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Items: 1 to 20 of 51

1.
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition
Leelamma M Panicker, Manasa P Srikanth, Thiago Castro-Gomes, Diana Miller, Norma W Andrews, Ricardo A Feldman
Hum Mol Genet. 2018 Mar 1; 27(5): 811–822. Published online 2018 Jan 2. doi: 10.1093/hmg/ddx442
PMCID:
PMC6454561
AbstractArticlePDF–1.1M
2.
A Conserved Circular Network of Coregulated Lipids Modulates Innate Immune Responses
Marielle S. Köberlin, Berend Snijder, Leonhard X. Heinz, Christoph L. Baumann, Astrid Fauster, Gregory I. Vladimer, Anne-Claude Gavin, Giulio Superti-Furga
Cell. 2015 Jul 2; 162(1): 170–183. doi: 10.1016/j.cell.2015.05.051
PMCID:
PMC4523684
AbstractArticle
3.
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders
Hamid Saranjam, Sameer S Chopra, Harvey Levy, Barbara K Stubblefield, Emerson Maniwang, Ian J Cohen, Hagit Baris, Ellen Sidransky, Nahid Tayebi
Eur J Hum Genet. 2013 Jan; 21(1): 115–117. Published online 2012 Jun 20. doi: 10.1038/ejhg.2012.105
PMCID:
PMC3522207
AbstractArticlePDF–344K
4.
Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase
Marko Jović, Michelle J. Kean, Zsofia Szentpetery, Gordon Polevoy, Anne-Claude Gingras, Julie A. Brill, Tamas Balla
Mol Biol Cell. 2012 Apr 15; 23(8): 1533–1545. doi: 10.1091/mbc.E11-06-0553
PMCID:
PMC3327330
AbstractArticlePDF–1.9M
5.
Gaucher’s Disease Glucocerebrosidase and <alpha>-synuclein form a bidirectional pathogenic loop in synucleinopathies
Joseph R. Mazzulli, You-Hai Xu, Ying Sun, Adam L. Knight, Pamela J. McLean, Guy A. Caldwell, Ellen Sidransky, Gregory A. Grabowski, Dimitri Krainc
Cell. Author manuscript; available in PMC 2012 Jul 8.
Published in final edited form as: Cell. 2011 Jul 8; 146(1): 37–52. Published online 2011 Jun 23. doi: 10.1016/j.cell.2011.06.001
PMCID:
PMC3132082
AbstractArticlePDF–5.4M
6.
Multi-center analysis of glucocerebrosidase mutations in Parkinson disease
Ellen Sidransky, Michael A. Nalls, Jan O. Aasly, Judith Aharon-Peretz, Grazia Annesi, Egberto Reis Barbosa, Anat Bar-Shira, Daniela Berg, Jose Bras, Alexis Brice, Chiung-Mei Chen, Lorraine N. Clark, Christel Condroyer, Elvira Valeria De Marco, Alexandra Dürr, Michael J. Eblan, Stanley Fahn, Matthew Farrer, Hon-Chung Fung, Ziv Gan-Or, Thomas Gasser, Ruth Gershoni-Baruch, Nir Giladi, Alida Griffith, Tanya Gurevich, Cristina Januario, Peter Kropp, Anthony E. Lang, Guey-Jen Lee-Chen, Suzanne Lesage, Karen Marder, Ignacio F. Mata, Anat Mirelman, Jun Mitsui, Ikuko Mizuta, Giuseppe Nicoletti, Catarina Oliveira, Ruth Ottman, Avi Orr-Urtreger, Lygia V. Pereira, Aldo Quattrone, Ekaterina Rogaeva, Arndt Rolfs, Hanna Rosenbaum, Roberto Rozenberg, Ali Samii, Ted Samaddar, Claudia Schulte, Manu Sharma, Andrew Singleton, Mariana Spitz, Eng-King Tan, Nahid Tayebi, Tatsushi Toda, André Troiano, Shoji Tsuji, Matthias Wittstock, Tyra G. Wolfsberg, Yih-Ru Wu, Cyrus P. Zabetian, Yi Zhao, Shira G. Ziegler
N Engl J Med. Author manuscript; available in PMC 2010 Apr 19.
Published in final edited form as: N Engl J Med. 2009 Oct 22; 361(17): 1651–1661. doi: 10.1056/NEJMoa0901281
PMCID:
PMC2856322
AbstractArticlePDF–1018K
7.
Glucocerebrosidase Gene Mutations: A Risk Factor for Lewy Body Disorders
Ignacio F. Mata, Ali Samii, Seth H. Schneer, John W. Roberts, Alida Griffith, Berta C. Leis, Gerard D. Schellenberg, Ellen Sidransky, Thomas D. Bird, James B. Leverenz, Debby Tsuang, Cyrus P. Zabetian
Arch Neurol. Author manuscript; available in PMC 2010 Feb 22.
Published in final edited form as: Arch Neurol. 2008 Mar; 65(3): 379–382. doi: 10.1001/archneurol.2007.68
PMCID:
PMC2826203
AbstractArticlePDF–56K
8.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
Juliane Neumann, Jose Bras, Emma Deas, Sean S. O'Sullivan, Laura Parkkinen, Robin H. Lachmann, Abi Li, Janice Holton, Rita Guerreiro, Reema Paudel, Badmavady Segarane, Andrew Singleton, Andrew Lees, John Hardy, Henry Houlden, Tamas Revesz, Nicholas W. Wood
Brain. 2009 Jul; 132(7): 1783–1794. Published online 2009 Mar 13. doi: 10.1093/brain/awp044
PMCID:
PMC2702833
AbstractArticlePDF–189K
9.
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
W C. Nichols, N Pankratz, D K. Marek, M W. Pauciulo, V E. Elsaesser, C A. Halter, A Rudolph, J Wojcieszek, R F. Pfeiffer, T Foroud, For the Parkinson Study Group–PROGENI Investigators
Neurology. 2009 Jan 27; 72(4): 310–316. doi: 10.1212/01.wnl.0000327823.81237.d1
PMCID:
PMC2677501
AbstractArticlePDF–338K
10.
The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease
Usha Gutti, Hon-Chung Fung, Kathleen S. Hruska, Mary E. LaMarca, Chiung-Mei Chen, Yih-Ru Wu, Ellen Sidransky
Arch Neurol. Author manuscript; available in PMC 2008 Dec 1.
Published in final edited form as: Arch Neurol. 2008 Jun; 65(6): 850–851. doi: 10.1001/archneur.65.6.850
PMCID:
PMC2590936
ArticlePDF–18K
11.
Glucocerebrosidase mutations in Gaucher disease.
E. Beutler, A. Demina, T. Gelbart
Mol Med. 1994 Nov; 1(1): 82–92.
PMCID:
PMC2229932
SummaryPage BrowsePDF–1.1M
12.
Murine models of acute neuronopathic Gaucher disease
Ida Berglin Enquist, Christophe Lo Bianco, Andreas Ooka, Eva Nilsson, Jan-Eric Månsson, Mats Ehinger, Johan Richter, Roscoe O. Brady, Deniz Kirik, Stefan Karlsson
Proc Natl Acad Sci U S A. 2007 Oct 30; 104(44): 17483–17488. Published online 2007 Oct 22. doi: 10.1073/pnas.0708086104
PMCID:
PMC2077282
AbstractArticlePDF–1.2M
13.
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.
N. Tayebi, S. Cushner, E. Sidransky
Am J Hum Genet. 1996 Sep; 59(3): 740–741.
PMCID:
PMC1914901
SummaryPage BrowsePDF–429K
14.
Parkinsonism among Gaucher disease carriers
O Goker-Alpan, R Schiffmann, M LaMarca, R Nussbaum, A McInerney-Leo, E Sidransky
J Med Genet. 2004 Dec; 41(12): 937–940. doi: 10.1136/jmg.2004.024455
PMCID:
PMC1735652
SummaryPDF–60K
15.
Type 2 Gaucher disease: the collodion baby phenotype revisited
D Stone, W Carey, J Christodoulou, D Sillence, P Nelson, M Callahan, N Tayebi, E Sidransky
Arch Dis Child Fetal Neonatal Ed. 2000 Mar; 82(2): F163–F166. doi: 10.1136/fn.82.2.F163
PMCID:
PMC1721053
SummaryPDF–112K
16.
Characterization of mutations in Gaucher patients by cDNA cloning.
M Wigderson, N Firon, Z Horowitz, S Wilder, Y Frishberg, O Reiner, M Horowitz
Am J Hum Genet. 1989 Mar; 44(3): 365–377.
PMCID:
PMC1715434
SummaryPage BrowsePDF–2.7M
17.
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
H Kawame, Y Eto
Am J Hum Genet. 1991 Dec; 49(6): 1378–1380.
Correction in:
Am J Hum Genet. 1992 Apr; 50(4): 885.
PMCID:
PMC1686467
SummaryPage BrowsePDF–601K
18.
Assignment of the gene for acid beta-glucosidase to human chromosome 1.
B Shafit-Zagardo, E A Devine, M Smith, F Arredondo-Vega, R J Desnick
Am J Hum Genet. 1981 Jul; 33(4): 564–575.
PMCID:
PMC1685084
SummaryPage BrowsePDF–1.3M
19.
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.
G A Grabowski, T Dinur, K M Osiecki, J R Kruse, G Legler, S Gatt
Am J Hum Genet. 1985 May; 37(3): 499–510.
PMCID:
PMC1684582
SummaryPage BrowsePDF–1.2M
20.
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.
P N Graves, G A Grabowski, M D Ludman, P Palese, F I Smith
Am J Hum Genet. 1986 Dec; 39(6): 763–774.
PMCID:
PMC1684132
SummaryPage BrowsePDF–1.5M

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