Results 61 to 70 of about 1,103,157 (202)

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

open access: yesMolecular 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   +7 more
wiley   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

open access: yesEMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek   +13 more
doaj   +1 more source

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

open access: yesOrphanet 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.
Aidan Searle   +5 more
doaj   +1 more source

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

open access: yesProtein 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   +2 more
wiley   +1 more source

A Drosophila model of Barth syndrome [PDF]

open access: yesProceedings 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   +6 more
openaire   +2 more sources

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

open access: yesAnalyses 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   +3 more
wiley   +1 more source

Forming moral community: Christian and ecclesial existence in the theology of Karl Barth 1915-1922 [PDF]

open access: yes, 2008
This thesis is an investigation of Karl Barth's theology in the turbulent and dynamic years of his nascent career: 1915 - 1922, with a special focus on the manner in which he construed Christian and ecclesial existence.
O'Neil, Michael David
core  

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome

open access: yesFrontiers in Physiology, 2021
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is an important enzyme responsible for synthesizing biologically relevant cardiolipin (for heart and skeletal muscle, cardiolipin
Mario Elkes   +6 more
doaj   +1 more source

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

open access: yesEquine 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   +8 more
wiley   +1 more source

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

open access: yesDevelopmental 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   +10 more
wiley   +1 more source

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