PARK7 c.535G>A ;(p.A179T)

Variant ID: 1-8045079-G-A

NM_007262.4(PARK7):c.535G>A;(p.A179T)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Genes
Vacchiano, Veria V; Bartoletti-Stella, Anna A; Rizzo, Giovanni G; Avoni, Patrizia P; Parchi, Piero P; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S
Publication Date: 2022-07-22

Variant appearance in text: PARK7: 535G>A
PubMed Link: 35893043
Variant Present in the following documents:
  • genes-13-01306.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: PARK7: A179T
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Unfolding is the driving force for mitochondrial import and degradation of the Parkinson's disease-related protein DJ-1.

Journal Of Cell Science
Queliconi, Bruno Barros BB; Kojima, Waka W; Kimura, Mayumi M; Imai, Kenichiro K; Udagawa, Chisato C; Motono, Chie C; Hirokawa, Takatsugu T; Tashiro, Shinya S; Caaveiro, Jose M M JMM; Tsumoto, Kouhei K; Yamano, Koji K; Tanaka, Keiji K; Matsuda, Noriyuki N
Publication Date: 2021-11-15

Variant appearance in text: DJ-1: A179T
PubMed Link: 34676411
Variant Present in the following documents:
  • joces-134-258653-s1.pdf
View BVdb publication page



Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration
Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T
Publication Date: 2021-06-21

Variant appearance in text: PARK7: A179T; rs71653622
PubMed Link: 34148545
Variant Present in the following documents:
  • 13024_2021_455_MOESM1_ESM.pdf
View BVdb publication page



Mitochondrial LonP1 protease is implicated in the degradation of unstable Parkinson's disease-associated DJ-1/PARK 7 missense mutants.

Scientific Reports
Sánchez-Lanzas, Raúl R; Castaño, José G JG
Publication Date: 2021-04-01

Variant appearance in text: DJ-1: A179T
PubMed Link: 33795807
Variant Present in the following documents:
  • Main text
  • 41598_2021_86847_MOESM1_ESM.pdf
  • 41598_2021_Article_86847.pdf
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: PARK7: A179T
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports
Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-06-10

Variant appearance in text: PARK7: 535G>A; Ala179Thr; rs71653622
PubMed Link: 31182772
Variant Present in the following documents:
  • 41598_2019_44848_MOESM1_ESM.pdf
View BVdb publication page



Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro.

Scientific Reports
Matsuda, Noriyuki N; Kimura, Mayumi M; Queliconi, Bruno Barros BB; Kojima, Waka W; Mishima, Masaki M; Takagi, Kenji K; Koyano, Fumika F; Yamano, Koji K; Mizushima, Tsunehiro T; Ito, Yutaka Y; Tanaka, Keiji K
Publication Date: 2017-10-09

Variant appearance in text: DJ-1: A179T
PubMed Link: 28993701
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_13146.pdf
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: PARK7: A179T
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Molecular Neurodegeneration
Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C
Publication Date: 2016-04-19

Variant appearance in text: DJ-1: A179T; rs71653622
PubMed Link: 27094865
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_97.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: PARK7: A179T; rs71653622
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation
Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2010-07

Variant appearance in text: PARK7: 535G>A; Ala179Thr; rs71653622
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
View BVdb publication page