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Items: 1 to 20 of 93

1.
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli
Orphanet J Rare Dis. 2023; 18: 177. Published online 2023 Jul 5. doi: 10.1186/s13023-023-02780-9
Correction in:
Orphanet J Rare Dis. 2023; 18: 190.
PMCID:
PMC10320940
AbstractArticlePDF–1.5M
2.
PLA2G6‐associated late‐onset parkinsonism in a Sudanese family
Yousuf Bakhit, Christelle Tesson, Mohamed O. Ibrahim, Khalid Eltom, Isra Eltazi, Liena E.O. Elsayed, Suzanne Lesage, Osheik Seidi, Jean‐Christophe Corvol, Ullrich Wüllner, Sudanese Parkinson's Disease Study Group
Ann Clin Transl Neurol. 2023 Jun; 10(6): 983–989. Published online 2023 May 3. doi: 10.1002/acn3.51781
PMCID:
PMC10270271
AbstractArticlePDF–4.8M
3.
Molecular Basis of Unique Specificity and Regulation of Group VIA Calcium-Independent Phospholipase A2 (PNPLA9) and Its Role in Neurodegenerative Diseases
Daiki Hayashi, Edward A. Dennis
Pharmacol Ther. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Pharmacol Ther. 2023 May; 245: 108395. Published online 2023 Mar 27. doi: 10.1016/j.pharmthera.2023.108395
PMCID:
PMC10174669
AbstractArticlePDF–1.9M
4.
Characterisation of PLA2G6 as a locus for dystonia-parkinsonism
Coro Paisan-Ruiz, Kailash P Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A Schneider
Ann Neurol. Author manuscript; available in PMC 2022 Apr 19.
Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 19–23. doi: 10.1002/ana.21415
PMCID:
PMC9016626
AbstractArticlePDF–279K
5.
Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
Dorsa Rostampour, Mohammad Reza Zolfaghari, Milad Gholami
J Clin Lab Anal. 2022 Mar; 36(3): e24253. Published online 2022 Jan 29. doi: 10.1002/jcla.24253
PMCID:
PMC8906051
AbstractArticlePDF–406K
6.
Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)
Somesh Singh, Sarvesh Chandra Mishra, Amrin Israrahmed, Hira Lal
BMJ Case Rep. 2021; 14(3): e242586. Published online 2021 Mar 25. doi: 10.1136/bcr-2021-242586
PMCID:
PMC8006834
ArticlePDF–471K
7.
婴儿神经轴索营养不良的临床特点及PLA2G6基因分析
陆 瑶, 刘 春花, 王 杨
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Sep 25; 21(9): 851–855. Chinese. doi: 10.7499/j.issn.1008-8830.2019.09.002
PMCID:
PMC7390253
AbstractArticlePDF–1.7M
8.
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
AbstractArticlePDF–3.7M
9.
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
BMC Med Genet. 2018; 19: 72. Published online 2018 May 8. doi: 10.1186/s12881-018-0592-y
PMCID:
PMC5941609
AbstractArticlePDF–893K
10.
The structure of iPLA2β reveals dimeric active sites and suggests mechanisms of regulation and localization
Konstantin R. Malley, Olga Koroleva, Ian Miller, Ruslan Sanishvili, Christopher M. Jenkins, Richard W. Gross, Sergey Korolev
Nat Commun. 2018; 9: 765. Published online 2018 Feb 22. doi: 10.1038/s41467-018-03193-0
PMCID:
PMC5823874
AbstractArticlePDF–1.9M
11.
PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA
Burcak Ozes, Nazan Karagoz, Rebecca Schüle, Adriana Rebelo, María-Jesús Sobrido, Florian Harmuth, Matthis Synofzik, Samuel Ignacio Pascual Pascual, Melek Colak, Beyza Ciftci-Kavaklioglu, Batuhan Kara, Andrés Ordóñez-Ugalde, Beatriz Quintáns, Michael A. Gonzalez, Aysun Soysal, Stephan Zuchner, Esra Battaloglu
Clin Genet. Author manuscript; available in PMC 2018 Nov 1.
Published in final edited form as: Clin Genet. 2017 Nov; 92(5): 534–539. Published online 2017 Apr 19. doi: 10.1111/cge.13008
PMCID:
PMC5597457
AbstractArticlePDF–549K
12.
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
AbstractArticlePDF–773K
13.
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Saeed A. Bohlega, Bashayer R. Al-Mubarak, Eman A. Alyemni, Mohamed Abouelhoda, Dorota Monies, Abeer E. Mustafa, Dania S. Khalil, Sara Al Haibi, Hussam Abou Al-Shaar, Tariq Faquih, Mohamed El-Kalioby, Asma I. Tahir, Nada A. Al Tassan
BMC Res Notes. 2016; 9: 295. Published online 2016 Jun 7. doi: 10.1186/s13104-016-2102-7
PMCID:
PMC4897907
AbstractArticlePDF–1.3M
14.
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B. Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T. Chickabasaviah, Arun Kumar
PLoS One. 2016; 11(5): e0155605. Published online 2016 May 19. doi: 10.1371/journal.pone.0155605
PMCID:
PMC4873246
AbstractArticlePDF–2.3M
15.
High expression of α-synuclein in damaged mitochondria with PLA2G6 dysfunction
Hisae Sumi-Akamaru, Goichi Beck, Koei Shinzawa, Shinsuke Kato, Yuichi Riku, Mari Yoshida, Harutoshi Fujimura, Yoshihide Tsujimoto, Saburo Sakoda, Hideki Mochizuki
Acta Neuropathol Commun. 2016; 4: 27. Published online 2016 Mar 30. doi: 10.1186/s40478-016-0298-3
PMCID:
PMC4815115
AbstractArticlePDF–3.4M
16.
Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing
Manisha Goyal, Sunita Bijarnia-Mahay, Stephen Kingsmore, Emily Farrow, Carol Saunders, Renu Saxena, Ishwar C. Verma
Indian J Pediatr. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Indian J Pediatr. 2015 May; 82(5): 474–477. Published online 2014 Oct 29. doi: 10.1007/s12098-014-1608-z
PMCID:
PMC4390426
AbstractArticlePDF–368K
17.
Role of Ca2+-independent phospholipase A2 in cell growth and signaling
Shelley B. Hooks, Brian S. Cummings
Biochem Pharmacol. Author manuscript; available in PMC 2014 Jul 9.
Published in final edited form as: Biochem Pharmacol. 2008 Oct 30; 76(9): 1059–1067. Published online 2008 Aug 15. doi: 10.1016/j.bcp.2008.07.044
PMCID:
PMC4088984
AbstractArticlePDF–270K
18.
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
M.A. Illingworth, E. Meyer, W.K. Chong, A.Y. Manzur, L.J. Carr, R. Younis, C. Hardy, F. McDonald, A.M. Childs, B. Stewart, D. Warren, R. Kneen, M.D. King, S.J. Hayflick, M.A. Kurian
Mol Genet Metab. 2014 Jun; 112(2): 183–189. doi: 10.1016/j.ymgme.2014.03.008
PMCID:
PMC4048546
AbstractArticlePDF–724K
19.
New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations
Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
PLoS One. 2013; 8(10): e76831. Published online 2013 Oct 9. doi: 10.1371/journal.pone.0076831
Correction in:
PLoS One. 2013; 8(11): 10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.
PMCID:
PMC3792983
AbstractArticlePDF–3.3M
20.
Role of calcium-independent phospholipase A2β in human pancreatic islet β-cell apoptosis
Xiaoyong Lei, Sheng Zhang, Alan Bohrer, Suzanne E. Barbour, Sasanka Ramanadham
Am J Physiol Endocrinol Metab. 2012 Dec 1; 303(11): E1386–E1395. Published online 2012 Oct 16. doi: 10.1152/ajpendo.00234.2012
PMCID:
PMC3774083
AbstractArticle

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