Results 41 to 50 of about 3,355 (169)

SIRT1 Prevents Ferroptosis in Corneal Epithelial Cells by Enhancing HIF1α Protein Stability in Dry Eye Disease

Advanced Science, EarlyView.
Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian, Zhenmin Le, Xuanqiao Ye, Zimo Wang, Jiuxiao Li, Chenyu Dong, Yetao Shen, Jiazheng Li, Yueping Ren, Xiaoyin Ma, Wei Chen, Qinxiang Zheng   +11 more
wiley   +1 more source

Safety and Efficacy of The Stem Cell Transplantation in Friedreich’s Ataxia: A Report of Three Cases

International Journal of Physiotherapy, 2021
Background: Friedreich’s ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats in intron 1 of the FXN gene lead to its heterochromatinization and transcriptional silencing.
Riza Azeri, Duygu Koyuncu Irmak, Eda Sun, Erdal Karaöz   +3 more
doaj   +1 more source

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, EarlyView.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García, José A. Pineda‐Pardo, Inés Trigo‐Damas, Marta Gutiérrez, Marta Castillo‐Ortiz, Megan Carrillo, Alejandro Reinares‐Sebastian, Víctor Medina‐Chavarrías, Itay Rachmilevitch, Masahiko Takada, José A. Obeso, Javier Blesa   +11 more
wiley   +1 more source

Late-Onset Friedreich’s Ataxia

Pediatric Neurology Briefs, 1993
Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University ...
J Gordon Millichap
doaj   +1 more source

RTA‐408 Enhances Radiosensitivity and Inhibited Tumor Progression via JNK Pathway in Glioblastoma

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Glioblastoma (GBM) is an aggressive brain tumor with poor prognosis owing to its high invasiveness and resistance to therapy. RTA‐408, a synthetic triterpenoid and nuclear factor erythroid 2‐related factor 2 activator, exhibits anti‐inflammatory and anti‐cancer properties; however, its effects on GBM remain unclear. This study investigated the
Hung‐Pei Tsai, Hao Qin, Yoon Bin Chong, I‐Hsiang Chen, Shih‐Hsun Kuo, Tzu‐Ting Tseng, Ann‐Shung Lieu   +6 more
wiley   +1 more source

Friedreich’s ataxia

Paediatria Croatica, 2011
Friedreich’s ataxia (FRDA) is the most common autosomal recessive ataxia. This neurodegenerative disease is caused by expansion of a GAA triplet repeat located within the first intron of the frataxin gene on chormosome 9q13. There is clear correlation between the size of expanded repeat and severity of the phenotype.
M. Čačić Hribljan, M. Jurin
openaire   +2 more sources

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels

Data in Brief, 2018
As part of an ongoing program to develop potential therapeutic agents for the treatment of the neurodegenerative disease Friedreich׳s ataxia (FRDA), we have prepared a number of lipophilic methylene blue analogues.
Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P. Visavadiya, Sidney M. Hecht, Omar M. Khdour   +4 more
doaj   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

eLife, 2017
Friedreich's ataxia (FRDA), the most common inherited ataxia, is caused by recessive mutations that reduce the levels of frataxin (FXN), a mitochondrial iron binding protein.
Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan, Daniel H Geschwind   +6 more
doaj   +1 more source

Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi, Azadeh Niknejad, Elaheh Amini   +2 more
wiley   +1 more source