Results 61 to 70 of about 6,899 (166)

A Drosophila model of Barth syndrome [PDF]

Proceedings of the National Academy of Sciences, 2006
Barth syndrome is an X-linked disease presenting with cardiomyopathy and skeletal muscle weakness. It is caused by mutations in tafazzin, a putative acyl transferase that has been associated with altered metabolism of the mitochondrial phospholipid cardiolipin. To investigate the molecular basis of Barth syndrome, we created
Yang, Xu, Morgan, Condell, Heide, Plesken, Irit, Edelman-Novemsky, Jinping, Ma, Mindong, Ren, Michael, Schlame   +6 more
openaire   +2 more sources

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

Orphanet Journal of Rare Diseases, 2023
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 more
doaj   +1 more source

Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
This report expands the limited available data on type VIII 3‐methylglutaconic aciduria (MGCA8), a neurodegenerative disorder which involves biallelic pathogenic variants of HTRA2 gene. The mutation of this gene leads to mitochondrial dysfunction and altered apoptosis regulation, especially in the brain.
Barbara Belmessieri, Sara Brunetti, Laura Malerba, Paola Martelli, Lucio Giordano, Massimo Plumari, Edoardo Errichiello, Patrizia Accorsi   +7 more
wiley   +1 more source

Mitochondrial membrane remodeling in stress adaptation: Lipid control of organelle quality

Protein Science, Volume 35, Issue 8, August 2026.
Abstract Mitochondria respond to proteotoxic stress through the mitochondrial unfolded protein response, traditionally viewed as a transcriptional program that restores proteostasis by inducing chaperones and proteases. Emerging evidence indicates that mitochondrial membrane remodeling constitutes an additional adaptive component of this response ...
Lena J. Reichert, F.‐Nora Vögtle, Carlotta Peselj   +2 more
wiley   +1 more source

“Feeling out of place”: A mixed methods investigation of the impostor phenomenon among BIPOC and LGBTQ STEM college students

Analyses of Social Issues and Public Policy, Volume 26, Issue 2, August 2026.
Abstract This mixed‐methods study examines the experience of the impostor phenomenon in a racially/ethnically and sexually diverse sample of undergraduates in majors related to science, technology, engineering, and math (STEM). Guided by an intersectionality framework, we examined whether experiences of the impostor phenomenon differ at the ...
Richard Chang, Diana R. Beltran, Gloria Wong‐Padoongpatt, Rachael D. Robnett   +3 more
wiley   +1 more source

X Chromosome Inactivation in Carriers of Barth Syndrome [PDF]

The American Journal of Human Genetics, 1998
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found.
Orstavik, K.H., Orstavik, R.E., Naumova, A.K., D'Adamo, P., Gedeon, A., Bolhuis, P.A., Barth, P.G., Toniolo, D.   +7 more
openaire   +3 more sources

Long‐term outcomes of gastric bypass surgery in two Lusitano foals: Contemporary evidence for surgical decision‐making

Equine Veterinary Education, Volume 38, Issue 8, Page e509-e515, August 2026.
Summary Gastric outflow obstruction (GOO) occasionally requires surgical intervention in foals when medical management fails. Current literature lacks consensus on several surgical decisions, with most comprehensive reports dating back over a decade. Critical aspects—including jejunal loop orientation and necessity of jejunojejunostomy—remain debated ...
P. Fernández Hernández, M. Valero González, F. Bulnes Jiménez, N. Venegas Chávez, B. Fuentes Romero, M. Iglesias García, J. Jiménez Fragoso, M. Martín Cuervo, L. J. Ezquerra Calvo   +8 more
wiley   +1 more source

Zika Virus Inoculation During Pregnancy Impaired Maternal Care and Altered Prolactin and Corticosterone Levels in Rats

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Zika virus (ZIKV) is an Orthoflavivirus known for its teratogenicity and for causing congenital Zika syndrome (CZS) in the offspring, but recent studies suggest a negative impact on maternal brain health and behavior following gestational ZIKV inoculation.
Meirylanne Gomes‐da‐Costa, Adriana Souza dos Santos, Anna Luísa Lothhammer Bohn, Bruna Carolina de Castro Saturnino, Gabrielle Batista de Aguiar, Gabriela Barth Jacobs, Chris Krebs Danilevicz, Ana Paula Muterle Varela, Thais Fumaco Teixeira, Paulo Michel Roehe, Lenir Orlandi Pereira   +10 more
wiley   +1 more source

Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation. [PDF]

PLoS ONE, 2012
Cardiolipin (CL) is a mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes involved in the generation of ATP.
William A Taylor, Edgard M Mejia, Ryan W Mitchell, Patrick C Choy, Genevieve C Sparagna, Grant M Hatch   +5 more
doaj   +1 more source

Effectiveness of a Low‐Intensity Self‐Guided Psychoeducational Intervention for Individuals Waitlisted for Specialised Eating‐Disorder Treatment: A Randomised Controlled Trial

European Eating Disorders Review, Volume 34, Issue 4, Page 1089-1098, July 2026.
ABSTRACT Objective Gaining access to evidence‐informed treatment for eating disorders (EDs) is challenging, and this creates interest in the possible benefits of self‐help treatment methods. We investigated the effectiveness of receiving evidence‐informed self‐guided psychoeducation, delivered to individuals while on a waitlist for specialised ED care.
Linda Booij, Barbara Barth, Micaël Thériault, Bronwyn Raykos, Peter McEvoy, Howard Steiger   +5 more
wiley   +1 more source