Results 11 to 20 of about 32,855 (128)

AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome

Human Gene Therapy, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that affects heart and skeletal muscle and has no curative treatment. It is caused by recessive mutations in the X-linked gene TAZ, which encodes tafazzin.
W Todd Cade, , Barry J Byrne
exaly   +2 more sources

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment

Journal of Cardiovascular Development and Disease, 2022
Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has ...
A. Bath, O. Akbilgic, David Wilbanks, J. Patel, Morgan Wallen, Shereen Haji, Arnab Das, J. Alexander, I. Pour-Ghaz, Deya A. Alkhatib, Yonglin Huang, Erik Lontok, J. Jefferies   +12 more
semanticscholar   +1 more source

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

Genetics in Medicine, 2020
To evaluate effectiveness of elamipretide in Barth syndrome (BTHS), a genetic condition of defects in TAZ, which causes abnormal cardiolipin on the inner mitochondrial membrane.
W. Reid Thompson, B. Hornby, Ryan Manuel, E. Bradley, Jan-Jakob Laux, Jim Carr, H. Vernon   +6 more
semanticscholar   +1 more source

Post-viral fatigue in COVID-19: A review of symptom assessment methods, mental, cognitive, and physical impairment

Neuroscience and Biobehavioral Reviews, 2022
Coronavirus 2 is responsible for Severe Acute Respiratory Syndrome-Coronavirus-2 (SARS-CoV-2), and the main sequela is persistent fatigue. Post-viral fatigue is common and affects patients with mild, asymptomatic coronavirus disease-2019 (COVID-19 ...
M. C. Campos, Tatyana Nery, A. C. Starke, Ana Cristina de Bem Alves, A. E. Speck, Aderbal S Aguiar   +5 more
semanticscholar   +1 more source

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome

Frontiers in Pediatrics, 2023
Background Barth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
N. Tovaglieri, S. Russo, E. Micaglio, A. Corcelli, S. Lobasso   +4 more
semanticscholar   +1 more source

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome

Orphanet Journal of Rare Diseases, 2022
Background Natural history studies are increasingly recognized as having an important role in drug development for rare diseases. A phase 3, observational, retrospective, and non-interventional study was designed to establish a natural history control ...
B. Hornby, W. R. Thompson, Mohammed A Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr, H. Vernon   +6 more
semanticscholar   +1 more source

Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome

Disease Models & Mechanisms, 2022
Cardiolipin (CL) is a phospholipid required for proper mitochondrial function. Tafazzin remodels CL to create highly unsaturated fatty acid chains. However, when TAFAZZIN is mutated, CL remodeling is impeded, leading to mitochondrial dysfunction and the ...
Deena Damschroder, R. Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, R. Houtkooper, R. Wessells   +5 more
semanticscholar   +1 more source

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.

Mutation research, 2022
Barth syndrome is a rare disease affecting mitochondria structure and function in males. In our previous study, we have shown a new mutation (c.83T>A, p.Val28Glu) in the TAZ gene in two affected patients with congenital cardiomyopathy. Furthermore, women
T. Płatek, M. Sordyl, A. Polus, A. Olszanecka, S. Kroczka, B. Solnica   +5 more
semanticscholar   +1 more source

A REVIEW OF NEGATIVE SYMPTOM ASSESSMENT STRATEGIES IN YOUTH AT CLINICAL HIGH-RISK FOR PSYCHOSIS

Schizophrenia Research, 2020
Studies attempting to deconstruct the heterogeneity of schizophrenia and the attenuated psychosis syndrome consistently find that negative symptoms are a core dimension that is distinct from other aspects of the illness (e.g., positive and disorganized ...
G. Strauss, Andrea Pelletier-Baldelli, Katherine Visser, E. Walker, V. Mittal   +4 more
semanticscholar   +1 more source

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Orphanet Journal of Rare Diseases, 2021
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
A. Searle, G. Herbert, L. Dabner, C. Steward, Michaela Damin, Guido E Pieles   +5 more
semanticscholar   +1 more source