Results 71 to 80 of about 507 (113)

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

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome. [PDF]

Diabetologia
Carlein C, Hoffmann MDA, Bickelmann C, Amaral AG, Lotfinia A, de Selliers LA, Audouze-Chaud J, Wrublewsky S, Lauterbach MA, von der Malsburg K, van der Laan M, Bozem M, Hoth M, Gilon P, Ravier MA, Morgan B, Ampofo E, Higuchi T, Bertero E, Dudek J, Maack C, Roma LP.   +21 more
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

Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health. [PDF]

Front Physiol
Kumar V, Greenberg ML.
europepmc   +1 more source

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]

Prenat Diagn
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc   +1 more source

Contemporary insights into elamipretide's mitochondrial mechanism of action and therapeutic effects. [PDF]

Biomed Pharmacother
Sabbah HN, Alder NN, Sparagna GC, Bruce JE, Stauffer BL, Chao LH, Pitceathly RDS, Maack C, Marcinek DJ.   +8 more
europepmc   +1 more source

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]

Int J Mol Sci
Raghav R, Awata J, Martin GL, Strathdee D, Blanton RM, Chin MT.   +5 more
europepmc   +1 more source