Results 91 to 100 of about 4,540 (202)

The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age‐Dependent Structural Deficits in the Kidney

Aging Cell, Volume 25, Issue 5, May 2026.
During kidney aging, loss of the MICOS complex drives cristae disorganization, impairs oxidative capacity, and alters mitochondrial dynamics. MICOS disruption elevates mitochondrial ROS and disrupts calcium homeostasis, linking mitochondrial structural remodeling to metabolic dysfunction in aging kidney tissue.
Prasanna Katti, Praveena Prasad, Sepiso K. Masenga, Prasanna Venkhatesh, Zer Vue, Andrea G. Marshall, Benjamin Rodriguez, Han Le, Edgar Garza‐Lopez, Alexandria Murphy, Brenita Jenkins, Ashlesha Kadam, Jianqiang Shao, Amber Crabtree, Pamela Martin, Chantell Evans, Mark A. Phillips, David Hubert, Nelson Wandira, Okwute M. Ochayi, Dhanendra Tomar, Clintoria R. Williams, Jennifer Gaddy, Briar Tomeau, LaCara Bell, Taneisha Gillyard, Markis' Hamilton, Vineeta Sharma, Mohd Mabood Khan, Elma Zaganjor, Olujimi A. Ajijola, Estevão Scudese, Tyne W. Miller Fleming, André Kinder, Chandravanu Dash, Anita M. Quintana, Bret C. Mobley, Julia D. Berry, Pooja Jadiya, Dao‐Fu Dai, Annet Kirabo, Oleg Kovtun, Jenny C. Schafer, Sean Schaffer, Renata Oliveira Pereira, Debra D. Murray, Joyonna Gamble‐George, Melanie R. McReynolds, Antentor Hinton Jr   +48 more
wiley   +1 more source

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Nature Communications, 2020
Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by ...
Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, Simone Brusco, Matteo Jacopo Marzi, Cecilia Palma, Gaia Colasante, Angelo Iannielli, Marianna Paulis, Chiara Cordiglieri, Serena Gea Giannelli, Paola Podini, Cinzia Gellera, Franco Taroni, Francesco Nicassio, Marco Rasponi, Vania Broccoli   +19 more
doaj   +1 more source

Depressive symptoms in Friedreich ataxia

International Journal of Clinical and Health Psychology, 2018
Background/Objective: Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim was to study the presence and the profile of depressive symptoms in FRDA and their relationship with demographic-disease variables and cognitive processing speed.
Nieto Barco, Antonieta, Hernández Torres, Atteneri, Pérez Flores, Javier, Montón, Fernando   +3 more
openaire   +3 more sources

Friedreich's ataxia—a rare multisystem disease

Friedreich's ataxia is a rare autosomal recessive neurodegenerative disease. Most patients have a homozygous GAA repeat expansion in the FXN gene, resulting in a deficiency of the mitochondrial protein frataxin.
Farmer, J, Lischewski, SA, Lynch, DR, Pandolfo, M, Konrad, K, Reetz, K, Schulz, JB, Corben, LA, Didszun, C, Dogan, I, Pishnamaz, M, Marx-Schütt, K   +11 more
core   +2 more sources

Iron Storage in Friedreich’s Ataxia

Pediatric Neurology Briefs, 1999
To test the hypothesis that iron is increased in the cerebellum of patients with Friedreich’s ataxia (FA), a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast was used in 12 patients and 23 ...
J Gordon Millichap
doaj   +1 more source

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues

, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
core  

Friedreich’s Ataxia with Retained Reflexes

Pediatric Neurology Briefs, 1995
Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, including cardiomyopathy, but retained reflexes (FARR), are reported from the University of Naples and C Besta Neurological Institute, Milan, Italy; and La ...
J Gordon Millichap
doaj   +1 more source

Evaluation of the Cases with Friedreich Ataxia

Gulhane Medical Journal, 2013
Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin which has an important role in iron homeostasis. Friedreich
Kurul S.H., Yiş U., Güzel A.I., Kasap H., Başak N., Dirik E.   +5 more
openaire   +3 more sources

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Disease Models & Mechanisms, 2012
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli, Marek Napierala, Hélène Puccio   +2 more
doaj   +1 more source

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy

, 2012
A 37-year-old man with advanced Friedreich's ataxia was referred to our emergency department with acute exacerbated abdominal pain of unclear aetiology.
Pirvu, Tatiana Nataly, Evangelopoulos, Dimitrios Stergios, Exadaktylos, Aristomenis, Kohl, Sandro   +3 more
core   +1 more source