Results 101 to 110 of about 817 (152)

The Effect of PPARβ/δ Activation on Soleus Contractile and Metabolic Function in the Rodent Model of Barth Syndrome [PDF]

Barth syndrome is a rare and incurable X-linked genetic disease that impairs the production of tafazzin (Taz) protein. Taz catalyzes the transacylation reaction of monolysocardiolipin (MLCL) in the final step of cardiolipin (CL) remodeling to produce ...
Andonovski, Martin
core   +1 more source

A novel <i>TAFAZZIN</i> gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report. [PDF]

Front Pediatr
Krawiec M, Śliwka J, Pawlak S, Kapałka M, Hamerling P, Grzywacz W, Hawel W, Skórska G, Piekutowska-Abramczuk D, Hrapkowicz T.   +9 more
europepmc   +1 more source

Cardiolipin metabolism in Barth syndrome [PDF]

, 2009
Houtkooper, R.H.L.
core   +2 more sources

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models. [PDF]

EMBO Mol Med
Passadouro AS, Balfoort BM, Langeveld M, van Karnebeek CDM, van der Velden J, Houtkooper RH, Mosegaard S.   +6 more
europepmc   +1 more source

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome [PDF]

, 2007
C. G. Steward, F. M. Vaz, F. S. Stet, H. Kemp, H. van Lenthe, J. E. Stone, R. H. Houtkooper, R. J. Wanders, W. Kulik   +8 more
core   +1 more source

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome. [PDF]

Stem Cell Rev Rep
Sierra Potchanant EA, Capitano ML, Edwards DM, Ramdas B, Cooper S, Ropa J, Pay SL, Sheth A, Snider PL, Vernon HJ, Tran NT, Kapur R, Conway SJ.   +12 more
europepmc   +1 more source

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report. [PDF]

Eur Heart J Case Rep
Ortmann L, Velasco D, Cole J.
europepmc   +1 more source

Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

What can ATP content tell us about Barth syndrome muscle phenotypes? [PDF]

J Transl Genet Genom
Brault JJ, Conway SJ.
europepmc   +1 more source

Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy. [PDF]

Sci Rep
Oyarbide U, Anderson RA, Radzikh I, Kodger JV, Patil AS, Staton M, Mulya A, Crane GM, Litovsky S, Sandlers Y, Corey SJ.   +10 more
europepmc   +1 more source