Results 51 to 60 of about 7,170 (177)

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia.

PLoS ONE, 2016
There is no current approved therapy for the ultimately lethal neuro- and cardio-degenerative disease Friedreich's ataxia (FA). Finding minimally-invasive molecular biomarkers of disease progression and drug effect could support smaller, shorter clinical
Genki Hayashi, Gino Cortopassi
doaj   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum [PDF]

, 2003
Two brothers are reported with early onset progressive cerebellar ataxia, dystonia, spasticity, and intellectual decline. • Neuroradiology showed cerebellar atrophy and features compatible with iron deposition in the putamen (including the “eye of ...
Dheyyat, M., Din, A., Hampshire, D., Jamil, A., Kurdi, A., Mubaidin, A., Mubaidin, M., Roberts, E., Shurbaji, A., Woods, C.G.   +9 more
core   +2 more sources

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

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia [PDF]

, 2016
Frataxin (FXN) deficiency causes Friedreich's ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms. FRDA pathophysiology combines developmental and degenerative processes of dorsal root ganglia (DRG), sensory nerves ...
Bolinches-Amorós, Arantxa, González-Cabo, Pilar, Mollá, Belén, Muñoz-Lasso, D.C., Palau Martínez, Francesc, Riveiro, F.   +5 more
core   +2 more sources

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

5-Hydroxytryptophan in Friedreich’s Ataxia

Pediatric Neurology Briefs, 1995
The effect of the levorotatory form of 5-hydroxytryptophan (approx 1 gm/day/orally) on cerebellar symptoms in 26 patients with Friedreich’s ataxia was evaluated in a double-blind drug-placebo study by the Ataxia Research Center, Hopital Neurologique ...
J Gordon Millichap
doaj   +1 more source

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

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