GC c.737_738inv ;(p.A246E)

Variant ID: 4-72623852-AG-CT

NM_000583.3(GC):c.737_738inv;(p.A246E)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Mu opioid receptor-mediated release of endolysosome iron increases levels of mitochondrial iron, reactive oxygen species, and cell death.

Neuroimmune Pharmacology And Therapeutics
Halcrow, Peter W PW; Kumar, Nirmal N; Hao, Emily E; Khan, Nabab N; Meucci, Olimpia O; Geiger, Jonathan D JD
Publication Date: 2023-03-25

Variant appearance in text: GC: A246E
PubMed Link: 37027339
Variant Present in the following documents:
  • nipt-2-1-nipt-2022-0013.pdf
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: Ala246Glu
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Immortalized hippocampal astrocytes from 3xTg-AD mice, a new model to study disease-related astrocytic dysfunction: a comparative review.

Neural Regeneration Research
Tapella, Laura L; Dematteis, Giulia G; Genazzani, Armando A AA; De Paola, Massimiliano M; Lim, Dmitry D
Publication Date: 2023-08

Variant appearance in text: GC: A246E
PubMed Link: 36751778
Variant Present in the following documents:
  • NRR-18-1672.pdf
View BVdb publication page



Glucocorticoid-Dependent Mechanisms of Brain Tolerance to Hypoxia.

International Journal Of Molecular Sciences
Rybnikova, Elena E; Nalivaeva, Natalia N
Publication Date: 2021-07-26

Variant appearance in text: GC: A246E
PubMed Link: 34360746
Variant Present in the following documents:
  • ijms-22-07982.pdf
View BVdb publication page



Mitochondria as Potential Targets in Alzheimer Disease Therapy: An Update.

Frontiers In Pharmacology
Cenini, Giovanna G; Voos, Wolfgang W
Publication Date: 2019

Variant appearance in text: GC: A246E
PubMed Link: 31507410
Variant Present in the following documents:
  • fphar-10-00902.pdf
View BVdb publication page



The Therapeutic Potential of Metformin in Neurodegenerative Diseases.

Frontiers In Endocrinology
Rotermund, Carola C; Machetanz, Gerrit G; Fitzgerald, Julia C JC
Publication Date: 2018

Variant appearance in text: GC: A246E
PubMed Link: 30072954
Variant Present in the following documents:
  • fendo-09-00400.pdf
View BVdb publication page



Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hata, Masayuki M; Ikeda, Hanako O HO; Iwai, Sachiko S; Iida, Yuto Y; Gotoh, Norimoto N; Asaka, Isao I; Ikeda, Kazutaka K; Isobe, Yosuke Y; Hori, Aya A; Nakagawa, Saori S; Yamato, Susumu S; Arita, Makoto M; Yoshimura, Nagahisa N; Tsujikawa, Akitaka A
Publication Date: 2018-04-10

Variant appearance in text: GC: A246E
PubMed Link: 29581279
Variant Present in the following documents:
  • pnas.201717338SI.pdf
View BVdb publication page



Involvement of lysosomal dysfunction in autophagosome accumulation and early pathologies in adipose tissue of obese mice.

Autophagy
Mizunoe, Yuhei Y; Sudo, Yuka Y; Okita, Naoyuki N; Hiraoka, Hidenori H; Mikami, Kentaro K; Narahara, Tomohiro T; Negishi, Arisa A; Yoshida, Miki M; Higashibata, Rikako R; Watanabe, Shukoh S; Kaneko, Hiroki H; Natori, Daiki D; Furuichi, Takuma T; Yasukawa, Hiromine H; Kobayashi, Masaki M; Higami, Yoshikazu Y
Publication Date: 2017-04-03

Variant appearance in text: GC: A246E
PubMed Link: 28121218
Variant Present in the following documents:
  • kaup-13-04-1274850.pdf
View BVdb publication page



Autophagy Activation by Transcription Factor EB (TFEB) in Striatum of HDQ175/Q7 Mice.

Journal Of Huntington'S Disease
Vodicka, Petr P; Chase, Kathryn K; Iuliano, Maria M; Tousley, Adelaide A; Valentine, Dana T DT; Sapp, Ellen E; Kegel-Gleason, Kimberly B KB; Sena-Esteves, Miguel M; Aronin, Neil N; DiFiglia, Marian M
Publication Date: 2016-10-01

Variant appearance in text: GC: A246E
PubMed Link: 27689619
Variant Present in the following documents:
  • jhd-5-jhd160211.pdf
View BVdb publication page



Epigenetics of Aging and Alzheimer's Disease: Implications for Pharmacogenomics and Drug Response.

International Journal Of Molecular Sciences
Cacabelos, Ramón R; Torrellas, Clara C
Publication Date: 2015-12-21

Variant appearance in text: GC: A246E
PubMed Link: 26703582
Variant Present in the following documents:
  • Main text
  • ijms-16-26236.pdf
View BVdb publication page