PRNP c.347C>T ;(p.A116V)

Variant ID: 20-4680213-C-T

NM_000311.3(PRNP):c.347C>T;(p.A116V)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Proteostasis unbalance in prion diseases: Mechanisms of neurodegeneration and therapeutic targets.

Frontiers In Neuroscience
Thellung, Stefano S; Corsaro, Alessandro A; Dellacasagrande, Irene I; Nizzari, Mario M; Zambito, Martina M; Florio, Tullio T
Publication Date: 2022

Variant appearance in text: CJD: A116V
PubMed Link: 36148145
Variant Present in the following documents:
  • Main text
View BVdb publication page



N-Terminal Regions of Prion Protein: Functions and Roles in Prion Diseases.

International Journal Of Molecular Sciences
Hara, Hideyuki H; Sakaguchi, Suehiro S
Publication Date: 2020-08-28

Variant appearance in text: CJD: A116V
PubMed Link: 32872280
Variant Present in the following documents:
  • Main text
  • ijms-21-06233.pdf
View BVdb publication page



Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability.

Scientific Reports
Teferedegn, Eden Yitna EY; Yaman, Yalçın Y; Ün, Cemal C
Publication Date: 2020-04-24

Variant appearance in text: PRNP: A116V
PubMed Link: 32332800
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_63874.pdf
View BVdb publication page



Combining autophagy stimulators and cellulose ethers for therapy against prion disease.

Prion
Abdulrahman, Basant A BA; Tahir, Waqas W; Doh-Ura, Katsumi K; Gilch, Sabine S; Schatzl, Hermann M HM
Publication Date: 2019-01

Variant appearance in text: CJD: A116V
PubMed Link: 31578923
Variant Present in the following documents:
  • Main text
  • kprn-13-01-1670928.pdf
View BVdb publication page



Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences
Bernardi, Livia L; Bruni, Amalia C AC
Publication Date: 2019-07-23

Variant appearance in text: PRNP: A116V
PubMed Link: 31340582
Variant Present in the following documents:
  • ijms-20-03606.pdf
View BVdb publication page



Autophagy pathways in the treatment of prion diseases.

Current Opinion In Pharmacology
Abdelaziz, Dalia H DH; Abdulrahman, Basant A BA; Gilch, Sabine S; Schatzl, Hermann M HM
Publication Date: 2019-02

Variant appearance in text: CJD: A116V
PubMed Link: 31096117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oxidative and Inflammatory Events in Prion Diseases: Can They Be Therapeutic Targets?

Current Aging Science
Prasad, Kedar N KN; Bondy, Stephen C SC
Publication Date: 2019

Variant appearance in text: CJD: A116V
PubMed Link: 30636622
Variant Present in the following documents:
  • Main text
  • CAS-11-216.pdf
View BVdb publication page



Cellular prion protein is present in mitochondria of healthy mice.

Scientific Reports
Faris, Robert R; Moore, Roger A RA; Ward, Anne A; Race, Brent B; Dorward, David W DW; Hollister, Jason R JR; Fischer, Elizabeth R ER; Priola, Suzette A SA
Publication Date: 2017-02-02

Variant appearance in text: CJD: A116V
PubMed Link: 28148964
Variant Present in the following documents:
  • srep41556.pdf
View BVdb publication page



Interplay of endoplasmic reticulum stress and autophagy in neurodegenerative disorders.

Autophagy
Cai, Yu Y; Arikkath, Jyothi J; Yang, Lu L; Guo, Ming-Lei ML; Periyasamy, Palsamy P; Buch, Shilpa S
Publication Date: 2016

Variant appearance in text: PRNP: A116V
PubMed Link: 26902584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early Delivery of Misfolded PrP from ER to Lysosomes by Autophagy.

International Journal Of Cell Biology
Cortes, Constanza J CJ; Qin, Kefeng K; Norstrom, Eric M EM; Green, William N WN; Bindokas, Vytautas P VP; Mastrianni, James A JA
Publication Date: 2013

Variant appearance in text: CJD: A116V
PubMed Link: 24454378
Variant Present in the following documents:
  • Main text
  • IJCB2013-560421.pdf
View BVdb publication page



Cellular prion protein: from physiology to pathology.

Viruses
Yusa, Sei-ichi S; Oliveira-Martins, José B JB; Sugita-Konishi, Yoshiko Y; Kikuchi, Yutaka Y
Publication Date: 2012-11-14

Variant appearance in text: CJD: A116V
PubMed Link: 23202518
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival.

The Journal Of Biological Chemistry
Machado, Cleiton F CF; Beraldo, Flavio H FH; Santos, Tiago G TG; Bourgeon, Dominique D; Landemberger, Michele C MC; Roffé, Martin M; Martins, Vilma R VR
Publication Date: 2012-12-21

Variant appearance in text: CJD: A116V
PubMed Link: 23132868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prion protein facilitates uptake of zinc into neuronal cells.

Nature Communications
Watt, Nicole T NT; Taylor, David R DR; Kerrigan, Talitha L TL; Griffiths, Heledd H HH; Rushworth, Jo V JV; Whitehouse, Isobel J IJ; Hooper, Nigel M NM
Publication Date: 2012

Variant appearance in text: CJD: A116V
PubMed Link: 23072804
Variant Present in the following documents:
  • Main text
  • ncomms2135.pdf
View BVdb publication page



An N-terminal polybasic domain and cell surface localization are required for mutant prion protein toxicity.

The Journal Of Biological Chemistry
Solomon, Isaac H IH; Khatri, Natasha N; Biasini, Emiliano E; Massignan, Tania T; Huettner, James E JE; Harris, David A DA
Publication Date: 2011-04-22

Variant appearance in text: CJD: A116V
PubMed Link: 21385869
Variant Present in the following documents:
  • Main text
View BVdb publication page



A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Yang, Wenbin W; Cook, Julie J; Rassbach, Benjamin B; Lemus, Azucena A; DeArmond, Stephen J SJ; Mastrianni, James A JA
Publication Date: 2009-08-12

Variant appearance in text: CJD: A116V
PubMed Link: 19675240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cellular prion protein regulates beta-secretase cleavage of the Alzheimer's amyloid precursor protein.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Parkin, Edward T ET; Watt, Nicole T NT; Hussain, Ishrut I; Eckman, Elizabeth A EA; Eckman, Christopher B CB; Manson, Jean C JC; Baybutt, Herbert N HN; Turner, Anthony J AJ; Hooper, Nigel M NM
Publication Date: 2007-06-26

Variant appearance in text: CJD: A116V
PubMed Link: 17573534
Variant Present in the following documents:
  • Main text
View BVdb publication page