Results 131 to 140 of about 808 (154)

Transformative Potential of Induced Pluripotent Stem Cells in Congenital Heart Disease Research and Treatment. [PDF]

Children (Basel)
Mashali MA, Deschênes I, Saad NS.
europepmc   +1 more source

Cardiolipin and mitochondrial membrane integrity in neurodegeneration: insights from α-synuclein-driven Parkinson's disease. [PDF]

Acta Neuropathol Commun
Ruiz-Ortega ED, Wilkaniec A, Juárez J, Adamczyk A.   +3 more
europepmc   +1 more source

What Peroxisomes (Don't) do to Mitochondria. [PDF]

Contact (Thousand Oaks)
Bülow MH, Thoms S.
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Perturbations in mitochondrial metabolism associated with defective cardiolipin biosynthesis: An in-organello real-time NMR study. [PDF]

J Biol Chem
Rua AJ, Mitchell W, Claypool SM, Alder NN, Alexandrescu AT.   +4 more
europepmc   +1 more source

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Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

Blood, 2004
Barth syndrome (BTHS) is a rare X-linked disease characterized by a triad of dilated cardiomyopathy, skeletal myopathy, and neutropenia. The disease is associated with mutations of the TAZ gene, resulting in defective cardiolipin (CL), an important inner mitochondrial membrane component.
Kuijpers, Taco W., Maianski, Nikolai A., Tool, Anton T. J., Becker, Kolja, Plecko, Barbara, Valianpour, Fredoen, Wanders, Ron J. A., Pereira, Rob, van Hove, Johan, Verhoeven, Arthur J., Roos, Dirk, Baas, Frank, Barth, Peter G.   +12 more
openaire   +4 more sources

PP03.3 – 2376: A non-classical clinical course of Barth syndrome (BTHS)

European Journal of Paediatric Neurology, 2015
A non-classical clinical course of Barth Syndrome (BTHS) A six year-old boy, born to non-consanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth.
M. Fleger, M. Huemer, K. Schlachter, J. Mayr, W. Sperl, H. Prokisch, T. Haack, A. Bowron   +7 more
openaire   +1 more source

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

Genetics in Medicine, 2021
Brittany Decroes, Hilary J Vernon
exaly  

AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome

Circulation Research, 2020
Suya Wang, Yifei Li, Yang Xu
exaly  

Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets

Molecular and Cellular Biochemistry, 2021
Grant M Hatch
exaly  

Clinical presentation and natural history of Barth Syndrome: An overview

Journal of Inherited Metabolic Disease, 2022
Carolyn Taylor, Brittany Decroes, Hilary J Vernon   +2 more
exaly