Results 51 to 60 of about 9,290 (208)

Drug Repositioning in Friedreich Ataxia

Frontiers in Neuroscience, 2022
Friedreich ataxia is a rare neurodegenerative disorder caused by insufficient levels of the essential mitochondrial protein frataxin. It is a severely debilitating disease that significantly impacts the quality of life of affected patients and reduces ...
Alessandra Rufini, Alessandra Rufini, Alessandra Rufini, Florence Malisan, Ivano Condò, Roberto Testi, Roberto Testi   +6 more
doaj   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

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

Mitochondrial Iron-Sulfur Cluster Dysfunction In Neurodegenerative Disease

Frontiers in Pharmacology, 2014
Growing evidence supports a role for mitochondrial iron metabolism in the pathophysiology of neurodegenerative disorders such as Friedreich ataxia and Parkinson disease as well as in the motor and cognitive decline associated with the aging process. Iron-
Grazia eIsaya
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

Genetics of Friedreich Ataxia

Pediatric Neurology Briefs, 1997
Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre ...
J Gordon Millichap
doaj   +1 more source

Ataxia due to vitamin E deficiency: A case report and updated review

Clinical Case Reports, 2022
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal‐recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory ...
Sangharsha Thapa, Sangam Shah, Swati Chand, Sanjit Kumar Sah, Pawan Gyawali, Sandip Paudel, Pitambar Khanal   +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

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Pharmacokinetics and pharmacodynamics of the novel Nrf2 activator omaveloxolone in primates

Drug Design, Development and Therapy, 2019
Scott A Reisman, Sarabjit S Gahir, Chun-Yue I Lee, Joel W Proksch, Mitsumasa Sakamoto, Keith W Ward Reata Pharmaceuticals, Inc., Irving, TX 75063, USA Background: Omaveloxolone is a synthetic oleanane triterpenoid that pharmacologically activates Nrf2,
Reisman SA, Gahir SS, Lee CY, Proksch JW, Sakamoto M, Ward KW   +5 more
doaj