Results 111 to 120 of about 808 (154)

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

ECG Findings Are Poor Predictors for Adverse Events and Cardiac Death in Barth Syndrome. [PDF]

Prog Pediatr Cardiol
Hutchinson A, Taylor CL, Chowdhury SM, Jackson L.   +3 more
europepmc   +1 more source

atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its found mutation in Iraqi Jews, ” Am J Hum Genet 2001; 69(6): 1218-1224. [PDF]

Arbelaez A, Broide E, Castillo M, Elpeleg O   +3 more
core  

Mitochondrial cristae remodeling: Mechanisms, functions, and pathology. [PDF]

Cell Insight
Yu J, Luo Y, Lin J, Li Z, Fang Z, He H, Yan C, Song Z.   +7 more
europepmc   +1 more source

Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts. [PDF]

J Transl Genet Genom
Mejia EM, Sparagna GC, Miller DW, Hatch GM.   +3 more
europepmc   +1 more source