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Select item 66782821.

Possible Involvement of Intracellular Calcium-Independent Phospholipase A₂ in the Release of Secretory Phospholipases from Mast Cells—Increased Expression in Ileal Mast Cells of Crohn’s Disease

Ulrika Christerson, Åsa V. Keita, Martin E. Winberg, Johan D. Söderholm, Christina Gustafson-Svärd

Cells. 2019 Jul; 8(7): 672. Published online 2019 Jul 3. doi: 10.3390/cells8070672

PMCID:: PMC6678282

Abstract Article PDF–3.7M

Select item 37159972.

Human Pancreatic Islets Express mRNA Species Encoding Two Distinct Catalytically Active Isoforms of Group VI Phospholipase A₂ (iPLA₂) That Arise from an Exon-skipping Mechanism of Alternative Splicing of the Transcript from the iPLA₂ Gene on Chromosome 22q13.1

Zhongmin Ma, Xiying Wang, William Nowatzke, Sasanka Ramanadham, John Turk

J Biol Chem. Author manuscript; available in PMC 2013 Jul 19.

Published in final edited form as: J Biol Chem. 1999 Apr 2; 274(14): 9607–9616. doi: 10.1074/jbc.274.14.9607

PMCID:: PMC3715997

Abstract Article PDF–1.4M

Select item 21173283.

PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C Trembath, Alessandro Simonati, Carolyn Schanen, Colin A Johnson, Barbara Levinson, C Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R Maher, Susan J Hayflick

Nat Genet. Author manuscript; available in PMC 2007 Dec 5.

Published in final edited form as: Nat Genet. 2006 Jul; 38(7): 752–754. Published online 2006 Jun 18. doi: 10.1038/ng1826

Correction in:: volume 38 on page 957

PMCID:: PMC2117328

Abstract Article PDF–452K

Select item 67831714.

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis

Danxia Peng, Ying Dai, Xuan Xu

Medicine (Baltimore) 2019 Oct; 98(40): e17359. Published online 2019 Oct 4. doi: 10.1097/MD.0000000000017359

PMCID:: PMC6783171

Abstract Article PDF–1.0M

Select item 67129645.

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review

Ting Shen, Jing Hu, Yasi Jiang, Shuai Zhao, Caixiu Lin, Xinzhen Yin, Yaping Yan, Jiali Pu, Hsin-Yi Lai, Baorong Zhang

Front Neurol. 2019; 10: 915. Published online 2019 Aug 21. doi: 10.3389/fneur.2019.00915

PMCID:: PMC6712964

Abstract Article PDF–789K

Select item 67129226.

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl

Sakshi Jain, Himani Bhasin, Marta Romani, Enza maria valente, Suvasini Sharma

J Pediatr Neurosci. 2019 Apr-Jun; 14(2): 90–93. doi: 10.4103/jpn.JPN_91_18

PMCID:: PMC6712922

Abstract Article

Select item 63533387.

PLA2G6 ‐Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation

Paula Pérez‐Torre, Alfonso Escobar Villalba, Pedro Martínez Ulloa, Michal Kawiorski, Adriano Jiménez‐Escrig, Eulalia Bazán, Rafael Gonzalo‐Gobernado, Antonio S. Herranz

Mov Disord Clin Pract. 2017 Jan-Feb; 4(1): 129–131. Published online 2016 Nov 4. doi: 10.1002/mdc3.12419

PMCID:: PMC6353338

Article PDF–155K

Select item 61744588.

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 60760899.

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis

Jie Wen, Li Pan, Xuan Xu, Jiang Wang, Chen Hu

Medicine (Baltimore) 2018 Jul; 97(27): e11284. Published online 2018 Jul 6. doi: 10.1097/MD.0000000000011284

PMCID:: PMC6076089

Abstract Article PDF–579K

Select item 588525910.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr

JAMA Neurol. 2018 May; 75(5): 591–599. Published online 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121

PMCID:: PMC5885259

Abstract Article

Select item 561004011.

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

Ewen W. Sommerville, Charlotte L. Alston, Angela Pyle, Langping He, Gavin Falkous, Karen Naismith, Patrick F. Chinnery, Robert McFarland, Robert W. Taylor

Neurol Genet. 2017 Oct; 3(5): e187. Published online 2017 Sep 22. doi: 10.1212/NXG.0000000000000187

PMCID:: PMC5610040

Abstract Article PDF–306K

Select item 553530312.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Mariska Davids, Megan S Kane, Miao He, Lynne A Wolfe, Xueli Li, Mohd A Raihan, Katherine R Chao, William P Bone, Cornelius F Boerkoel, William A Gahl, Camilo Toro

J Med Genet. Author manuscript; available in PMC 2017 Jul 31.

Published in final edited form as: J Med Genet. 2016 Mar; 53(3): 180–189. Published online 2015 Dec 14. doi: 10.1136/jmedgenet-2015-103338

PMCID:: PMC5535303

Abstract Article PDF–773K

Select item 530641213.

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Xuan Xu, Ping Gong, Jie Wen

J Assist Reprod Genet. 2017 Feb; 34(2): 275–281. Published online 2016 Dec 17. doi: 10.1007/s10815-016-0849-3

PMCID:: PMC5306412

Abstract Article PDF–2.2M

Select item 507878614.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng

Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936

PMCID:: PMC5078786

Abstract Article PDF–661K

Select item 457365215.

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 388140416.

Stimulated Bronchial Epithelial Cells Release Bioactive Lysophosphatidylcholine 16:0, 18:0, and 18:1

Yan Zhuge, Yang Yuan, Richard van Breemen, Michael DeGrand, Oksana Holian, Mark Yoder, Hazel Lum

Allergy Asthma Immunol Res. 2014 Jan; 6(1): 66–74. Published online 2013 Nov 28. doi: 10.4168/aair.2014.6.1.66

PMCID:: PMC3881404

Abstract Article PDF–450K

Select item 388140317.

Bioactive Lysophosphatidylcholine 16:0 and 18:0 Are Elevated in Lungs of Asthmatic Subjects

Mark Yoder, Yan Zhuge, Yang Yuan, Oksana Holian, Sherry Kuo, Richard van Breemen, Larry L. Thomas, Hazel Lum

Allergy Asthma Immunol Res. 2014 Jan; 6(1): 61–65. Published online 2013 Dec 5. doi: 10.4168/aair.2014.6.1.61

PMCID:: PMC3881403

Abstract Article PDF–268K

Select item 377008018.

Fatty acid remodeling in cellular glycerophospholipids following the activation of human T cells

Philippe Pierre Robichaud, Katherine Boulay, Jean Éric Munganyiki, Marc E. Surette

J Lipid Res. 2013 Oct; 54(10): 2665–2677. doi: 10.1194/jlr.M037044

PMCID:: PMC3770080

Abstract Article PDF–1.1M

Select item 365769619.

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

Coro Paisán-Ruiz, Abi Li, Susanne A. Schneider, Janice L. Holton, Robert Johnson, Desmond Kidd, Jeremy Chataway, Kailash P. Bhatia, Andrew J. Lees, John Hardy, Tamas Revesz, Henry Houlden

Neurobiol Aging. 2012 Apr; 33(4): 814–823. doi: 10.1016/j.neurobiolaging.2010.05.009

PMCID:: PMC3657696

Abstract Article

Select item 267635320.

Expression of Phospholipases A₂ in Primary Human Lung Macrophages. Role of Cytosolic Phospholipase A₂–α in Arachidonic Acid Release and Platelet Activating Factor Synthesis

Giorgio Giannattasio, Ying Lai, Francescopaolo Granata, Carine M. Mounier, Laxman Nallan, Rob Oslund, Christina C. Leslie, Gianni Marone, Gérard Lambeau, Michael H. Gelb, Massimo Triggiani

Biochim Biophys Acta. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Biochim Biophys Acta. 2009 Feb; 1791(2): 92–102. Published online 2008 Dec 16. doi: 10.1016/j.bbalip.2008.12.002

PMCID:: PMC2676353

Abstract Article PDF–1.2M

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