Literature DB >> 21520282

Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).

Matthew A Bower, Khalaf Bushara, Melissa A Dempsey, Soma Das, Paul J Tuite.   

Abstract

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Year:  2011        PMID： 21520282     DOI： 10.1002/mds.23617

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  14 in total

Review 1.  Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Authors:  Manju A Kurian; Susan J Hayflick
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

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

Authors:  Paula Pérez-Torre; Alfonso Escobar Villalba; Pedro Martínez Ulloa; Michal Kawiorski; Adriano Jiménez-Escrig; Eulalia Bazán; Rafael Gonzalo-Gobernado; Antonio S Herranz
Journal:  Mov Disord Clin Pract       Date:  2016-11-04

Review 3.  Calcium-independent phospholipases A2 and their roles in biological processes and diseases.

Authors:  Sasanka Ramanadham; Tomader Ali; Jason W Ashley; Robert N Bone; William D Hancock; Xiaoyong Lei
Journal:  J Lipid Res       Date:  2015-05-28       Impact factor: 5.922

4.  NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Authors:  Ayaz Khan; Shixiong Tian; Muhammad Tariq; Sheraz Khan; Muhammad Safeer; Naimat Ullah; Nazia Akbar; Iram Javed; Mahnoor Asif; Ilyas Ahmad; Shahid Ullah; Humayoon Shafique Satti; Raees Khan; Muhammad Naeem; Mahwish Ali; John Rendu; Julien Fauré; Klaus Dieterich; Xenia Latypova; Shahid Mahmood Baig; Naveed Altaf Malik; Feng Zhang; Tahir Naeem Khan; Chunyu Liu
Journal:  Mol Genet Genomics       Date:  2022-08-24       Impact factor: 2.980

5.  PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

Authors:  Siamak Karkheiran; Gholam Ali Shahidi; Ruth H Walker; Coro Paisán-Ruiz
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2015-07-10

6.  Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Authors:  Toshiyuki Yamamoto; Keiko Shimojima; Takashi Shibata; Mari Akiyama; Makio Oka; Tomoyuki Akiyama; Harumi Yoshinaga; Katsuhiro Kobayashi
Journal:  Hum Genome Var       Date:  2015-11-19

7.  New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Authors:  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
Journal:  PLoS One       Date:  2013-10-09       Impact factor: 3.240

8.  Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Authors:  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
Journal:  PLoS One       Date:  2016-05-19       Impact factor: 3.240

9.  PARK14 PLA2G6 mutants are defective in preventing rotenone-induced mitochondrial dysfunction, ROS generation and activation of mitochondrial apoptotic pathway.

Authors:  Ching-Chi Chiu; Tu-Hsueh Yeh; Chin-Song Lu; Yin-Cheng Huang; Yi-Chuan Cheng; Ying-Zu Huang; Yi-Hsin Weng; Yu-Chuan Liu; Szu-Chia Lai; Ying-Ling Chen; Yu-Jie Chen; Chao-Lang Chen; Hsin-Yi Chen; Yan-Wei Lin; Hung-Li Wang
Journal:  Oncotarget       Date:  2017-09-15

10.  Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.

Authors:  Rosangela Ferese; Simona Scala; Francesca Biagioni; Emiliano Giardina; Stefania Zampatti; Nicola Modugno; Claudio Colonnese; Marianna Storto; Francesco Fornai; Giuseppe Novelli; Stefano Ruggieri; Stefano Gambardella
Journal:  Front Neurol       Date:  2018-07-10       Impact factor: 4.003
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