PIK3CA c.1109A>G ;(p.N370S)

Variant ID: 3-178922340-A-G

NM_006218.2(PIK3CA):c.1109A>G;(p.N370S)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Fountain of youth-Targeting autophagy in aging.

Frontiers In Aging Neuroscience
Danics, Lea L; Abbas, Anna Anoir AA; Kis, Balázs B; Pircs, Karolina K
Publication Date: 2023

Variant appearance in text: PI3K: N370S
PubMed Link: 37065462
Variant Present in the following documents:
  • Main text
  • fnagi-15-1125739.pdf
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Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson's disease.

Human Molecular Genetics
Kumar, Manoj M; Srikanth, Manasa P MP; Deleidi, Michela M; Hallett, Penelope J PJ; Isacson, Ole O; Feldman, Ricardo A RA
Publication Date: 2023-02-08

Variant appearance in text: PI3K: N370S
PubMed Link: 36752535
Variant Present in the following documents:
  • Main text
  • ddad025.pdf
View BVdb publication page



Exploring the Role of Lipid-Binding Proteins and Oxidative Stress in Neurodegenerative Disorders: A Focus on the Neuroprotective Effects of Nutraceutical Supplementation and Physical Exercise.

Antioxidants (Basel, Switzerland)
Scarfò, Giorgia G; Piccarducci, Rebecca R; Daniele, Simona S; Franzoni, Ferdinando F; Martini, Claudia C
Publication Date: 2022-10-27

Variant appearance in text: PI3K: N370S
PubMed Link: 36358488
Variant Present in the following documents:
  • Main text
  • antioxidants-11-02116.pdf
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Interactions between endoplasmic reticulum stress and extracellular vesicles in multiple diseases.

Frontiers In Immunology
Ye, Jingyao J; Liu, Xuehong X
Publication Date: 2022

Variant appearance in text: PI3K: N370S
PubMed Link: 36032078
Variant Present in the following documents:
  • Main text
  • fimmu-13-955419.pdf
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Autophagy in health and disease: From molecular mechanisms to therapeutic target.

Medcomm
Lu, Guang G; Wang, Yu Y; Shi, Yin Y; Zhang, Zhe Z; Huang, Canhua C; He, Weifeng W; Wang, Chuang C; Shen, Han-Ming HM
Publication Date: 2022-09

Variant appearance in text: PI3K: N370S
PubMed Link: 35845350
Variant Present in the following documents:
  • Main text
  • MCO2-3-e150.pdf
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A Compendium of Information on the Lysosome.

Frontiers In Cell And Developmental Biology
Bouhamdani, Nadia N; Comeau, Dominique D; Turcotte, Sandra S
Publication Date: 2021

Variant appearance in text: PI3K: N370S
PubMed Link: 34977038
Variant Present in the following documents:
  • fcell-09-798262.pdf
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Ceramide Metabolism and Parkinson's Disease-Therapeutic Targets.

Biomolecules
Custodia, Antía A; Aramburu-Núñez, Marta M; Correa-Paz, Clara C; Posado-Fernández, Adrián A; Gómez-Larrauri, Ana A; Castillo, José J; Gómez-Muñoz, Antonio A; Sobrino, Tomás T; Ouro, Alberto A
Publication Date: 2021-06-25

Variant appearance in text: PI3K: N370S
PubMed Link: 34202192
Variant Present in the following documents:
  • Main text
  • biomolecules-11-00945.pdf
View BVdb publication page



Bioinformatics analysis and identification of genes and molecular pathways involved in Parkinson's disease in patients with mutations in the glucocerebrosidase gene.

Neuroreport
Xu, Dan-Dan DD; Li, Guo-Qian GQ; Wu, Zhi-Sheng ZS; Liu, Xiao-Qiang XQ; Yang, Xiao-Xia XX; Wang, Jie-Hua JH
Publication Date: 2021-08-04

Variant appearance in text: PI3K: N370S
PubMed Link: 34132705
Variant Present in the following documents:
  • Main text
  • nr-32-918.pdf
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"LRRK2: Autophagy and Lysosomal Activity".

Frontiers In Neuroscience
Madureira, Marta M; Connor-Robson, Natalie N; Wade-Martins, Richard R
Publication Date: 2020

Variant appearance in text: PI3K: N370S
PubMed Link: 32523507
Variant Present in the following documents:
  • fnins-14-00498.pdf
View BVdb publication page



Autophagy in Neurodegenerative Diseases: A Hunter for Aggregates.

International Journal Of Molecular Sciences
Park, Hyungsun H; Kang, Ju-Hee JH; Lee, Seongju S
Publication Date: 2020-05-10

Variant appearance in text: PI3K: N370S
PubMed Link: 32397599
Variant Present in the following documents:
  • Main text
  • ijms-21-03369.pdf
View BVdb publication page



The Overcrowded Crossroads: Mitochondria, Alpha-Synuclein, and the Endo-Lysosomal System Interaction in Parkinson's Disease.

International Journal Of Molecular Sciences
Lin, Kai-Jung KJ; Lin, Kai-Lieh KL; Chen, Shang-Der SD; Liou, Chia-Wei CW; Chuang, Yao-Chung YC; Lin, Hung-Yu HY; Lin, Tsu-Kung TK
Publication Date: 2019-10-25

Variant appearance in text: PI3K: N370S
PubMed Link: 31731450
Variant Present in the following documents:
  • ijms-20-05312.pdf
View BVdb publication page



Autophagy in Synucleinopathy: The Overwhelmed and Defective Machinery.

Cells
Arotcarena, Marie-Laure ML; Teil, Margaux M; Dehay, Benjamin B
Publication Date: 2019-06-09

Variant appearance in text: PI3K: N370S
PubMed Link: 31181865
Variant Present in the following documents:
  • Main text
  • cells-08-00565.pdf
View BVdb publication page



Keratinocyte differentiation promotes ER stress-dependent lysosome biogenesis.

Cell Death & Disease
Mahanty, Sarmistha S; Dakappa, Shruthi Shirur SS; Shariff, Rezwan R; Patel, Saloni S; Swamy, Mruthyunjaya Mathapathi MM; Majumdar, Amitabha A; Setty, Subba Rao Gangi SRG
Publication Date: 2019-03-19

Variant appearance in text: PI3K: N370S
PubMed Link: 30890691
Variant Present in the following documents:
  • 41419_2019_Article_1478.pdf
View BVdb publication page



Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.

Cell Stem Cell
Lang, Charmaine C; Campbell, Kieran R KR; Ryan, Brent J BJ; Carling, Phillippa P; Attar, Moustafa M; Vowles, Jane J; Perestenko, Olga V OV; Bowden, Rory R; Baig, Fahd F; Kasten, Meike M; Hu, Michele T MT; Cowley, Sally A SA; Webber, Caleb C; Wade-Martins, Richard R
Publication Date: 2019-01-03

Variant appearance in text: PI3K: N370S
PubMed Link: 30503143
Variant Present in the following documents:
  • mmc2.pdf
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Induced Pluripotent Stem Cell Neuronal Models for the Study of Autophagy Pathways in Human Neurodegenerative Disease.

Cells
Jiménez-Moreno, Natalia N; Stathakos, Petros P; Caldwell, Maeve A MA; Lane, Jon D JD
Publication Date: 2017-08-11

Variant appearance in text: PI3K: N370S
PubMed Link: 28800101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Roles for the ubiquitin-proteasome pathway in protein quality control and signaling in the retina: implications in the pathogenesis of age-related macular degeneration.

Molecular Aspects Of Medicine
Shang, Fu F; Taylor, Allen A
Publication Date: 2012-08

Variant appearance in text: PI3K: N370S
PubMed Link: 22521794
Variant Present in the following documents:
  • Main text
View BVdb publication page