PMC Links for Gene (Select 9131) - PMC

Links from Gene

Items: 1 to 20 of 248

<< First< Prev

Page of 13

Select item 102602801.

AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization

Yue QIU, Hongyang WANG, Huaye PAN, Jing GUAN, Lei YAN, Mingjie FAN, Hui ZHOU, Xuanhao ZHOU, Kaiwen WU, Zexiao JIA, Qianqian ZHUANG, Zhaoying LEI, Mengyao LI, Xue DING, Aifu LIN, Yong FU, Dong ZHANG, Qiuju WANG, Qingfeng YAN

J Zhejiang Univ Sci B. 2023 Feb 15; 24(2): 172–184. doi: 10.1631/jzus.B2200081

PMCID:: PMC10260280

Abstract Article PDF–3.0M

Select item 82080432.

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, Richard Steet

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006081. doi: 10.1101/mcs.a006081

PMCID:: PMC8208043

Abstract Article PDF–4.9M

Select item 78226883.

W196 and the β-Hairpin Motif Modulate the Redox Switch of Conformation and the Biomolecular Interaction Network of the Apoptosis-Inducing Factor

Silvia Romero-Tamayo, Ruben Laplaza, Adrian Velazquez-Campoy, Raquel Villanueva, Milagros Medina, Patricia Ferreira

Oxid Med Cell Longev. 2021; 2021: 6673661. Published online 2021 Jan 15. doi: 10.1155/2021/6673661

PMCID:: PMC7822688

Abstract Article PDF–3.8M

Select item 73501774.

High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population

Hongyang Wang, Dan Bing, Jin Li, Linyi Xie, Fen Xiong, Lan Lan, Dayong Wang, Jing Guan, Qiuju Wang

Neural Plast. 2020; 2020: 5625768. Published online 2020 Jul 1. doi: 10.1155/2020/5625768

PMCID:: PMC7350177

Abstract Article PDF–798K

Select item 61532845.

AIF promotes a JNK1-mediated cadherin switch independently of respiratory chain stabilization

Andrew J. Scott, Sierra A. Walker, Joshua J. Krank, Amanda S. Wilkinson, Kaitlyn M. Johnson, Eric M. Lewis, John C. Wilkinson

J Biol Chem. 2018 Sep 21; 293(38): 14707–14722. Published online 2018 Aug 9. doi: 10.1074/jbc.RA118.004022

PMCID:: PMC6153284

Abstract Article PDF–3.1M

Select item 57391766.

TPGS/Phospholipids Mixed Micelles for Delivery of Icariside II to Multidrug-Resistant Breast Cancer

Jie Song, Houcai Huang, Zhi Xia, Yingjie Wei, Nan Yao, Li Zhang, Hongmei Yan, Xiaobin Jia, Zhenhai Zhang

Integr Cancer Ther. 2016 Sep; 15(3): 390–399. Published online 2015 Aug 20. doi: 10.1177/1534735415596571

PMCID:: PMC5739176

Abstract Article PDF–900K

Select item 57057597.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver

Neurogenetics. 2017; 18(4): 185–194. Published online 2017 Aug 26. doi: 10.1007/s10048-017-0520-x

PMCID:: PMC5705759

Abstract Article PDF–4.2M

Select item 56937548.

A Novel Missense Mutation in AIFM1 Results in Axonal Polyneuropathy and Misassembly of OXPHOS Complexes

Bo Hu, Michael Wang, Ryan Castoro, Megan Simmons, Richard Dortch, Robin Yawn, Jun Li

Eur J Neurol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Eur J Neurol. 2017 Dec; 24(12): 1499–1506. Published online 2017 Oct 7. doi: 10.1111/ene.13452

PMCID:: PMC5693754

Abstract Article PDF–765K

Select item 51431739.

Defining NADH-driven Allostery Regulating Apoptosis-Inducing Factor

Chris A. Brosey, Chris Ho, Winnie Z. Long, Sukrit Singh, Kathryn Burnett, Greg L. Hura, Jay C. Nix, Gregory R. Bowman, Tom Ellenberger, John A. Tainer

Structure. Author manuscript; available in PMC 2017 Dec 6.

Published in final edited form as: Structure. 2016 Dec 6; 24(12): 2067–2079. Published online 2016 Nov 3. doi: 10.1016/j.str.2016.09.012

PMCID:: PMC5143173

Abstract Article PDF–2.5M

Select item 484194810.

Basal metabolic state governs AIF-dependent growth support in pancreatic cancer cells

Andrew J. Scott, Amanda S. Wilkinson, John C. Wilkinson

BMC Cancer. 2016; 16: 286. Published online 2016 Apr 23. doi: 10.1186/s12885-016-2320-3

PMCID:: PMC4841948

Abstract Article PDF–1.9M

Select item 475537711.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D'Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi-Vici, Rosalba Carrozzo, Enrico Bertini

Eur J Hum Genet. 2016 Mar; 24(3): 463–466. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.141

PMCID:: PMC4755377

Abstract Article PDF–1.1M

Select item 461211312.

Novel insights into the mitochondrial permeability transition

Massimo Bonora, José Manuel Bravo-San Pedro, Guido Kroemer, Lorenzo Galluzzi, Paolo Pinton

Cell Cycle. 2014 Sep 1; 13(17): 2666–2670. Published online 2014 Oct 30. doi: 10.4161/15384101.2014.949082

PMCID:: PMC4612113

Abstract Article PDF–342K

Select item 452916013.

Embelin-Induced Apoptosis of Human Prostate Cancer Cells Is Mediated through Modulation of Akt and β-Catenin Signaling

Nahee Park, Hyoung Seok Baek, Young-Jin Chun

PLoS One. 2015; 10(8): e0134760. Published online 2015 Aug 7. doi: 10.1371/journal.pone.0134760

PMCID:: PMC4529160

Abstract Article PDF–9.1M

Select item 451873514.

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Liang Zong, Jing Guan, Megan Ealy, Qiujing Zhang, Dayong Wang, Hongyang Wang, Yali Zhao, Zhirong Shen, Colleen A Campbell, Fengchao Wang, Ju Yang, Wei Sun, Lan Lan, Dalian Ding, Linyi Xie, Yue Qi, Xin Lou, Xusheng Huang, Qiang Shi, Suhua Chang, Wenping Xiong, Zifang Yin, Ning Yu, Hui Zhao, Jun Wang, Jing Wang, Richard J Salvi, Christine Petit, Richard J H Smith, Qiuju Wang

J Med Genet. 2015 Aug; 52(8): 523–531. Published online 2015 May 18. doi: 10.1136/jmedgenet-2014-102961