

Brain. 2016 Mar; 139(3): 765–781. Published online 2016 Feb 17. doi: 10.1093/brain/awv393

PMCID:: PMC4766378

Abstract Article PDF–1.7M

Select item 483906814.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Rihwa Choi, Hyung-Doo Park, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe

BMC Med Genet. 2016; 17: 33. Published online 2016 Apr 21. doi: 10.1186/s12881-016-0295-1

PMCID:: PMC4839068

Abstract Article PDF–954K

Select item 434100715.

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Carin M. van Gelder, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Iris Plug, Ans T. van der Ploeg, Arnold J. J. Reuser

J Inherit Metab Dis. 2015; 38(2): 305–314. Published online 2014 Apr 9. doi: 10.1007/s10545-014-9707-6

PMCID:: PMC4341007

Abstract Article PDF–388K

Select item 410625716.

CLINICAL OUTCOME AND PHENOTYPIC EXPRESSION IN LAMP2 CARDIOMYOPATHY

Barry J. Maron, William C. Roberts, Michael Arad, Tammy S. Haas, Paolo Spirito, Gregory B. Wright, Adrian K. Almquist, Jeanne M. Baffa, J. Philip Saul, Carolyn Y. Ho, Jonathan Seidman, Christine E. Seidman

JAMA. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: JAMA. 2009 Mar 25; 301(12): 1253–1259. doi: 10.1001/jama.2009.371

PMCID:: PMC4106257

Abstract Article PDF–697K

Select item 531816317.

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Susan Elliott, Norman Buroker, Jason J. Cournoyer, Anna M. Potier, Joseph D. Trometer, Carole Elbin, Mack J. Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott

Mol Genet Metab. Author manuscript; available in PMC 2017 Feb 20.

Published in final edited form as: Mol Genet Metab. 2016 Aug; 118(4): 304–309. Published online 2016 May 20. doi: 10.1016/j.ymgme.2016.05.015

PMCID:: PMC5318163

Abstract Article PDF–503K

Select item 385182518.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini, Giuseppe Di Iorio

Orphanet J Rare Dis. 2013; 8: 159. Published online 2013 Oct 10. doi: 10.1186/1750-1172-8-159

PMCID:: PMC3851825

Abstract Article PDF–2.6M

Select item 404799919.

Long-Term Efficacy Following Readministration of an Adeno-Associated Virus Vector in Dogs with Glycogen Storage Disease Type Ia

Amanda Demaster, Xiaoyan Luo, Sarah Curtis, Kyha D. Williams, Dustin J. Landau, Elizabeth J. Drake, Daniel M. Kozink, Andrew Bird, Bayley Crane, Francis Sun, Carlos R. Pinto, Talmage T. Brown, Alex R. Kemper, Dwight D. Koeberl

Hum Gene Ther. 2012 Apr; 23(4): 407–418. Published online 2011 Dec 20. doi: 10.1089/hum.2011.106

PMCID:: PMC4047999

Abstract Article PDF–1.2M

Select item 553828220.

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá

J Lipid Res. 2017 Aug; 58(8): 1598–1612. Published online 2017 Jun 19. doi: 10.1194/jlr.M075531

PMCID:: PMC5538282

Abstract Article PDF–2.1M

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