PMC Links for Gene (Select 57704) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 34

<< First< Prev

Page of 2

Select item 72696131.

Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation

Saki Sultana, Jacklyn Stewart, Aarnoud C. van der Spoel

PLoS One. 2020; 15(6): e0233856. Published online 2020 Jun 3. doi: 10.1371/journal.pone.0233856

PMCID:: PMC7269613

Abstract Article PDF–4.2M

Select item 57331902.

Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells

Domitilla Schiumarini, Nicoletta Loberto, Giulia Mancini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Maura Samarani, Silvia Munari, Anna Tamanini, Giulio Cabrini, Giuseppe Lippi, Maria Cristina Dechecchi, Sandro Sonnino, Massimo Aureli

Mediators Inflamm. 2017; 2017: 1730245. Published online 2017 Dec 3. doi: 10.1155/2017/1730245

PMCID:: PMC5733190

Abstract Article PDF–2.4M

Select item 52157003.

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Kristoffer Haugarvoll, Stefan Johansson, Carlos E. Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A. Bindoff

PLoS One. 2017; 12(1): e0169309. Published online 2017 Jan 4. doi: 10.1371/journal.pone.0169309

PMCID:: PMC5215700

Abstract Article PDF–1.8M

Select item 49495814.

Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2)

Ratana Charoenwattanasatien, Salila Pengthaisong, Imogen Breen, Risa Mutoh, Sompong Sansenya, Yanling Hua, Anupong Tankrathok, Liang Wu, Chomphunuch Songsiriritthigul, Hideaki Tanaka, Spencer J. Williams, Gideon J. Davies, Genji Kurisu, James R. Ketudat Cairns

ACS Chem Biol. 2016 Jul 15; 11(7): 1891–1900. Published online 2016 Apr 26. doi: 10.1021/acschembio.6b00192

PMCID:: PMC4949581

Abstract Article PDF–5.0M

Select item 64220765.

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations

Marina A. Woeste, Sina Stern, Diana N. Raju, Elena Grahn, Dominik Dittmann, Katharina Gutbrod, Peter Dörmann, Jan N. Hansen, Sophie Schonauer, Carina E. Marx, Hussein Hamzeh, Heinz G. Körschen, Johannes M. F. G. Aerts, Wolfgang Bönigk, Heike Endepols, Roger Sandhoff, Matthias Geyer, Thomas K. Berger, Frank Bradke, Dagmar Wachten

J Biol Chem. 2019 Mar 15; 294(11): 3853–3871. Published online 2019 Jan 20. doi: 10.1074/jbc.RA118.006311

PMCID:: PMC6422076

Abstract Article PDF–4.1M

Select item 62133366.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou

Int J Mol Sci. 2018 Oct; 19(10): 3099. Published online 2018 Oct 10. doi: 10.3390/ijms19103099

PMCID:: PMC6213336

Abstract Article PDF–1.2M

Select item 53917497.

Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease

Sophie Schonauer, Heinz G. Körschen, Anke Penno, Andreas Rennhack, Bernadette Breiden, Konrad Sandhoff, Katharina Gutbrod, Peter Dörmann, Diana N. Raju, Per Haberkant, Mathias J. Gerl, Britta Brügger, Hila Zigdon, Ayelet Vardi, Anthony H. Futerman, Christoph Thiele, Dagmar Wachten

J Biol Chem. 2017 Apr 14; 292(15): 6177–6189. Published online 2017 Mar 3. doi: 10.1074/jbc.M116.762831

PMCID:: PMC5391749

Abstract Article PDF–1.8M

Select item 49825438.

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

Caroline Ran, Lovisa Brodin, Lars Forsgren, Marie Westerlund, Mehrafarin Ramezani, Sandra Gellhaar, Fengqing Xiang, Camilla Fardell, Hans Nissbrandt, Peter Söderkvist, Andreas Puschmann, Emil Ygland, Lars Olson, Thomas Willows, Anders Johansson, Olof Sydow, Karin Wirdefeldt, Dagmar Galter, Per Svenningsson, Andrea Carmine Belin

Neurobiol Aging. 2016 Sep; 45: 212.e5–212.e11. doi: 10.1016/j.neurobiolaging.2016.04.022

PMCID:: PMC4982543

Abstract Article

Select item 38508799.

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen

Orphanet J Rare Dis. 2013; 8: 151. Published online 2013 Sep 26. doi: 10.1186/1750-1172-8-151

PMCID:: PMC3850879

Abstract Article PDF–509K

Select item 297061510.

Glucosidase-beta variations and Lewy Body Disorders

Matthew J. Farrer, Lindsey N. Williams, Avi A. Algom, Jennifer Kachergus, Mary M. Hulihan, Owen A. Ross, Alex Rajput, Spiridon Papapetropoulos, Deborah C. Mash, Dennis W. Dickson

Parkinsonism Relat Disord. Author manuscript; available in PMC 2010 Nov 2.

Published in final edited form as: Parkinsonism Relat Disord. 2009 Jul; 15(6): 414–416. Published online 2008 Oct 1. doi: 10.1016/j.parkreldis.2008.08.004

PMCID:: PMC2970615

Abstract Article PDF–57K

Select item 376480911.

β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology

Christina M. Ridley, Karen E. Thur, Jessica Shanahan, Nagendra Babu Thillaiappan, Ann Shen, Karly Uhl, Charlotte M. Walden, Ahad A. Rahim, Simon N. Waddington, Frances M. Platt, Aarnoud C. van der Spoel

J Biol Chem. 2013 Sep 6; 288(36): 26052–26066. Published online 2013 Jul 23. doi: 10.1074/jbc.M113.463562

PMCID:: PMC3764809

Abstract Article PDF–3.0M

Select item 356155712.

The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi

Heinz G. Körschen, Yildiz Yildiz, Diana Nancy Raju, Sophie Schonauer, Wolfgang Bönigk, Vera Jansen, Elisabeth Kremmer, U. Benjamin Kaupp, Dagmar Wachten

J Biol Chem. 2013 Feb 1; 288(5): 3381–3393. Published online 2012 Dec 17. doi: 10.1074/jbc.M112.414714

PMCID:: PMC3561557

Abstract Article PDF–3.4M

Select item 162611213.

Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility

Yildiz Yildiz, Heidrun Matern, Bonne Thompson, Jeremy C. Allegood, Rebekkah L. Warren, Denise M.O. Ramirez, Robert E. Hammer, F. Kent Hamra, Siegfried Matern, David W. Russell

J Clin Invest. 2006 Nov 1; 116(11): 2985–2994. Published online 2006 Nov 1. doi: 10.1172/JCI29224

PMCID:: PMC1626112

Abstract Article PDF–1.0M

Select item 352940714.

Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans

Klaus Harzer, Yotam Blech-Hermoni, Ehud Goldin, Ursula Felderhoff-Mueser, Claudia Igney, Ellen Sidransky, Yildiz Yildiz

Biochem Biophys Res Commun. Author manuscript; available in PMC 2013 Jun 29.

Published in final edited form as: Biochem Biophys Res Commun. 2012 Jun 29; 423(2): 308–312. Published online 2012 May 30. doi: 10.1016/j.bbrc.2012.05.117

PMCID:: PMC3529407

Abstract Article PDF–1.3M

Select item 15401115.

Hyperglycosylated Mutants of Human Immunodeficiency Virus (HIV) Type 1 Monomeric gp120 as Novel Antigens for HIV Vaccine Design

Ralph Pantophlet, Ian A. Wilson, Dennis R. Burton

J Virol. 2003 May; 77(10): 5889–5901. doi: 10.1128/JVI.77.10.5889-5901.2003

PMCID:: PMC154011

Abstract Article PDF–1.0M

Select item 356727116.

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L. Loureiro, Michael A. Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner, Ludmila Jornea, Andrés Caballero Oteyza, Alexandra Durr, Jean-Jacques Martin, Ludger Schöls, Chokri Mhiri, Foudil Lamari, Stephan Züchner, Peter De Jonghe, Edor Kabashi, Alexis Brice, Giovanni Stevanin

Am J Hum Genet. 2013 Feb 7; 92(2): 238–244. doi: 10.1016/j.ajhg.2012.11.021