Results 61 to 70 of about 1,622,122 (202)

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

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

Barth Syndrome in Adulthood: A Clinical Case

Revista Española de Cardiología (English Edition), 2013
©2013. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the Accepted, version of a Published Work that appeared in final form in Revista Española de Cardiología.
García Molina, Esperanza, Escudero, Fuensanta, Ruiz Espejo, Francisco, Sabater Molina, María, Ballesta Martínez, María Juliana, Guillén Navarro, Encarna   +5 more
openaire   +2 more sources

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

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

The cellular and molecular mechanisms for neutropenia in Barth syndrome [PDF]

European Journal of Haematology, 2011
AbstractBarth syndrome (BTHS), a rare, X‐linked, recessive disease, is characterized by neutropenia and cardiomyopathy. BTHS is caused by loss‐of‐function mutations of the tafazzin (TAZ) gene. We developed a model of BTHS by transfecting human HL60 myeloid progenitor cells with TAZ‐specific shRNAs.
Makaryan, Vahagn, Kulik, Willem, Vaz, Frederic M., Allen, Christopher, Dror, Yigal, Dale, David C., Aprikyan, Andrew A.   +6 more
openaire   +3 more sources

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

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

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

Molecular Genetics and Metabolism Reports, 2020
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds   +8 more
doaj   +1 more source