Results 91 to 100 of about 7,513 (190)

Barth Symdrome

Based on primary data collected by Barth Syndrome Foundation (BSF) since 2014, the study aim to (1) Estimate the hazard of death by ages. We will use the dataset to analyze how the risk of death to Barth Syndrome varies by the patient’s age. (2) Explore
Kexin Fu, Alex Dahlen
core   +1 more source

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome

, 2009
Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature.
Bachou, Theodora, Kattamis, Antonis, Vazeou, Andriani, Giannakopoulos, Aris, Trapali, Christina   +4 more
core  

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
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28.
Valianpour, Fredoen, Vaz, Frédéric M., Wanders, Ronald J. A., Barth, Peter G., Lam, Jan, Duran, Marinus, Bowen, Valerie M.   +6 more
core   +1 more source

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
openaire   +2 more sources

Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth Syndrome

, 2009
The biogenesis of mitochondria requires the import of a large number of proteins from the cytosol [1, 2]. Although numerous studies have defined the proteinaceous machineries that mediate mitochondrial protein sorting, little is known about the role of ...
MR Wenk (11531095), C Meisinger (7709798), N Pfanner (13595188), P Rehling (13595179), Matthew McKenzie (13084017), MT Ryan (9716891), AS Joshi (15797597), N Wiedemann (13595182), ML Greenberg (15797606), XL Guan (15797600), T Becker (11552596), N Gebert (13595164), S Kutik (13595170), G Kulkarni (12148725), VP Mooga (15797603), DA Stroud (12570697)   +15 more
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A novel X-linked gene, G4.5. is responsible for Barth Syndrome

, 1996
Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. The disease has been mapped to a very gene-rich region in distal portion of Xq28.
Patrizia D'Adamo, Bione, S., Pieter A. Bolhuis, Silvia Bione, Daniela Toniolo, Elena Maestrini, Agi K. Gedeon, Maestrini, E., Gedeon, A., D'Adamo, P., Bolhuis, P., Toniolo, D.   +11 more
core   +1 more source

Barth Syndrome [PDF]

, 2020
openaire   +3 more sources

Cardiolipin in Barth Syndrome [PDF]

, 2017
Barth Syndrome (BTHS) is a rare genetic disorder caused by mutations in the gene that encodes tafazzin, a protein whose sole function is to remodel the mitochondrial phospholipid cardiolipin (CL). Despite comprising a small proportion of the body’s total
Ikon, Nikita
core