PMC Links for GEO Profiles (Select 67232615) - PMC

Select item 62133361.

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 47669942.

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases

André R. A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, Cindy P. A. A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts

J Lipid Res. 2016 Mar; 57(3): 451–463. doi: 10.1194/jlr.M064923

PMCID:: PMC4766994

Abstract Article PDF–1.2M

Select item 43724353.

Accumulation of Glucosylceramide in the Absence of the Beta-Glucosidase GBA2 Alters Cytoskeletal Dynamics

Diana Raju, Sophie Schonauer, Hussein Hamzeh, Kevin C. Flynn, Frank Bradke, Katharina vom Dorp, Peter Dörmann, Yildiz Yildiz, Christian Trötschel, Ansgar Poetsch, Bernadette Breiden, Konrad Sandhoff, Heinz G. Körschen, Dagmar Wachten

PLoS Genet. 2015 Mar; 11(3): e1005063. Published online 2015 Mar 24. doi: 10.1371/journal.pgen.1005063

PMCID:: PMC4372435

Abstract Article PDF–4.3M

Select item 35672714.

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

PMCID:: PMC3567271

Abstract Article PDF–752K

Select item 35615575.

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 31780596.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 16261127.

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 5289288.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 1392419.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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