PRNP c.278G>C ;(p.G93A)

Variant ID: 20-4680144-G-C

NM_000311.3(PRNP):c.278G>C;(p.G93A)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Neurodegenerative Diseases: From Dysproteostasis, Altered Calcium Signalosome to Selective Neuronal Vulnerability to AAV-Mediated Gene Therapy.

International Journal Of Molecular Sciences
Quach, Tam T TT; Stratton, Harrison J HJ; Khanna, Rajesh R; Mackey-Alfonso, Sabrina S; Deems, Nicolas N; Honnorat, Jérome J; Meyer, Kathrin K; Duchemin, Anne-Marie AM
Publication Date: 2022-11-16

Variant appearance in text: CJD: G93A
PubMed Link: 36430666
Variant Present in the following documents:
  • Main text
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Translational potential of base-editing tools for gene therapy of monogenic diseases.

Frontiers In Bioengineering And Biotechnology
Reshetnikov, Vasiliy V VV; Chirinskaite, Angelina V AV; Sopova, Julia V JV; Ivanov, Roman A RA; Leonova, Elena I EI
Publication Date: 2022

Variant appearance in text: PRNP: G93A
PubMed Link: 36032737
Variant Present in the following documents:
  • Main text
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Applications of Various Types of Nanomaterials for the Treatment of Neurological Disorders.

Nanomaterials (Basel, Switzerland)
Waris, Abdul A; Ali, Asmat A; Khan, Atta Ullah AU; Asim, Muhammad M; Zamel, Doaa D; Fatima, Kinza K; Raziq, Abdur A; Khan, Muhammad Ajmal MA; Akbar, Nazia N; Baset, Abdul A; Abourehab, Mohammed A S MAS
Publication Date: 2022-06-22

Variant appearance in text: CJD: G93A
PubMed Link: 35807977
Variant Present in the following documents:
  • Main text
  • nanomaterials-12-02140.pdf
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Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.

International Journal Of Molecular Sciences
Tarnacka, Beata B; Jopowicz, Anna A; Maślińska, Maria M
Publication Date: 2021-07-22

Variant appearance in text: CJD: G93A
PubMed Link: 34360586
Variant Present in the following documents:
  • Main text
  • ijms-22-07820.pdf
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Caenorhabditis elegans as a model system for studying aging-associated neurodegenerative diseases.

Translational Medicine Of Aging
Van Pelt, Kate M KM; Truttmann, Matthias C MC
Publication Date: 2020

Variant appearance in text: CJD: G93A
PubMed Link: 34327290
Variant Present in the following documents:
  • Main text
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Utilising Induced Pluripotent Stem Cells in Neurodegenerative Disease Research: Focus on Glia.

International Journal Of Molecular Sciences
Albert, Katrina K; Niskanen, Jonna J; Kälvälä, Sara S; Lehtonen, Šárka Š
Publication Date: 2021-04-21

Variant appearance in text: CJD: G93A
PubMed Link: 33919317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of brain-derived extracellular vesicles reveals changes in cellular origin after stroke and enrichment of the prion protein with a potential role in cellular uptake.

Journal Of Extracellular Vesicles
Brenna, Santra S; Altmeppen, Hermann C HC; Mohammadi, Behnam B; Rissiek, Björn B; Schlink, Florence F; Ludewig, Peter P; Krisp, Christoph C; Schlüter, Hartmut H; Failla, Antonio Virgilio AV; Schneider, Carola C; Glatzel, Markus M; Puig, Berta B; Magnus, Tim T
Publication Date: 2020-08-27

Variant appearance in text: CJD: G93A
PubMed Link: 32944194
Variant Present in the following documents:
  • ZJEV_9_1809065.pdf
View BVdb publication page



The PERK-Dependent Molecular Mechanisms as a Novel Therapeutic Target for Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Rozpędek-Kamińska, Wioletta W; Siwecka, Natalia N; Wawrzynkiewicz, Adam A; Wojtczak, Radosław R; Pytel, Dariusz D; Diehl, J Alan JA; Majsterek, Ireneusz I
Publication Date: 2020-03-19

Variant appearance in text: CJD: G93A
PubMed Link: 32204380
Variant Present in the following documents:
  • Main text
  • ijms-21-02108.pdf
View BVdb publication page



The basis of clinicopathological heterogeneity in TDP-43 proteinopathy.

Acta Neuropathologica
Kawakami, Ito I; Arai, Tetsuaki T; Hasegawa, Masato M
Publication Date: 2019-11

Variant appearance in text: CJD: G93A
PubMed Link: 31555895
Variant Present in the following documents:
  • 401_2019_Article_2077.pdf
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Small Molecules Attenuate the Interplay between Conformational Fluctuations, Early Oligomerization and Amyloidosis of Alpha Synuclein.

Scientific Reports
Ghosh, Sumanta S; Kundu, Amrita A; Chattopadhyay, Krishnananda K
Publication Date: 2018-04-03

Variant appearance in text: CJD: G93A
PubMed Link: 29615762
Variant Present in the following documents:
  • 41598_2018_Article_23718.pdf
View BVdb publication page



Inhibition of group-I metabotropic glutamate receptors protects against prion toxicity.

Plos Pathogens
Goniotaki, Despoina D; Lakkaraju, Asvin K K AKK; Shrivastava, Amulya N AN; Bakirci, Pamela P; Sorce, Silvia S; Senatore, Assunta A; Marpakwar, Rajlakshmi R; Hornemann, Simone S; Gasparini, Fabrizio F; Triller, Antoine A; Aguzzi, Adriano A
Publication Date: 2017-11

Variant appearance in text: PRNP: G93A
PubMed Link: 29176838
Variant Present in the following documents:
  • ppat.1006733.pdf
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The relevance of contact-independent cell-to-cell transfer of TDP-43 and SOD1 in amyotrophic lateral sclerosis.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Hanspal, Maya A MA; Dobson, Christopher M CM; Yerbury, Justin J JJ; Kumita, Janet R JR
Publication Date: 2017-11

Variant appearance in text: PRNP: G93A
PubMed Link: 28711596
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging roles of extracellular vesicles in neurodegenerative disorders: focus on HIV-associated neurological complications.

Cell Death & Disease
Hu, Guoku G; Yang, Lu L; Cai, Yu Y; Niu, Fang F; Mezzacappa, Frank F; Callen, Shannon S; Fox, Howard S HS; Buch, Shilpa S
Publication Date: 2016-11-24

Variant appearance in text: PRNP: G93A
PubMed Link: 27882942
Variant Present in the following documents:
  • Main text
View BVdb publication page



The unfolded protein response: mechanisms and therapy of neurodegeneration.

Brain : A Journal Of Neurology
Smith, Heather L HL; Mallucci, Giovanna R GR
Publication Date: 2016-08

Variant appearance in text: PRNP: G93A
PubMed Link: 27190028
Variant Present in the following documents:
  • Main text
  • aww101.pdf
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The Unfolded Protein Response and the Role of Protein Disulfide Isomerase in Neurodegeneration.

Frontiers In Cell And Developmental Biology
Perri, Emma R ER; Thomas, Colleen J CJ; Parakh, Sonam S; Spencer, Damian M DM; Atkin, Julie D JD
Publication Date: 2015

Variant appearance in text: CJD: G93A
PubMed Link: 26779479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using C. elegans to discover therapeutic compounds for ageing-associated neurodegenerative diseases.

Chemistry Central Journal
Chen, Xi X; Barclay, Jeff W JW; Burgoyne, Robert D RD; Morgan, Alan A
Publication Date: 2015

Variant appearance in text: CJD: G93A
PubMed Link: 26617668
Variant Present in the following documents:
  • Main text
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Degradation of misfolded proteins in neurodegenerative diseases: therapeutic targets and strategies.

Experimental & Molecular Medicine
Ciechanover, Aaron A; Kwon, Yong Tae YT
Publication Date: 2015-03-13

Variant appearance in text: CJD: G93A
PubMed Link: 25766616
Variant Present in the following documents:
  • Main text
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Evidence for prion-like mechanisms in several neurodegenerative diseases: potential implications for immunotherapy.

Clinical & Developmental Immunology
Marciniuk, Kristen K; Taschuk, Ryan R; Napper, Scott S
Publication Date: 2013

Variant appearance in text: CJD: G93A
PubMed Link: 24228054
Variant Present in the following documents:
  • CDI2013-473706.pdf
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Disulfide bonding in neurodegenerative misfolding diseases.

International Journal Of Cell Biology
Mossuto, Maria Francesca MF
Publication Date: 2013

Variant appearance in text: CJD: G93A
PubMed Link: 23983694
Variant Present in the following documents:
  • Main text
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Redox processes in neurodegenerative disease involving reactive oxygen species.

Current Neuropharmacology
Kovacic, Peter P; Somanathan, Ratnasamy R
Publication Date: 2012-12

Variant appearance in text: CJD: G93A
PubMed Link: 23730253
Variant Present in the following documents:
  • CN-10-289.pdf
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Amyotrophic lateral sclerosis and organ donation: is there risk of disease transmission?

Annals Of Neurology
Holmes, Brandon B BB; Diamond, Marc I MI
Publication Date: 2012-12

Variant appearance in text: CJD: G93A
PubMed Link: 23280834
Variant Present in the following documents:
  • Main text
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Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients.

Bmc Genomics
Saris, Christiaan G J CG; Horvath, Steve S; van Vught, Paul W J PW; van Es, Michael A MA; Blauw, Hylke M HM; Fuller, Tova F TF; Langfelder, Peter P; DeYoung, Joseph J; Wokke, John H J JH; Veldink, Jan H JH; van den Berg, Leonard H LH; Ophoff, Roel A RA
Publication Date: 2009-08-27

Variant appearance in text: PRNP: G93A
PubMed Link: 19712483
Variant Present in the following documents:
  • 1471-2164-10-405.pdf
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The distinct roles of cyclooxygenase-1 and -2 in neuroinflammation: implications for translational research.

Trends In Pharmacological Sciences
Choi, Sang-Ho SH; Aid, Saba S; Bosetti, Francesca F
Publication Date: 2009-04

Variant appearance in text: CJD: G93A
PubMed Link: 19269697
Variant Present in the following documents:
  • Main text
View BVdb publication page