Results 61 to 70 of about 6,264 (195)

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

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients [PDF]

, 2016
BACKGROUND: The objective of this study was to evaluate whether the levels of coenzyme Q10 (CoQ10) in brain tissue of multiple system atrophy (MSA) patients differ from those in elderly controls and in patients with other neurodegenerative diseases ...
Bettencourt, C, Chalasani, A, Hargreaves, I, Holton, JL, Houlden, H, Kiely, AP, Neergheen, V, Schottlaender, LV   +7 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 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

Microstructural MRI basis of the cognitive functions in patients with Spinocerebellar ataxia type 2 [PDF]

, 2005
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum. The particular atrophy pattern results in some typical clinical features mainly including motor deficits.
Bozzali, M, Cercignani, M, Clausi, S, Iacobacci, C, Leggio, M, Lupo, M, Masciullo, M, Molinari, M, Olivito, G, Romano, S   +9 more
core   +1 more source

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

Advanced Science, EarlyView.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu, Ju‐Chan Park, Heesoo Uhm, Yong‐Woo Kim, Hyeon Woo Im, Sangsu Bae   +5 more
wiley   +1 more source

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

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

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

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