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Select item 70141021.

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Bruno Hay Mele, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti

Int J Mol Sci. 2020 Jan; 21(2): 489. Published online 2020 Jan 13. doi: 10.3390/ijms21020489

PMCID:: PMC7014102

Abstract Article PDF–2.5M

Select item 67199482.

Glucose Restriction Plus Refeeding in Vitro Induce Changes of the Human Adipocyte Secretome with an Impact on Complement Factors and Cathepsins

Qi Qiao, Freek G. Bouwman, Marleen A. van Baak, Johan Renes, Edwin C.M. Mariman

Int J Mol Sci. 2019 Aug; 20(16): 4055. Published online 2019 Aug 20. doi: 10.3390/ijms20164055

PMCID:: PMC6719948

Abstract Article PDF–1.1M

Select item 66282973.

Proteomics Analysis of Urine to Examine Physical Effects of Warm Nano Mist Sauna Bathing

Yoshitoshi Hirao, Naohiko Kinoshita, Bo Xu, Suguru Saito, Ali F. Quadery, Amr Elguoshy, Keiko Yamamoto, Tadashi Yamamoto

Healthcare (Basel) 2019 Jun; 7(2): 71. Published online 2019 May 19. doi: 10.3390/healthcare7020071

PMCID:: PMC6628297

Abstract Article PDF–1.6M

Select item 65634714.

UniProt genomic mapping for deciphering functional effects of missense variants

Peter B. McGarvey, Andrew Nightingale, Jie Luo, Hongzhan Huang, Maria J. Martin, Cathy Wu, UniProt Consortium

Hum Mutat. 2019 Jun; 40(6): 694–705. Published online 2019 Apr 3. doi: 10.1002/humu.23738

PMCID:: PMC6563471

Abstract Article PDF–1.5M

Select item 65445675.

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

Sirawit Ittisoponpisan, Suhail A. Islam, Tarun Khanna, Eman Alhuzimi, Alessia David, Michael J.E. Sternberg

J Mol Biol. 2019 May 17; 431(11): 2197–2212. doi: 10.1016/j.jmb.2019.04.009

PMCID:: PMC6544567

Abstract Article PDF–2.3M

Select item 63967346.

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease

Ping Li, Lijuan Zhang, Na Zhao, Qiuhong Xiong, Yong-An Zhou, Changxin Wu, Han Xiao

Front Genet. 2019; 10: 60. Published online 2019 Feb 11. doi: 10.3389/fgene.2019.00060

PMCID:: PMC6396734

Abstract Article PDF–4.2M

Select item 63174767.

Targeted Analysis of Lysosomal Directed Proteins and Their Sites of Mannose-6-phosphate Modification

Tomislav Čaval, Jing Zhu, Weihua Tian, Sanne Remmelzwaal, Zhang Yang, Henrik Clausen, Albert J.R. Heck

Mol Cell Proteomics. 2019 Jan; 18(1): 16–27. Published online 2018 Sep 20. doi: 10.1074/mcp.RA118.000967

PMCID:: PMC6317476

Abstract Article PDF–535K

Select item 62750668.

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

Ana Joana Duarte, Diogo Ribeiro, Luciana Moreira, Olga Amaral

Int J Mol Sci. 2018 Nov; 19(11): 3409. Published online 2018 Oct 31. doi: 10.3390/ijms19113409

PMCID:: PMC6275066

Abstract Article PDF–984K

Select item 62735359.

1-Deoxynojirimycin: Occurrence, Extraction, Chemistry, Oral Pharmacokinetics, Biological Activities and In Silico Target Fishing

Kuo Gao, Chenglong Zheng, Tong Wang, Huihui Zhao, Juan Wang, Zhiyong Wang, Xing Zhai, Zijun Jia, Jianxin Chen, Yingwu Zhou, Wei Wang

Molecules. 2016 Nov; 21(11): 1600. Published online 2016 Nov 23. doi: 10.3390/molecules21111600

PMCID:: PMC6273535

Abstract Article PDF–1.7M

Select item 626695510.

Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, Ludovica Liguori, Maria Vittoria Cubellis, Bruno Hay Mele

BMC Bioinformatics. 2018; 19(Suppl 15): 433. Published online 2018 Nov 30. doi: 10.1186/s12859-018-2416-7

PMCID:: PMC6266955

Abstract Article PDF–733K

Select item 608123211.

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Dominique P. Germain, Eva Brand, Alessandro Burlina, Franco Cecchi, Scott C. Garman, Judy Kempf, Dawn A. Laney, Aleš Linhart, László Maródi, Kathy Nicholls, Alberto Ortiz, Federico Pieruzzi, Suma P. Shankar, Stephen Waldek, Christoph Wanner, Ana Jovanovic

Mol Genet Genomic Med. 2018 Jul; 6(4): 492–503. Published online 2018 Apr 12. doi: 10.1002/mgg3.389

PMCID:: PMC6081232

Abstract Article PDF–1.9M

Select item 605642712.

Urine-derived cells: a promising diagnostic tool in Fabry disease patients

Gisela G. Slaats, Fabian Braun, Martin Hoehne, Laura E. Frech, Linda Blomberg, Thomas Benzing, Bernhard Schermer, Markus M. Rinschen, Christine E. Kurschat

Sci Rep. 2018; 8: 11042. Published online 2018 Jul 23. doi: 10.1038/s41598-018-29240-w

PMCID:: PMC6056427

Abstract Article PDF–4.4M

Select item 602897313.

Nicotiana benthamiana α-galactosidase A1.1 can functionally complement human α-galactosidase A deficiency associated with Fabry disease

Kassiani Kytidou, Jules Beekwilder, Marta Artola, Eline van Meel, Ruud H. P. Wilbers, Geri F. Moolenaar, Nora Goosen, Maria J. Ferraz, Rebecca Katzy, Patrick Voskamp, Bogdan I. Florea, Cornelis H. Hokke, Herman S. Overkleeft, Arjen Schots, Dirk Bosch, Navraj Pannu, Johannes M. F. G. Aerts

J Biol Chem. 2018 Jun 29; 293(26): 10042–10058. Published online 2018 Apr 19. doi: 10.1074/jbc.RA118.001774

PMCID:: PMC6028973

Abstract Article PDF–3.4M

Select item 600359714.

Membranal and blood-soluble HLA class II peptidome analyses using data-dependent and independent acquisition

Danilo Ritz, Emiliano Sani, Hanna Debiec, Pierre Ronco, Dario Neri, Tim Fugmann

Proteomics. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Proteomics. 2018 Jun; 18(12): e1700246. Published online 2018 Mar 14. doi: 10.1002/pmic.201700246

PMCID:: PMC6003597

Abstract Article PDF–879K

Select item 566673115.

E-Learning for Rare Diseases: An Example Using Fabry Disease

Chiara Cimmaruta, Ludovica Liguori, Maria Monticelli, Giuseppina Andreotti, Valentina Citro

Int J Mol Sci. 2017 Oct; 18(10): 2049. Published online 2017 Sep 24. doi: 10.3390/ijms18102049

PMCID:: PMC5666731

Abstract Article PDF–4.7M

Select item 529524016.

Quantitative Proteomic Profiling of Tachyplesin I Targets in U251 Gliomaspheres

Xuan Li, Jianguo Dai, Yongjun Tang, Lulu Li, Gang Jin

Mar Drugs. 2017 Jan; 15(1): 20. Published online 2017 Jan 18. doi: 10.3390/md15010020

PMCID:: PMC5295240

Abstract Article PDF–3.8M

Select item 521057117.

UniProt: the universal protein knowledgebase

The UniProt Consortium

Nucleic Acids Res. 2017 Jan 4; 45(Database issue): D158–D169. Published online 2016 Nov 28. doi: 10.1093/nar/gkw1099

Correction in:: Nucleic Acids Res. 2018 Mar 16; 46(5): 2699.

PMCID:: PMC5210571

Abstract Article PDF–5.6M

Select item 518781018.

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

Valentina Citro, Marco Cammisa, Ludovica Liguori, Chiara Cimmaruta, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti

Int J Mol Sci. 2016 Dec; 17(12): 2010. Published online 2016 Dec 1. doi: 10.3390/ijms17122010

PMCID:: PMC5187810

Abstract Article PDF–933K

Select item 416615919.

MicroRNA-7 Protects against 1-Methyl-4-Phenylpyridinium-Induced Cell Death by Targeting RelA

Doo Chul Choi, Yoon-Jee Chae, Savan Kabaria, Amrita Datta Chaudhuri, Mohit Raja Jain, Hong Li, M. Maral Mouradian, Eunsung Junn

J Neurosci. 2014 Sep 17; 34(38): 12725–12737. doi: 10.1523/JNEUROSCI.0985-14.2014

PMCID:: PMC4166159

Abstract Article PDF–3.7M

Select item 379605720.

An In-Depth Comparison of the Male Pediatric and Adult Urinary Proteomes

John W. Froehlich, Ali R. Vaezzadeh, Marc Kirchner, Andrew C. Briscoe, Oliver Hofmann, Winston Hide, Hanno Steen, Richard S. Lee

Biochim Biophys Acta. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Biochim Biophys Acta. 2014 May; 1844(5): 1044–1050. Published online 2013 May 22. doi: 10.1016/j.bbapap.2013.05.008