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Literature DB >> 25660576

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.

Fei Xie¹, Zhidong Cen², Zhiyuan Ouyang¹, Sheng Wu¹, Jianfeng Xiao³, Wei Luo⁴.

Abstract

Entities: Disease Gene Mutation Species

Keywords: PLA2G6; PLA2G6-associated neurodegeneration; Pure autosomal-recessive early-onset parkinsonism

Mesh：

Substances：

Year: 2015 PMID： 25660576 DOI： 10.1016/j.parkreldis.2015.01.012

Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891

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Cited

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9 in total

1. Lack of Association Between PLA2G6 Genetic Variation and Parkinson's Disease: A Systematic Review.

Authors: Hongmei Liu; Yamin Yao; Hongbo Liu; Yanmin Peng; Juanjuan Ren; Xiaohui Wu; Ruizhi Mao; Jie Zhao; Yuncheng Zhu; Zhiang Niu; Tao Yang; Xiujia Sun; Ping Jiang; Chen Zhang; Yiru Fang
Journal: Neuropsychiatr Dis Treat Date: 2020-07-23 Impact factor: 2.570

2. PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model.

Authors: Ching-Chi Chiu; Chin-Song Lu; Yi-Hsin Weng; Ying-Ling Chen; Ying-Zu Huang; Rou-Shayn Chen; Yi-Chuan Cheng; Yin-Cheng Huang; Yu-Chuan Liu; Szu-Chia Lai; Kun-Jun Lin; Yan-Wei Lin; Yu-Jie Chen; Chao-Lang Chen; Tu-Hsueh Yeh; Hung-Li Wang
Journal: Mol Neurobiol Date: 2018-08-08 Impact factor: 5.590

3. 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

4. Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

Authors: Yalan Wan; Yanyan Jiang; Zhiying Xie; Chen Ling; Kang Du; Ran Li; Yun Yuan; Zhaoxia Wang; Wei Sun; Haiqiang Jin
Journal: Front Neurol Date: 2022-07-13 Impact factor: 4.086

5. Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

Authors: Kerri J Kinghorn; Jorge Iván Castillo-Quan
Journal: Rare Dis Date: 2016-01-25

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.

1. Lack of Association Between PLA2G6 Genetic Variation and Parkinson's Disease: A Systematic Review.

2. PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model.

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

4. Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

5. Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

6. PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Review 7. Parkinson's Disease and Metal Storage Disorders: A Systematic Review.

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

9. Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review.