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Select item 112040531.

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions

Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, Natascha Bergamin, Andrea Bordugo, Annalisa Sechi, Maurizio Scarpa, Jessica Biasizzo, Fabiana Colucci, Andrea Dardis

Int J Mol Sci. 2024 Jun; 25(12): 6615. Published online 2024 Jun 16. doi: 10.3390/ijms25126615

PMCID:: PMC11204053

Article PDF–1.5M

Select item 109649542.

Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant

Zhaoxia Zhang, Dong Liu, Zhangbin Yu, Zhihui Xiao, Keying Zhou, Bo Li

Am J Case Rep. 2024; 25: e943398-1–e943398-6. Published online 2024 Mar 21. doi: 10.12659/AJCR.943398

PMCID:: PMC10964954

Article PDF–1.4M

Select item 90282283.

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

Genes (Basel) 2022 Apr; 13(4): 662. Published online 2022 Apr 9. doi: 10.3390/genes13040662

PMCID:: PMC9028228

Article PDF–1.1M

Select item 82232514.

Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy

Shiny Nair, Noffar Bar, Mina L. Xu, Madhav Dhodapkar, Pramod K Mistry

Mol Genet Metab. Author manuscript; available in PMC 2021 Jun 24.

Published in final edited form as: Mol Genet Metab. 2020 Apr; 129(4): 286–291. Published online 2020 Feb 5. doi: 10.1016/j.ymgme.2020.01.009

PMCID:: PMC8223251

Article PDF–1.6M

Select item 81621015.

Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

Shweta Mhatre, Mamta Muranjan, Sunil Karande, Harish Balaji

BMJ Case Rep. 2021; 14(5): e240742. Published online 2021 May 27. doi: 10.1136/bcr-2020-240742

PMCID:: PMC8162101

Article PDF–1.9M

Select item 81081206.

Molecular regulations and therapeutic targets of Gaucher Disease

Yuehong Chen, Neetu Sud, Aubryanna Hettinghouse, Chuan-ju Liu

Cytokine Growth Factor Rev. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: Cytokine Growth Factor Rev. 2018 Jun; 41: 65–74. Published online 2018 Apr 11. doi: 10.1016/j.cytogfr.2018.04.003

PMCID:: PMC8108120

Article PDF–1.0M

Select item 72512417.

Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease

Ying Sun, Benjamin Liou, Zhengtao Chu, Venette Fannin, Rachel Blackwood, Yanyan Peng, Gregory A. Grabowski, Harold W. Davis, Xiaoyang Qi

EBioMedicine. 2020 May; 55: 102735. Published online 2020 Apr 10. doi: 10.1016/j.ebiom.2020.102735

PMCID:: PMC7251241

Article PDF–4.1M

Select item 69587758.

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

Article PDF–780K

Select item 64475809.

Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype

Benjamin Liou, Wujuan Zhang, Venette Fannin, Brian Quinn, Huimin Ran, Kui Xu, Kenneth D. R. Setchell, David Witte, Gregory A. Grabowski, Ying Sun

Sci Rep. 2019; 9: 5571. Published online 2019 Apr 3. doi: 10.1038/s41598-019-41914-7

PMCID:: PMC6447580

Article PDF–7.4M

Select item 383381110.

Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition

Thai Leong Yap, James M. Gruschus, Arash Velayati, Ellen Sidransky, Jennifer C. Lee

Biochemistry. Author manuscript; available in PMC 2014 Oct 15.

Published in final edited form as: Biochemistry. 2013 Oct 15; 52(41): 10.1021/bi401191v. Published online 2013 Oct 1. doi: 10.1021/bi401191v

PMCID:: PMC3833811

Article PDF–1.3M

Select item 359292311.

Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease

Ying Sun, Wujuan Zhang, You-Hai Xu, Brian Quinn, Nupur Dasgupta, Benjamin Liou, Kenneth D. R. Setchell, Gregory A. Grabowski

PLoS One. 2013; 8(3): e57560. Published online 2013 Mar 8. doi: 10.1371/journal.pone.0057560

PMCID:: PMC3592923

Article PDF–3.1M

Select item 355288912.

Cathepsin-mediated regulation of autophagy in saposin C deficiency

Massimo Tatti, Marialetizia Motta, Sabrina Di Bartolomeo, Valentina Cianfanelli, Rosa Salvioli

Autophagy. 2013 Feb 1; 9(2): 241–243. doi: 10.4161/auto.22557

PMCID:: PMC3552889

Article PDF–739K

Select item 353473913.

The role of saposin C in Gaucher disease

Rafael J. Tamargo, Arash Velayati, Ehud Goldin, Ellen Sidransky

Mol Genet Metab. Author manuscript; available in PMC 2013 Jan 2.

Published in final edited form as: Mol Genet Metab. 2012 Jul; 106(3): 257–263. Published online 2012 May 5. doi: 10.1016/j.ymgme.2012.04.024

PMCID:: PMC3534739

Article PDF–774K

Select item 326016914.

High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase

Ehud Goldin, Wei Zheng, Omid Motabar, Noel Southall, Jae Hyuk Choi, Juan Marugan, Christopher P. Austin, Ellen Sidransky

PLoS One. 2012; 7(1): e29861. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0029861

PMCID:: PMC3260169

Article PDF–1.4M

Select item 285632215.

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

Article PDF–1018K

Select item 283083216.

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

Ying Sun, Benjamin Liou, Huimin Ran, Matthew R. Skelton, Michael T. Williams, Charles V. Vorhees, Kazuyuki Kitatani, Yusuf A. Hannun, David P. Witte, You-Hai Xu, Gregory A. Grabowski

Hum Mol Genet. 2010 Mar 15; 19(6): 1088–1097. Published online 2010 Jan 4. doi: 10.1093/hmg/ddp580

PMCID:: PMC2830832

Article PDF–562K

Select item 280737217.

Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse

Ying Sun, Huimin Ran, Matt Zamzow, Kazuyuki Kitatani, Matthew R. Skelton, Michael T. Williams, Charles V. Vorhees, David P. Witte, Yusuf A. Hannun, Gregory A. Grabowski

Hum Mol Genet. 2010 Feb 15; 19(4): 634–647. Published online 2009 Dec 16. doi: 10.1093/hmg/ddp531

PMCID:: PMC2807372

Article PDF–827K

Select item 262940718.

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

Ozlem Goker-Alpan, Grisel Lopez, Joseph Vithayathil, Joie Davis, Mark Hallett, Ellen Sidransky

Arch Neurol. Author manuscript; available in PMC 2009 Jan 21.

Published in final edited form as: Arch Neurol. 2008 Oct; 65(10): 1353–1357. doi: 10.1001/archneur.65.10.1353

PMCID:: PMC2629407

Article PDF–53K

Select item 154581419.

Non-neuropathic Gaucher disease presenting in infancy.

P Hodson, J Goldblatt, P Beighton

Arch Dis Child. 1979 Sep; 54(9): 707–709. doi: 10.1136/adc.54.9.707

PMCID:: PMC1545814

Article PDF–503K

Select item 31067420.

Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease

Suzanne L. Winfield, Nahid Tayebi, Brian M. Martin, Edward I. Ginns, Ellen Sidransky

Genome Res. 1997 Oct; 7(10): 1020–1026. doi: 10.1101/gr.7.10.1020

PMCID:: PMC310674

Article PDF–593K

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