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Select item 69587751.

Assessment of cellular cobalamin metabolism in Gaucher disease

Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz

BMC Med Genet. 2020; 21: 12. Published online 2020 Jan 13. doi: 10.1186/s12881-020-0947-z

PMCID:: PMC6958775

Abstract Article PDF–780K

Select item 66196042.

Progranulin deficiency leads to reduced glucocerebrosidase activity

Xiaolai Zhou, Daniel H. Paushter, Mitchell D. Pagan, Dongsung Kim, Mariela Nunez Santos, Raquel L. Lieberman, Herman S. Overkleeft, Ying Sun, Marcus B. Smolka, Fenghua Hu

PLoS One. 2019; 14(7): e0212382. Published online 2019 Jul 10. doi: 10.1371/journal.pone.0212382

PMCID:: PMC6619604

Abstract Article PDF–2.5M

Select item 63767523.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth

BMC Med Genet. 2019; 20: 31. Published online 2019 Feb 14. doi: 10.1186/s12881-019-0759-1

PMCID:: PMC6376752

Abstract Article PDF–2.9M

Select item 2968424.

High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.

J Sorge, E Gross, C West, E Beutler

J Clin Invest. 1990 Oct; 86(4): 1137–1141. doi: 10.1172/JCI114818

PMCID:: PMC296842

Summary Page Browse PDF–1.0M

Select item 70292465.

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Yoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae-sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo-Won Kim, Tae-Sung Ko, Hyeong‐Seok Lim, Mark J Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee, Han-Wook Yoo

J Med Genet. 2020 Feb; 57(2): 124–131. Published online 2019 Oct 24. doi: 10.1136/jmedgenet-2019-106132

PMCID:: PMC7029246

Abstract Article PDF–941K

Select item 61811796.

Converging Patterns of α-Synuclein Pathology in Multiple System Atrophy

Johannes Brettschneider, EunRan Suh, John L Robinson, Lubin Fang, Edward B Lee, David J Irwin, Murray Grossman, Vivianna M Van Deerlin, Virginia M -Y Lee, John Q Trojanowski

J Neuropathol Exp Neurol. 2018 Nov; 77(11): 1005–1016. Published online 2018 Sep 7. doi: 10.1093/jnen/nly080

PMCID:: PMC6181179

Abstract Article PDF–962K

Select item 61744587.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 59772078.

Validation of Ion Torrent^TM Inherited Disease Panel with the PGM^TM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan

Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267

PMCID:: PMC5977207

Abstract Article PDF–424K

Select item 55374129.

Successful newborn screening for Gaucher disease using fluorometric assay in China

Lulu Kang, Xia Zhan, Xuefan Gu, Huiwen Zhang

J Hum Genet. 2017 Aug; 62(8): 763–768. Published online 2017 Mar 30. doi: 10.1038/jhg.2017.36

PMCID:: PMC5537412

Abstract Article PDF–765K

Select item 510926210.

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

N.V. Ortiz-Cabrera, J. Gallego-Merlo, C. Vélez-Monsalve, R. de Nicolas, S. Fontao Mas, C. Ayuso, M.J. Trujillo-Tiebas

Mol Genet Metab Rep. 2016 Dec; 9: 79–85. Published online 2016 Nov 13. doi: 10.1016/j.ymgmr.2016.06.008

PMCID:: PMC5109262

Abstract Article PDF–2.0M

Select item 499913811.

Comparison of Normal and Pre-Eclamptic Placental Gene Expression: A Systematic Review with Meta-Analysis

O. Brew, M. H. F. Sullivan, A. Woodman

PLoS One. 2016; 11(8): e0161504. Published online 2016 Aug 25. doi: 10.1371/journal.pone.0161504

PMCID:: PMC4999138

Abstract Article PDF–1.3M

Select item 498348812.

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

Joshua T. Geiger, Jinhui Ding, Barbara Crain, Olga Pletnikova, Christopher Letson, Ted M. Dawson, Liana S. Rosenthal, Alexander Pantelyat, J. Raphael Gibbs, Marilyn S. Albert, Dena G. Hernandez, Argye E. Hillis, David J. Stone, Andrew B. Singleton, North American Brain Expression Consortium, John A. Hardy, Juan C. Troncoso, Sonja W. Scholz

Neurobiol Dis. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Neurobiol Dis. 2016 Oct; 94: 55–62. Published online 2016 Jun 14. doi: 10.1016/j.nbd.2016.06.004

PMCID:: PMC4983488

Abstract Article PDF–574K

Select item 457365213.

Splicing: is there an alternative contribution to Parkinson’s disease?

Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro

Neurogenetics. 2015; 16: 245–263. Published online 2015 May 16. doi: 10.1007/s10048-015-0449-x

PMCID:: PMC4573652

Abstract Article PDF–923K

Select item 422805614.

Glucocerebrosidase mutations in primary parkinsonism

Rosanna Asselta, Valeria Rimoldi, Chiara Siri, Roberto Cilia, Ilaria Guella, Silvana Tesei, Giulia Soldà, Gianni Pezzoli, Stefano Duga, Stefano Goldwurm

Parkinsonism Relat Disord. 2014 Nov; 20(11): 1215–1220. doi: 10.1016/j.parkreldis.2014.09.003

PMCID:: PMC4228056

Abstract Article

Select item 363122715.

Remodeling the Proteostasis Network to Rescue Glucocerebrosidase Variants by Inhibiting ER-Associated Degradation and Enhancing ER Folding

Fan Wang, Laura Segatori

PLoS One. 2013; 8(4): e61418. Published online 2013 Apr 19. doi: 10.1371/journal.pone.0061418

PMCID:: PMC3631227

Abstract Article PDF–4.3M

Select item 356567616.

Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

Marina Siebert, Hugo Bock, Kristiane Michelin-Tirelli, Janice C. Coelho, Roberto Giugliani, Maria Luiza Saraiva-Pereira

JIMD Rep. 2013; 9: 7–16. Published online 2012 Oct 9. doi: 10.1007/8904_2012_174

PMCID:: PMC3565676

Abstract Article PDF–1014K

Select item 339850417.

Repression of genes involved in melanocyte differentiation in uveal melanoma

Marjorie-Allison Bergeron, Sophie Champagne, Manon Gaudreault, Alexandre Deschambeault, Solange Landreville

Mol Vis. 2012; 18: 1813–1822. Published online 2012 Jul 4.

PMCID:: PMC3398504

Abstract Article PDF–2.8M

Select item 319975818.

Comparative gene expression profiling of placentas from patients with severe pre-eclampsia and unexplained fetal growth restriction

Haruki Nishizawa, Sayuri Ota, Machiko Suzuki, Takema Kato, Takao Sekiya, Hiroki Kurahashi, Yasuhiro Udagawa

Reprod Biol Endocrinol. 2011; 9: 107. Published online 2011 Aug 2. doi: 10.1186/1477-7827-9-107

PMCID:: PMC3199758

Abstract Article PDF–832K

Select item 312378619.

Identification of Recombinant Alleles Using Quantitative Real-Time PCR: Implications for Gaucher Disease

Arash Velayati, Melanie A. Knight, Barbara K. Stubblefield, Ellen Sidransky, Nahid Tayebi

J Mol Diagn. 2011 Jul; 13(4): 401–405. doi: 10.1016/j.jmoldx.2011.02.005

PMCID:: PMC3123786

Abstract Article PDF–586K

Select item 297062120.

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

Kenya Nishioka, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, Owen A. Ross, Christian Wider, Rachel A. Gibson, Faycal Hentati, Matthew J. Farrer

Neurosci Lett. Author manuscript; available in PMC 2011 Jun 21.

Published in final edited form as: Neurosci Lett. 2010 Jun 21; 477(2): 57–60. Published online 2009 Nov 27. doi: 10.1016/j.neulet.2009.11.066

PMCID:: PMC2970621

Abstract Article PDF–40K

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