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Select item 109988211.

Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases

Tim E. Moors, Martino L. Morella, Cesc Bertran-Cobo, Hanneke Geut, Vinod Udayar, Evelien Timmermans-Huisman, Angela M. T. Ingrassia, John J. P. Brevé, John G. J. M. Bol, Vincenzo Bonifati, Ravi Jagasia, Wilma D. J. van de Berg

Acta Neuropathol. 2024; 147(1): 67. Published online 2024 Apr 6. doi: 10.1007/s00401-024-02707-z

PMCID:: PMC10998821

Abstract Article PDF–5.7M

Select item 109935752.

GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease

Chung-Hsing Wang, Yu‐Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh‐Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsai

Orphanet J Rare Dis. 2024; 19: 144. Published online 2024 Apr 4. doi: 10.1186/s13023-024-03132-x

PMCID:: PMC10993575

Abstract Article PDF–7.1M

Select item 109773963.

The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson’s Disease Patients: A Case-Control Instrumental Evaluation

Giulia Giannini, Raffaella Minardi, Giorgio Barletta, Ilaria Cani, Annagrazia Cecere, Luca Baldelli, Alessia Fiorentino, Pietro Guaraldi, Luisa Sambati, Sabina Capellari, Pietro Cortelli, Valerio Carelli, Giovanna Calandra-Buonaura

J Parkinsons Dis. 2024; 14(2): 335–346. Prepublished online 2024 Feb 1. Published online 2024 Mar 5. doi: 10.3233/JPD-230334

PMCID:: PMC10977396

Abstract Article PDF–144K

Select item 109702594.

Peripheral Upregulation of Parkinson’s Disease-Associated Genes Encoding α-Synuclein, β-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression

Razvan-Marius Brazdis, Claudia von Zimmermann, Bernd Lenz, Johannes Kornhuber, Christiane Mühle

Int J Mol Sci. 2024 Mar; 25(6): 3219. Published online 2024 Mar 12. doi: 10.3390/ijms25063219

PMCID:: PMC10970259

Abstract Article PDF–1.5M

Select item 108480985.

Comparing the effects of GBA variants and onset age on clinical features and progression in Parkinson's disease

Jingru Ren, Xiaoyan Zhan, Hao Zhou, Zhiying Guo, Yi Xing, Hangxing Yin, Chen Xue, Jun Wu, Weiguo Liu

CNS Neurosci Ther. 2024 Feb; 30(2): e14387. Published online 2023 Aug 10. doi: 10.1111/cns.14387

PMCID:: PMC10848098

Abstract Article PDF–2.3M

Select item 107791946.

IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson’s Disease Caused by the GBA1 N370S Mutation

Elena S. Yarkova, Elena V. Grigor’eva, Sergey P. Medvedev, Sophia V. Pavlova, Suren M. Zakian, Anastasia A. Malakhova

Int J Mol Sci. 2024 Jan; 25(1): 327. Published online 2023 Dec 26. doi: 10.3390/ijms25010327

PMCID:: PMC10779194

Abstract Article PDF–5.6M

Select item 106866927.

CRISPR Correction of the GBA Mutation in Human-Induced Pluripotent Stem Cells Restores Normal Function to Gaucher Macrophages and Increases Their Susceptibility to Mycobacterium tuberculosis

Sivaprakash Ramalingam, Amit Kumar, Stefanie Krug, Harikrishnan Mohan, Desirazu N Rao, William R Bishai, Srinivasan Chandrasegaran

J Infect Dis. 2023 Sep 15; 228(6): 777–782. Published online 2023 May 9. doi: 10.1093/infdis/jiad141

PMCID:: PMC10686692

Abstract Article PDF–592K

Select item 104027518.

Imaging and Genetics in Parkinson’s Disease: Assessment of the GBA1 Mutation

Sweta Ghatti, Esther Yoon, Grisel Lopez, Debra Ehrlich, Silvina G. Horovitz

J Neurol. Author manuscript; available in PMC 2023 Aug 4.

Published in final edited form as: J Neurol. 2022 Oct; 269(10): 5347–5355. Published online 2022 May 23. doi: 10.1007/s00415-022-11181-0

PMCID:: PMC10402751

Article PDF–648K

Select item 102474099.

Mechanisms of Glucocerebrosidase Dysfunction in Parkinson’s Disease

Diptaman Chatterjee, Dimitri Krainc

J Mol Biol. Author manuscript; available in PMC 2024 Jun 15.

Published in final edited form as: J Mol Biol. 2023 Jun 15; 435(12): 168023. Published online 2023 Feb 23. doi: 10.1016/j.jmb.2023.168023

PMCID:: PMC10247409

Abstract Article PDF–519K

Select item 1023742210.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 994183811.

The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines

Laura J Smith, Magdalena M Bolsinger, Kai-Yin Chau, Matthew E Gegg, Anthony H V Schapira

Hum Mol Genet. 2023 Mar 1; 32(5): 773–789. Published online 2022 Sep 20. doi: 10.1093/hmg/ddac233

PMCID:: PMC9941838

Abstract Article PDF–2.2M

Select item 991715212.

DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations

Adam R. Smith, David M. Richards, Katie Lunnon, Anthony H. V. Schapira, Anna Migdalska-Richards

Int J Mol Sci. 2023 Feb; 24(3): 2687. Published online 2023 Jan 31. doi: 10.3390/ijms24032687

PMCID:: PMC9917152

Abstract Article PDF–1.9M

Select item 991374913.

Sex-Specific Microglial Responses to Glucocerebrosidase Inhibition: Relevance to GBA1-Linked Parkinson’s Disease

Electra Brunialti, Alessandro Villa, Marco Toffoli, Sara Lucas Del Pozo, Nicoletta Rizzi, Clara Meda, Adriana Maggi, Anthony H. V. Schapira, Paolo Ciana

Cells. 2023 Feb; 12(3): 343. Published online 2023 Jan 17. doi: 10.3390/cells12030343

PMCID:: PMC9913749

Abstract Article PDF–2.7M

Select item 986463214.

Neuronopathic GBA1L444P Mutation Accelerates Glucosylsphingosine Levels and Formation of Hippocampal Alpha-Synuclein Inclusions

Casey L. Mahoney-Crane, Megha Viswanathan, Dreson Russell, Rachel A.C. Curtiss, Jennifer Freire, Sai Sumedha Bobba, Sean D. Coyle, Monika Kandebo, Lihang Yao, Bang-Lin Wan, Nathan G. Hatcher, Sean M. Smith, Jacob N. Marcus, Laura A. Volpicelli-Daley

J Neurosci. 2023 Jan 18; 43(3): 501–521. doi: 10.1523/JNEUROSCI.0680-22.2022

PMCID:: PMC9864632

Abstract Article PDF–4.8M

Select item 967392215.

Misfolded GBA/β-glucocerebrosidase impairs ER-quality control by chaperone-mediated autophagy in Parkinson disease

Sheng-Han Kuo, Inmaculada Tasset, Ana Maria Cuervo, David Sulzer

Autophagy. 2022; 18(12): 3050–3052. Published online 2022 May 6. doi: 10.1080/15548627.2022.2071383

PMCID:: PMC9673922

Abstract Article PDF–403K

Select item 954372116.

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations

Junghyun Jo, Lin Yang, Hoang‐Dai Tran, Weonjin Yu, Alfred Xuyang Sun, Ya Yin Chang, Byung Chul Jung, Seung‐Jae Lee, Tzuen Yih Saw, Bin Xiao, Audrey Tze Ting Khoo, Lai‐Ping Yaw, Jessica Jiaxin Xie, Hidayat Lokman, Wei‐Yi Ong, Grace Gui Yin Lim, Kah‐Leong Lim, Eng‐King Tan, Huck‐Hui Ng, Hyunsoo Shawn Je

Ann Neurol. 2021 Sep; 90(3): 490–505. Published online 2021 Aug 10. doi: 10.1002/ana.26166

PMCID:: PMC9543721

Abstract Article PDF–11M

Select item 946328317.

Glucocerebrosidase mutations and Parkinson disease

Sophia R. L. Vieira, Anthony H. V. Schapira

J Neural Transm (Vienna) 2022; 129(9): 1105–1117. Published online 2022 Aug 6. doi: 10.1007/s00702-022-02531-3

PMCID:: PMC9463283

Abstract Article PDF–1.1M

Select item 936273218.

GBA and APOE Impact Cognitive Decline in Parkinson’s Disease: A 10-Year Population-Based Study

Aleksandra A. Szwedo, Ingvild Dalen, Kenn Freddy Pedersen, Marta Camacho, David Bäckström, Lars Forsgren, Charalampos Tzoulis, Sophie Winder-Rhodes, Gavin Hudson, Ganqiang Liu, Clemens R. Scherzer, Rachael A. Lawson, Alison J. Yarnall, Caroline H. Williams-Gray, Angus D. Macleod, Carl E. Counsell, Ole-Bjørn Tysnes, Guido Alves, Jodi Maple-Grødem, Parkinson’s Incidence Cohorts Collaboration

Mov Disord. Author manuscript; available in PMC 2022 Aug 9.

Published in final edited form as: Mov Disord. 2022 May; 37(5): 1016–1027. Published online 2022 Feb 2. doi: 10.1002/mds.28932

PMCID:: PMC9362732

Abstract Article PDF–748K

Select item 932535119.

Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu

Sanja Kezic, Maeve A. McAleer, Ivone Jakasa, Susan M.I. Goorden, Karen Ghauharali‐van der Vlugt, Femke S. Beers‐Stet, Judith Meijer, Jeroen Roelofsen, Monique M. Nieman, André B.P. van Kuilenburg, Alan D. Irvine

Br J Dermatol. 2022 Jun; 186(6): 988–996. Published online 2022 Apr 5. doi: 10.1111/bjd.20979

PMCID:: PMC9325351

Abstract Article PDF–3.2M

Select item 927928520.

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery

Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili

Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z

PMCID:: PMC9279285

Abstract Article PDF–2.5M

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