PRRT2 c.88G>C ;(p.A30P)

Variant ID: 16-29824463-G-C

NM_145239.2(PRRT2):c.88G>C;(p.A30P)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Molecular Mechanisms and Pathophysiological Significance of Eryptosis.

International Journal Of Molecular Sciences
Alghareeb, Sumiah A SA; Alfhili, Mohammad A MA; Fatima, Sabiha S
Publication Date: 2023-03-07

Variant appearance in text: PKC: A30P
PubMed Link: 36982153
Variant Present in the following documents:
  • ijms-24-05079.pdf
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Overview of the structure and function of the dopamine transporter and its protein interactions.

Frontiers In Physiology
Nepal, Binod B; Das, Sanjay S; Reith, Maarten E ME; Kortagere, Sandhya S
Publication Date: 2023

Variant appearance in text: PKC: Ala30Pro
PubMed Link: 36935752
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein kinase R dependent phosphorylation of α-synuclein regulates its membrane binding and aggregation.

Pnas Nexus
Reimer, Lasse L; Gram, Hjalte H; Jensen, Nanna Møller NM; Betzer, Cristine C; Yang, Li L; Jin, Lorrain L; Shi, Min M; Boudeffa, Driss D; Fusco, Giuliana G; De Simone, Alfonso A; Kirik, Deniz D; Lashuel, Hilal A HA; Zhang, Jing J; Jensen, Poul Henning PH
Publication Date: 2022-11

Variant appearance in text: PKC: A30P
PubMed Link: 36712380
Variant Present in the following documents:
  • Main text
  • pgac259.pdf
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The role of brain derived neurotrophic factor in central nervous system.

Frontiers In Aging Neuroscience
Li, Yiyi Y; Li, Fang F; Qin, Dongdong D; Chen, Hongyu H; Wang, Jianhao J; Wang, Jiabei J; Song, Shafei S; Wang, Chao C; Wang, Yamei Y; Liu, Songyan S; Gao, Dandan D; Wang, Zhi-Hao ZH
Publication Date: 2022

Variant appearance in text: PKC: A30P
PubMed Link: 36158555
Variant Present in the following documents:
  • fnagi-14-986443.pdf
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Mechanistic Insight from Preclinical Models of Parkinson's Disease Could Help Redirect Clinical Trial Efforts in GDNF Therapy.

International Journal Of Molecular Sciences
Delgado-Minjares, Karen M KM; Martinez-Fong, Daniel D; Martínez-Dávila, Irma A IA; Bañuelos, Cecilia C; Gutierrez-Castillo, M E ME; Blanco-Alvarez, Víctor Manuel VM; Cardenas-Aguayo, Maria-Del-Carmen MD; Luna-Muñoz, José J; Pacheco-Herrero, Mar M; Soto-Rojas, Luis O LO
Publication Date: 2021-10-28

Variant appearance in text: PKC: A30P
PubMed Link: 34769132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathways to Parkinson's disease: a spotlight on 14-3-3 proteins.

Npj Parkinson'S Disease
Giusto, E E; Yacoubian, T A TA; Greggio, E E; Civiero, L L
Publication Date: 2021-09-21

Variant appearance in text: PKC: A30P
PubMed Link: 34548498
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_230.pdf
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Advances in intranasal application of stem cells in the treatment of central nervous system diseases.

Stem Cell Research & Therapy
Zhang, Yu-Ting YT; He, Kai-Jie KJ; Zhang, Jin-Bao JB; Ma, Quan-Hong QH; Wang, Fen F; Liu, Chun-Feng CF
Publication Date: 2021-03-24

Variant appearance in text: PKC: A30P
PubMed Link: 33762014
Variant Present in the following documents:
  • 13287_2021_Article_2274.pdf
View BVdb publication page



Prolyl Oligopeptidase Regulates Dopamine Transporter Oligomerization and Phosphorylation in a PKC- and ERK-Independent Manner.

International Journal Of Molecular Sciences
Julku, Ulrika H UH; Jäntti, Maria M; Svarcbahs, Reinis R; Myöhänen, Timo T TT
Publication Date: 2021-02-10

Variant appearance in text: PKC: A30P
PubMed Link: 33579026
Variant Present in the following documents:
  • ijms-22-01777.pdf
View BVdb publication page



Melatonin in Wine and Beer: Beneficial Effects.

Molecules (Basel, Switzerland)
Marhuenda, Javier J; Villaño, Débora D; Arcusa, Raúl R; Zafrilla, Pilar P
Publication Date: 2021-01-11

Variant appearance in text: PKC: A30P
PubMed Link: 33440795
Variant Present in the following documents:
  • molecules-26-00343.pdf
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The Emerging Role of Rab5 in Membrane Receptor Trafficking and Signaling Pathways.

Biochemistry Research International
Yuan, Wanqiong W; Song, Chunli C
Publication Date: 2020

Variant appearance in text: PKC: A30P
PubMed Link: 32104603
Variant Present in the following documents:
  • BRI2020-4186308.pdf
View BVdb publication page



Phytochemicals Bridging Autophagy Induction and Alpha-Synuclein Degradation in Parkinsonism.

International Journal Of Molecular Sciences
Limanaqi, Fiona F; Biagioni, Francesca F; Busceti, Carla Letizia CL; Ryskalin, Larisa L; Polzella, Maico M; Frati, Alessandro A; Fornai, Francesco F
Publication Date: 2019-07-03

Variant appearance in text: PKC: A30P
PubMed Link: 31277285
Variant Present in the following documents:
  • ijms-20-03274.pdf
View BVdb publication page



Living in Promiscuity: The Multiple Partners of Alpha-Synuclein at the Synapse in Physiology and Pathology.

International Journal Of Molecular Sciences
Longhena, Francesca F; Faustini, Gaia G; Spillantini, Maria Grazia MG; Bellucci, Arianna A
Publication Date: 2019-01-02

Variant appearance in text: PKC: A30P
PubMed Link: 30609739
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neurodegenerative Diseases: Regenerative Mechanisms and Novel Therapeutic Approaches.

Brain Sciences
Hussain, Rashad R; Zubair, Hira H; Pursell, Sarah S; Shahab, Muhammad M
Publication Date: 2018-09-15

Variant appearance in text: PKC: A30P
PubMed Link: 30223579
Variant Present in the following documents:
  • brainsci-08-00177.pdf
View BVdb publication page



NADPH oxidases in Parkinson's disease: a systematic review.

Molecular Neurodegeneration
Belarbi, Karim K; Cuvelier, Elodie E; Destée, Alain A; Gressier, Bernard B; Chartier-Harlin, Marie-Christine MC
Publication Date: 2017-11-13

Variant appearance in text: PKC: A30P
PubMed Link: 29132391
Variant Present in the following documents:
  • 13024_2017_Article_225.pdf
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Neuroprotective effect of chondroitin sulfate on SH‑SY5Y cells overexpressing wild‑type or A53T mutant α‑synuclein.

Molecular Medicine Reports
Ju, Chuanxia C; Gao, Jianjun J; Hou, Lin L; Wang, Lei L; Zhang, Fang F; Sun, Fusheng F; Zhang, Tingting T; Xu, Pingping P; Shi, Zhenyan Z; Hu, Fang F; Zhang, Congxiao C
Publication Date: 2017-12

Variant appearance in text: PKC: A30P
PubMed Link: 28990084
Variant Present in the following documents:
  • Main text
  • mmr-16-06-8721.pdf
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Selective LRRK2 kinase inhibition reduces phosphorylation of endogenous Rab10 and Rab12 in human peripheral mononuclear blood cells.

Scientific Reports
Thirstrup, Kenneth K; Dächsel, Justus C JC; Oppermann, Felix S FS; Williamson, Douglas S DS; Smith, Garrick P GP; Fog, Karina K; Christensen, Kenneth V KV
Publication Date: 2017-08-31

Variant appearance in text: PKC: A30P
PubMed Link: 28860483
Variant Present in the following documents:
  • 41598_2017_Article_10501.pdf
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Identification of a specific α-synuclein peptide (α-Syn 29-40) capable of eliciting microglial superoxide production to damage dopaminergic neurons.

Journal Of Neuroinflammation
Wang, Shijun S; Chu, Chun-Hsien CH; Guo, Mingri M; Jiang, Lulu L; Nie, Hui H; Zhang, Wei W; Wilson, Belinda B; Yang, Li L; Stewart, Tessandra T; Hong, Jau-Shyong JS; Zhang, Jing J
Publication Date: 2016-06-21

Variant appearance in text: PKC: A30P
PubMed Link: 27329107
Variant Present in the following documents:
  • Main text
  • 12974_2016_Article_606.pdf
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Neuroinflammation and J2 prostaglandins: linking impairment of the ubiquitin-proteasome pathway and mitochondria to neurodegeneration.

Frontiers In Molecular Neuroscience
Figueiredo-Pereira, Maria E ME; Rockwell, Patricia P; Schmidt-Glenewinkel, Thomas T; Serrano, Peter P
Publication Date: 2014

Variant appearance in text: PKC: A30P
PubMed Link: 25628533
Variant Present in the following documents:
  • Main text
  • fnmol-07-00104.pdf
View BVdb publication page



Overexpression of 14-3-3z promotes tau phosphorylation at Ser262 and accelerates proteosomal degradation of synaptophysin in rat primary hippocampal neurons.

Plos One
Qureshi, Hamid Y HY; Han, Dong D; MacDonald, Ryen R; Paudel, Hemant K HK
Publication Date: 2013

Variant appearance in text: PKC: A30P
PubMed Link: 24367683
Variant Present in the following documents:
  • pone.0084615.pdf
View BVdb publication page



Phosphoinositides: tiny lipids with giant impact on cell regulation.

Physiological Reviews
Balla, Tamas T
Publication Date: 2013-07

Variant appearance in text: PKC: A30P
PubMed Link: 23899561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of rho kinase enhances survival of dopaminergic neurons and attenuates axonal loss in a mouse model of Parkinson's disease.

Brain : A Journal Of Neurology
Tönges, Lars L; Frank, Tobias T; Tatenhorst, Lars L; Saal, Kim A KA; Koch, Jan C JC; Szego, Éva M ÉM; Bähr, Mathias M; Weishaupt, Jochen H JH; Lingor, Paul P
Publication Date: 2012-11

Variant appearance in text: PKC: A30P
PubMed Link: 23087045
Variant Present in the following documents:
  • aws254.pdf
View BVdb publication page



Chelators in the treatment of iron accumulation in Parkinson's disease.

International Journal Of Cell Biology
Mounsey, Ross B RB; Teismann, Peter P
Publication Date: 2012

Variant appearance in text: PKC: A30P
PubMed Link: 22754573
Variant Present in the following documents:
  • Main text
  • IJCB2012-983245.pdf
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Targeting microglia-mediated neurotoxicity: the potential of NOX2 inhibitors.

Cellular And Molecular Life Sciences : Cmls
Surace, Michael J MJ; Block, Michelle L ML
Publication Date: 2012-07

Variant appearance in text: PKC: A30P
PubMed Link: 22581365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microglial MAC1 receptor and PI3K are essential in mediating β-amyloid peptide-induced microglial activation and subsequent neurotoxicity.

Journal Of Neuroinflammation
Zhang, Dan D; Hu, Xiaoming X; Qian, Li L; Chen, Shih-Heng SH; Zhou, Hui H; Wilson, Belinda B; Miller, David S DS; Hong, Jau-Shyong JS
Publication Date: 2011-01-13

Variant appearance in text: PKC: A30P
PubMed Link: 21232086
Variant Present in the following documents:
  • 1742-2094-8-3.pdf
View BVdb publication page



{alpha}-synuclein and its A30P mutant affect actin cytoskeletal structure and dynamics.

Molecular Biology Of The Cell
Sousa, Vítor L VL; Bellani, Serena S; Giannandrea, Maila M; Yousuf, Malikmohamed M; Valtorta, Flavia F; Meldolesi, Jacopo J; Chieregatti, Evelina E
Publication Date: 2009-08

Variant appearance in text: PKC: Ala30Pro
PubMed Link: 19553474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiological and pathological role of alpha-synuclein in Parkinson's disease through iron mediated oxidative stress; the role of a putative iron-responsive element.

International Journal Of Molecular Sciences
Olivares, David D; Huang, Xudong X; Branden, Lars L; Greig, Nigel H NH; Rogers, Jack T JT
Publication Date: 2009-03

Variant appearance in text: PKC: A30P
PubMed Link: 19399246
Variant Present in the following documents:
  • Main text
  • ijms-10-01226.pdf
View BVdb publication page