PMC Links for Nucleotide (Select 1519473489) - PMC

Select item 65616191.

Downregulated LRRK2 gene expression inhibits proliferation and migration while promoting the apoptosis of thyroid cancer cells by inhibiting activation of the JNK signaling pathway

Zheng-Cai Jiang, Xiao-Jun Chen, Qi Zhou, Xiao-Hua Gong, Xiong Chen, Wen-Jun Wu

Int J Oncol. 2019 Jul; 55(1): 21–34. Published online 2019 May 29. doi: 10.3892/ijo.2019.4816

PMCID:: PMC6561619

Abstract Article PDF–2.1M

Select item 64985852.

Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes

Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe, Ilo Jou

Acta Neuropathol Commun. 2019; 7: 68. Published online 2019 May 2. doi: 10.1186/s40478-019-0716-4

PMCID:: PMC6498585

Abstract Article PDF–6.9M

Select item 11818983.

The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval

Alexander Zimprich, Bertram Müller-Myhsok, Matthew Farrer, Petra Leitner, Manu Sharma, Mary Hulihan, Paul Lockhart, Audrey Strongosky, Jennifer Kachergus, Donald B. Calne, Jon Stoessl, Ryan J. Uitti, Ronald F. Pfeiffer, Claudia Trenkwalder, Nikolaus Homann, Erwin Ott, Karoline Wenzel, Friedrich Asmus, John Hardy, Zbigniew Wszolek, Thomas Gasser

Am J Hum Genet. 2004 Jan; 74(1): 11–19. Published online 2003 Dec 19. doi: 10.1086/380647

Correction in:: Am J Hum Genet. 2004 Sep; 75(3): 534.

PMCID:: PMC1181898

Abstract Article PDF–222K

Select item 1294324.

Identifying novel transcripts and novel genes in the human genome by using novel SAGE tags

Jianjun Chen, Miao Sun, Sanggyu Lee, Guolin Zhou, Janet D. Rowley, San Ming Wang

Proc Natl Acad Sci U S A. 2002 Sep 17; 99(19): 12257–12262. Published online 2002 Sep 4. doi: 10.1073/pnas.192436499

PMCID:: PMC129432

Abstract Article PDF–151K

Select item 68371635.

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials

Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar

Front Genet. 2019; 10: 1061. Published online 2019 Oct 31. doi: 10.3389/fgene.2019.01061

PMCID:: PMC6837163

Abstract Article PDF–1.3M

Select item 68161976.

Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism – a case report

Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási, Maria Judit Molnar

BMC Neurol. 2019; 19: 260. Published online 2019 Oct 28. doi: 10.1186/s12883-019-1496-y

PMCID:: PMC6816197

Abstract Article PDF–2.4M

Select item 67210497.

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

Miriam Ciani, Cristian Bonvicini, Catia Scassellati, Matteo Carrara, Carlo Maj, Silvia Fostinelli, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi

Int J Mol Sci. 2019 Aug; 20(16): 3903. Published online 2019 Aug 10. doi: 10.3390/ijms20163903

PMCID:: PMC6721049

Abstract Article PDF–258K

Select item 66607718.

The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain

Sven H. Schmidt, Matthias J. Knape, Daniela Boassa, Natascha Mumdey, Alexandr P. Kornev, Mark H. Ellisman, Susan S. Taylor, Friedrich W. Herberg

Proc Natl Acad Sci U S A. 2019 Jul 23; 116(30): 14979–14988. Published online 2019 Jul 10. doi: 10.1073/pnas.1900289116

PMCID:: PMC6660771

Abstract Article PDF–1.6M

Select item 63694489.

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Caroline F. Wright, Ben West, Marcus Tuke, Samuel E. Jones, Kashyap Patel, Thomas W. Laver, Robin N. Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew T. Hattersley, Michael N. Weedon

Am J Hum Genet. 2019 Feb 7; 104(2): 275–286. Published online 2019 Jan 18. doi: 10.1016/j.ajhg.2018.12.015

PMCID:: PMC6369448

Abstract Article PDF–574K

Select item 624810810.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

Cornelis Blauwendraat, Xylena Reed, Demis A. Kia, Ziv Gan-Or, Suzanne Lesage, Lasse Pihlstrøm, Rita Guerreiro, J. Raphael Gibbs, Marya Sabir, Sarah Ahmed, Jinhui Ding, Roy N. Alcalay, Sharon Hassin-Baer, Alan M. Pittman, Janet Brooks, Connor Edsall, Dena G. Hernandez, Sun Ju Chung, Stefano Goldwurm, Mathias Toft, Claudia Schulte, Jose Bras, Nicholas W. Wood, Alexis Brice, Huw R. Morris, Sonja W. Scholz, Mike A. Nalls, Andrew B. Singleton, Mark R. Cookson

JAMA Neurol. 2018 Nov; 75(11): 1416–1422. Published online 2018 Jul 23. doi: 10.1001/jamaneurol.2018.1885

PMCID:: PMC6248108

Abstract Article

Select item 617445811.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 545950012.

Role of LRRK2 in the regulation of dopamine receptor trafficking

Mauro Rassu, Maria Grazia Del Giudice, Simona Sanna, Jean Marc Taymans, Michele Morari, Alberto Brugnoli, Martina Frassineti, Alessandra Masala, Sonia Esposito, Manuela Galioto, Cristiana Valle, Maria Teresa Carri, Alice Biosa, Elisa Greggio, Claudia Crosio, Ciro Iaccarino

PLoS One. 2017; 12(6): e0179082. Published online 2017 Jun 5. doi: 10.1371/journal.pone.0179082

PMCID:: PMC5459500

Abstract Article PDF–11M

Select item 501695313.

Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger

BMC Med Genet. 2016; 17(1): 65. Published online 2016 Sep 9. doi: 10.1186/s12881-016-0327-x

PMCID:: PMC5016953

Abstract Article PDF–380K

Select item 457365214.

Splicing: is there an alternative contribution to Parkinson’s disease?

Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro

Neurogenetics. 2015; 16: 245–263. Published online 2015 May 16. doi: 10.1007/s10048-015-0449-x

PMCID:: PMC4573652

Abstract Article PDF–923K

Select item 419908615.

Blood-Based Gene-Expression Biomarkers of Post-Traumatic Stress Disorder among Deployed Marines: A Pilot Study

Daniel S. Tylee, Sharon D. Chandler, Caroline M. Nievergelt, Xiaohua Liu, Joel Pazol, Christopher H. Woelk, James B. Lohr, William S. Kremen, Marine Resiliency Study Investigators, Dewleen G. Baker, Stephen J. Glatt, Ming T. Tsuang

Psychoneuroendocrinology. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Psychoneuroendocrinology. 2015 Jan; 51: 472–494. Published online 2014 Sep 30. doi: 10.1016/j.psyneuen.2014.09.024

PMCID:: PMC4199086

Abstract Article PDF–858K

Select item 315393416.

Dysregulated LRRK2 Signaling in Response to Endoplasmic Reticulum Stress Leads to Dopaminergic Neuron Degeneration in C. elegans

Yiyuan Yuan, Pengxiu Cao, Mark A. Smith, Kristopher Kramp, Ying Huang, Naoki Hisamoto, Kunihiro Matsumoto, Maria Hatzoglou, Hui Jin, Zhaoyang Feng

PLoS One. 2011; 6(8): e22354. Published online 2011 Aug 3. doi: 10.1371/journal.pone.0022354

PMCID:: PMC3153934

Abstract Article PDF–1.9M

Select item 300509817.

INSIGHT INTO THE MODE OF ACTION OF THE LRRK2 Y1699C PATHOGENIC MUTANT

Veronique Daniëls, Renée Vancraenenbroeck, Bernard MH Law, Elisa Greggio, Evy Lobbestael, Fangye Gao, Marc De Maeyer, Mark R Cookson, Kirsten Harvey, Veerle Baekelandt, Jean-Marc Taymans

J Neurochem. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: J Neurochem. 2011 Jan; 116(2): 304–315. doi: 10.1111/j.1471-4159.2010.07105.x

PMCID:: PMC3005098

Abstract Article PDF–807K

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