[HTML][HTML] Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

J Van den Eynde, B Chinni, H Vernon… - Orphanet journal of rare …, 2023 - Springer
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by
cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads …

Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes

Q He - American Journal of Physiology-Heart and …, 2010 - journals.physiology.org
Mutation of the mitochondrial protein tafazzin causes dilated cardiomyopathy in Barth
syndrome. We employed an adenovirus as a vector to transfer tafazzin small hairpin RNA …

[HTML][HTML] Increased ROS-mediated CaMKII activation contributes to calcium handling abnormalities and impaired contraction in Barth syndrome

X Liu, S Wang, X Guo, Y Li, R Ogurlu, F Lu… - Circulation, 2021 - ncbi.nlm.nih.gov
Background: Mutations in tafazzin (TAZ), a gene required for biogenesis of cardiolipin, the
signature phospholipid of the inner mitochondrial membrane, causes Barth syndrome …

Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome

JM Johnson, PJ Ferrara, ARP Verkerke… - Journal of molecular and …, 2018 - Elsevier
Barth Syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy
and muscle weakness. The underlying cause of BTHS is a mutation in the tafazzin (TAZ) …

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

MK Koenig, SN Russo, KL McBride… - JIMD …, 2023 - Wiley Online Library
Several mitochondrial diseases are caused by pathogenic variants that impair membrane
phospholipid remodeling, with no FDA‐approved therapies. Elamipretide targets the inner …

Tafazzin knockdown interrupts cell cycle progression in cultured neonatal ventricular fibroblasts

Q He, M Wang, N Harris, X Han - American Journal of …, 2013 - journals.physiology.org
Mutation of the mitochondrial protein tafazzin causes dilated cardiomyopathy in Barth
syndrome. Previous studies have shown that tafazzin knockdown promotes hypertrophy of …

AAV gene therapy prevents and reverses heart failure in a murine knockout model of Barth syndrome

S Wang, Y Li, Y Xu, Q Ma, Z Lin, M Schlame… - Circulation …, 2020 - Am Heart Assoc
Rationale: Barth syndrome is an X-linked cardiac and skeletal myopathy caused by mutation
of the gene Tafazzin (TAZ). Currently, there is no targeted treatment for Barth syndrome …

Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome

A Malhotra, P Kahlon, T Donoho… - Recent patents on …, 2014 - ingentaconnect.com
Barth syndrome (BTHS) is a genetic, X-linked, rare but often fatal, pediatric skeletal-and
cardiomyopathy occurring due to mutations in the tafazzin gene (TAZ). TAZ encodes a …

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome

J Zhang, X Liu, J Nie, Y Shi - Autophagy, 2022 - Taylor & Francis
Barth syndrome (BTHS) is an X-linked genetic disorder caused by mutations in the
TAFAZZIN/Taz gene which encodes a transacylase required for cardiolipin remodeling …

A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling

Y Xu, CKL Phoon, M Ren… - Journal of Inherited …, 2022 - Wiley Online Library
Barth syndrome is a multisystem disorder caused by an abnormal metabolism of the
mitochondrial lipid cardiolipin. In this review, we discuss physical properties, biosynthesis …