Results 41 to 50 of about 7,513 (190)

A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.

PLoS ONE, 2023
Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Kristin Richardson, Robert Wessells
doaj   +1 more source

Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome[S]

Journal of Lipid Research, 2013
Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To
Michael A. Kiebish, Kui Yang, Xinping Liu, David J. Mancuso, Shaoping Guan, Zhongdan Zhao, Harold F. Sims, Rebekah Cerqua, W. Todd Cade, Xianlin Han, Richard W. Gross   +10 more
doaj   +1 more source

Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia

Cell Reports, 2018
Summary: Mitochondria fulfill vital metabolic functions and act as crucial cellular signaling hubs, integrating their metabolic status into the cellular context.
Arpita Chowdhury, Abhishek Aich, Gaurav Jain, Katharina Wozny, Christian Lüchtenborg, Magnus Hartmann, Olaf Bernhard, Martina Balleiniger, Ezzaldin Ahmed Alfar, Anke Zieseniss, Karl Toischer, Kaomei Guan, Silvio O. Rizzoli, Britta Brügger, Andrè Fischer, Dörthe M. Katschinski, Peter Rehling, Jan Dudek   +17 more
doaj   +1 more source

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

Orphanet Journal of Rare Diseases, 2021
Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently ...
Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields   +6 more
doaj   +1 more source

Barth Syndrome Is Associated with a Cognitive Phenotype [PDF]

Journal of Developmental & Behavioral Pediatrics, 2007
Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype.The present study was designed
Michèle M M, Mazzocco, Anne E, Henry, Richard I, Kelly   +2 more
openaire   +2 more sources

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy [PDF]

Lipids, 2017
AbstractThe Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid‐uria, skeletal muscle weakness and cardiomyopathy.
Nikita, Ikon, Robert O, Ryan
openaire   +2 more sources

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.

Frontiers in Physiology, 2013
The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers, Yan eHuang, Arnold W Strauss, Zaza eKhuchua   +3 more
doaj   +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

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

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