Results 41 to 50 of about 1,298,581 (123)

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

Frontiers 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, Martin Andonovski, Daislyn Vidal, Madison Farago, Ryan Modafferi, Steven M. Claypool, Paul J. LeBlanc   +6 more
doaj   +1 more source

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Stem Cell Research
Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic stem cell (hESC) model of Barth syndrome (TAFAZZINΔ3 C15) in a female background (H9 hESC) using CRISPR/Cas9 gene editing ...
Yau Chung Low, Cameron L. McKnight, David A. Elliott, David R. Thorburn, Ann E. Frazier   +4 more
doaj   +1 more source

Sex and Gender Differences in Physical Activity, Sedentary Behavior, and Sleep During Traumatic Brain Injury Recovery: A Narrative Review

European Journal of Sport Science, Volume 26, Issue 9, September 2026.
ABSTRACT Traumatic brain injury (TBI) is a complex neurological condition with enduring consequences that extend well beyond the initial insult. Once regarded primarily as an acute event, TBI is now increasingly recognized as a chronic disorder associated with cognitive, emotional, and physical impairments.
Goretti España‐Irla, Madeleine Perko, Emma M. Tinney, Mark C. Nwakamma, Martina Anto‐Ocrah, Timothy P. Morris   +5 more
wiley   +1 more source

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

The “GABAergic Brake” on the Spinal Defecation Reflex: A Proposed Neurobiological Model Explaining Clozapine‐ and Benzodiazepine‐Induced Gastrointestinal Hypomotility and Ogilvie's Syndrome

Neuropsychopharmacology Reports, Volume 46, Issue 3, September 2026.
Synergistic “Double Brake” Model on the Spinal Defecation Center in Clozapine‐Induced Constipation. Real‐world data shows BZDRs increase laxative risk in schizophrenia. Mitigating the central GABAergic brake via sedative optimization and maintaining gut microbiota homeostasis prevents fatal Ogilvie's syndrome.
Takahiko Nagamine
wiley   +1 more source

Negotiating in a Foreign Land: Understanding the Curious Interactions Between Intracellular Mitochondria and Internalized Nanoparticles

Advanced Materials Interfaces, Volume 13, Issue 16, 18 August 2026.
Therapeutic nano‐drug delivery systems interact with cellular mitochondria in a multitude of ways. While the complexity of such interactions disrupts the mitochondrial electron transport chain and increases reactive oxygen species production, thereby contributing to nanoparticle toxicity, they also present unique theranostic opportunities in diseases ...
Sourav Bhattacharjee
wiley   +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

sj-pdf-1-trd-10.1177_26330040221093743 – Supplemental material for Quality of life in Barth syndrome

, 2022
Supplemental material, sj-pdf-1-trd-10.1177_26330040221093743 for Quality of life in Barth syndrome by Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil and Brittany Hornby in Therapeutic Advances in Rare ...
Alexander Y. Kim (4408057), Hilary Vernon (688877), Ryan Manuel (12861518), Brittany Hornby (12861521), Mohammed Almuqbil (10792740)   +4 more
core   +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

sj-docx-1-trd-10.1177_26330040221093743 – Supplemental material for Quality of life in Barth syndrome

, 2022
Supplemental material, sj-docx-1-trd-10.1177_26330040221093743 for Quality of life in Barth syndrome by Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil and Brittany Hornby in Therapeutic Advances in Rare ...
Alexander Y. Kim (4408057), Hilary Vernon (688877), Ryan Manuel (12861518), Brittany Hornby (12861521), Mohammed Almuqbil (10792740)   +4 more
core   +1 more source