Results 81 to 90 of about 6,899 (166)

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
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AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
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A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V   +5 more
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Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health

Frontiers in Physiology
Pyruvate dehydrogenase phosphatase (PDP), a structurally conserved member of the protein phosphatase C family (PP2C) of proteins, is a key regulatory enzyme responsible for reactivation of the mitochondrial gate-keeper, pyruvate dehydrogenase (PDH ...
Vikalp Kumar, Miriam L. Greenberg
doaj   +1 more source

Role of Cardiolipin in Mitochondrial Signaling Pathways

Frontiers in Cell and Developmental Biology, 2017
The phospholipid cardiolipin (CL) is an essential constituent of mitochondrial membranes and plays a role in many mitochondrial processes, including respiration and energy conversion.
Jan Dudek
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The B-lymphoblastoid model in Barth syndrome

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
Barth Syndrome (BTHS) is an ultra-rare, X-linked mitochondrial disorder caused by a variety of different mutations in the cardiolipin remodeling gene TAFAZZIN that results in cardiac and skeletal myopathy, as well as immunological deficits. Epstein-Barr virus-mediated transformation of B-lymphocytes has been used to generate B-lymphoblastoid cells that
John Z, Chan, Michelle V, Tomczewski, Antonia N, Berdeklis, Robin E, Duncan   +3 more
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Barth Syndrome [PDF]

, 2020
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Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
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Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy

Scientific Reports
Barth syndrome is an X-linked syndrome characterized by cardiomyopathy, skeletal myopathy, and neutropenia. This life-threatening disorder results from loss-of-function mutations in TAFAZZIN, which encodes a phospholipid-lysophospholipid transacylase ...
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh, Jillian V. Kodger, Akshay S. Patil, Morgan Staton, Anny Mulya, Genevieve M. Crane, Silvio Litovsky, Yana Sandlers, Seth J. Corey   +10 more
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Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome

Disease Models & Mechanisms, 2022
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells   +5 more
doaj   +1 more source