Barth Syndrome is a rare X‐linked disorder caused by pathogenic variants in the gene
TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a …

Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS).
Individuals with this X-linked multisystem disorder present cardiomyopathy (CM)(often …

Purpose Evaluate long-term efficacy and safety of elamipretide during the open-label
extension (OLE) of the TAZPOWER trial in individuals with Barth syndrome (BTHS). Methods …

Barth syndrome (BTHS) patients carrying mutations in tafazzin (TAZ1), which is involved in
the final maturation of cardiolipin, present with dilated cardiomyopathy, skeletal myopathy …

Tafazzin (TAZ) is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a
mitochondrial phospholipid required for oxidative phosphorylation. Mutations of TAZ cause …

Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS)
is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase …

Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial
roles in cardiac development and disease. Here, we combined patient-derived and …

Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations
in the TAZ gene (TAZ, G 4.5, OMIM 300394) that encodes for the acyltransferase tafazzin …

Background Barth syndrome is a rare, multisystem disorder caused by mutations in tafazzin
that lead to cardiolipin deficiency and mitochondrial abnormalities. Patients most commonly …

Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within
the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the …