Results 101 to 110 of about 669 (138)

Barth syndrome and the search for therapeutic approaches

Les maladies mitochondriales sont diverses, pléiotropes, graves et en grande partie sans traitement. Parmi elles, le syndrome de Barth (BTHS - Barth Syndrome) qui est une cardiomyopathie rare liée à l’X, est causée par des mutations dans le gène ...
Almyre, Claire
core  

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

Rescue of mitochondrial dysfunction through alteration of extracellular matrix composition in barth syndrome cardiac fibroblasts. [PDF]

Biomaterials
Piñeiro-Llanes J, Suzuki-Hatano S, Jain A, Venigalla S, Kamat M, Basso KB, Cade WT, Simmons CS, Pacak CA.   +8 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

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

Sensor-based digital health technologies to capture endpoints in recent clinical trials: a scoping review. [PDF]

NPJ Digit Med
Garcia J, Mordin MM, Banjara B, Saande C, Keyloun KR, Abel JL, Gnanasakthy A, Byrom B.   +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