| The role of the PLA2G6 gene in neurodegenerative diseases. | The role of the PLA2G6 gene in neurodegenerative diseases.
Deng X, Yuan L, Jankovic J, Deng H. | 07/12/2023 |
| Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. | Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR., Free PMC Article | 07/7/2023 |
| PLA2G6-associated late-onset parkinsonism in a Sudanese family. | PLA2G6-associated late-onset parkinsonism in a Sudanese family.
Bakhit Y, Tesson C, Ibrahim MO, Eltom K, Eltazi I, Elsayed LEO, Lesage S, Seidi O, Corvol JC, Wüllner U, Sudanese Parkinson's Disease Study Group., Free PMC Article | 06/21/2023 |
| Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naive first-episode psychosis patients and nonadherent chronic psychosis patients. | Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naïve first-episode psychosis patients and nonadherent chronic psychosis patients.
Nadalin S, Zatković L, Peitl V, Karlović D, Vidrih B, Puljić A, Pavlić SD, Buretić-Tomljanović A. | 06/21/2023 |
| Molecular basis of unique specificity and regulation of group VIA calcium-independent phospholipase A2 (PNPLA9) and its role in neurodegenerative diseases. | Molecular basis of unique specificity and regulation of group VIA calcium-independent phospholipase A(2) (PNPLA9) and its role in neurodegenerative diseases.
Hayashi D, Dennis EA., Free PMC Article | 05/8/2023 |
| Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. | Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
McMillan HJ, Marshall AE, Venkateswaran S, Hartley T, Warman-Chardon J, Ramani AK, Marshall CR, Michaud J, Boycott KM, Dyment DA, Kernohan KD. | 04/30/2022 |
| Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. | Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S, Undiagnosed Disease Network, Bademci G, Tekin M., Free PMC Article | 04/23/2022 |
| Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy. | Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.
Rostampour D, Zolfaghari MR, Gholami M., Free PMC Article | 04/16/2022 |
| Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism. | Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP. | 04/2/2022 |
| Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease. | Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease.
Liu H, Wang Y, Pan H, Xu K, Jiang L, Zhao Y, Xu Q, Sun Q, Tan J, Yan X, Li J, Tang B, Guo J. | 12/4/2021 |
| iPLA2beta Contributes to ER Stress-Induced Apoptosis during Myocardial Ischemia/Reperfusion Injury. | iPLA(2)β Contributes to ER Stress-Induced Apoptosis during Myocardial Ischemia/Reperfusion Injury.
Jin T, Lin J, Gong Y, Bi X, Hu S, Lv Q, Chen J, Li X, Chen J, Zhang W, Wang M, Fu G., Free PMC Article | 11/6/2021 |
| PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan. | PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.
Daida K, Nishioka K, Li Y, Yoshino H, Shimada T, Dougu N, Nakatsuji Y, Ohara S, Hashimoto T, Okiyama R, Yokochi F, Suzuki C, Tomiyama M, Kimura K, Ueda N, Tanaka F, Yamada H, Fujioka S, Tsuboi Y, Uozumi T, Takei T, Matsuzaki S, Shibasaki M, Kashihara K, Kurisaki R, Yamashita T, Fujita N, Hirata Y, Ii Y, Wada C, Eura N, Sugie K, Higuchi Y, Kojima F, Imai H, Noda K, Shimo Y, Funayama M, Hattori N. | 09/4/2021 |
| Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD). | Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD).
Singh S, Mishra SC, Israrahmed A, Lal H., Free PMC Article | 08/28/2021 |
| iPLA2beta-mediated lipid detoxification controls p53-driven ferroptosis independent of GPX4. | iPLA2β-mediated lipid detoxification controls p53-driven ferroptosis independent of GPX4.
Chen D, Chu B, Yang X, Liu Z, Jin Y, Kon N, Rabadan R, Jiang X, Stockwell BR, Gu W., Free PMC Article | 07/17/2021 |
| Metabolic Effects of Selective Deletion of Group VIA Phospholipase A2 from Macrophages or Pancreatic Islet Beta-Cells. | Metabolic Effects of Selective Deletion of Group VIA Phospholipase A(2) from Macrophages or Pancreatic Islet Beta-Cells.
Turk J, Song H, Wohltmann M, Frankfater C, Lei X, Ramanadham S., Free PMC Article | 06/26/2021 |
| PLA2G6 guards placental trophoblasts against ferroptotic injury. | PLA2G6 guards placental trophoblasts against ferroptotic injury.
Beharier O, Tyurin VA, Goff JP, Guerrero-Santoro J, Kajiwara K, Chu T, Tyurina YY, St Croix CM, Wallace CT, Parry S, Parks WT, Kagan VE, Sadovsky Y., Free PMC Article | 01/9/2021 |
| Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. | Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.
Gafner M, Michelson M, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D. | 12/5/2020 |
| Impaired iPLA2beta activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA2beta activity as the cause of iron deposition in PLAN. | Impaired iPLA(2)β activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA(2)β activity as the cause of iron deposition in PLAN.
Guo YP, Tang BS, Liu HL, Huang JJ, Xu Q, Sun QY, Yan XX, Guo JF. | 09/12/2020 |
| Genetic testing of the PLA2G6 confirmed presence of compound heterozygous novel mutations in Malaysian siblings with infantile neuroaxonal dystrophy 1 | Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.
Li L, Fong CY, Tay CG, Tae SK, Suzuki H, Kosaki K, Thong MK. | 08/1/2020 |
| A novel compound heterozygous mutation of the PLA2G6 gene, c.1648delC and c.991G>T, is associated with adult onset ataxia. | Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration.
Ji Y, Li Y, Shi C, Gao Y, Yang J, Liang D, Yang Z, Xu Y. | 07/4/2020 |
| Study demonstrated significant, though weak, effects of the PLA2G6 polymorphism on the risk of nicotine dependence, as well as a significant, though weak, influence of the PLA2G6-smoking interaction on age of schizophrenia onset, with both effects manifested in a gender-specific fashion. | Association between PLA2G6 gene polymorphism for calcium-independent phospholipase A2 and nicotine dependence among males with schizophrenia.
Nadalin S, Rebić J, Šendula Jengić V, Peitl V, Karlović D, Buretić-Tomljanović A. | 04/25/2020 |
| The compound variants of c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies infantile neuroaxonal dystrophy in the child | [Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].
Tan J, Yan T, Chang R, Yuan D, Pan L, Cai R. | 01/18/2020 |
| Proportion of calcium-independent (i)PLA2beta-containing mucosal mast cells (MCs) and the expression intensity of sPLA2-IIA was increased in Crohn's disease (CD). In vitro study showed that (i)PLA2beta is involved in the secretion of secretory phospholipases (sPLA2) from human MC line HMC-1. These results suggest that iPLA2beta-mediated release of sPLA2 from intestinal MCs may contribute to CD pathophysiology. | Possible Involvement of Intracellular Calcium-Independent Phospholipase A(2) in the Release of Secretory Phospholipases from Mast Cells-Increased Expression in Ileal Mast Cells of Crohn's Disease.
Christerson U, Keita ÅV, Winberg ME, Söderholm JD, Gustafson-Svärd C., Free PMC Article | 01/4/2020 |
| Two missense variants, p.R53C and p.T319M in PLA2G6 gene may contribute to Parkinson's disease susceptibility in Chinese population. | Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.
Shen T, Pu J, Lai HY, Xu L, Si X, Yan Y, Jiang Y, Zhang B., Free PMC Article | 11/2/2019 |
| This study shows a hereto unknown role of PLA2G6/PARK14 in sphingolipid homeostasis and endolysosomal function. The suppression of PLA2G6 expression causes a reduction in Vps26 and Vps35 and leads to an elevation of ceramides and other sphingolipid intermediates in neuroblastoma cell line cells. | Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain.
Lin G, Lee PT, Chen K, Mao D, Tan KL, Zuo Z, Lin WW, Wang L, Bellen HJ. | 10/26/2019 |