Animal and Cellular Models of Barth Syndrome
Animal and Cellular Models of Barth Syndrome : Research
There are several models of Barth syndrome, each of which has its own unique characteristics. All models show a cardiolipin dysfunction.
Experimental models of Barth syndrome - PubMed
Mutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X-linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia.
Experimental Models of Barth Syndrome - PMC - NCBI
Mutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X-linked disorder characterized by cardiomyopathy, skeletal muscle weakness, ...
Barth Syndrome: From Mitochondrial Dysfunctions Associated with ...
It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized ...
Barth syndrome: Cellular compensation of mitochondrial dysfunction ...
Indeed, the lack of normal cardiolipin led to changes in electron transport chain stability, resulting in cellular defects. We found a destabilization of the ...
Barth Syndrome Foundation Research
How We Advance Research & Development · ResearchID, Patient Registry & Biorepository · Diagnostic Technologies & Human Variants Database · Cellular & Animal Models.
Current and future treatment approaches for Barth syndrome
Barth Syndrome is an X-linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic ...
Barth syndrome cardiomyopathy - Oxford Academic
A large number of cellular and animal models for BTHS have been established to elucidate how mitochondrial dysfunction induces sarcomere disorganization and ...
Gene therapy reverses Barth syndrome in mice
But to fully capture Barth syndrome and its whole-body effects, Pu and colleagues needed an animal model. “The animal model was a hurdle in the ...
Barth Syndrome - Society for Developmental Biology
A tafazzin-deficient Drosophila model of Barth syndrome that is characterized by low cardiolipin (CL) concentration, abnormal cardiolipin fatty ...
Gene therapy for Barth syndrome | Harvard Stem Cell Institute (HSCI)
In the new study, Pu and his colleagues developed an animal model of Barth syndrome to fully capture the disease and its whole-body effects. “ ...
Barth Syndrome: Exploring Cardiac Metabolism with Induced ... - MDPI
Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations in the TAZ gene (TAZ, G 4.5, OMIM 300394) that ...
Barth syndrome cellular models have dysregulated respiratory chain ...
Barth syndrome (BTHS) is an X-linked genetic condition caused by defects in TAZ, which encodes a transacylase involved in the remodeling of the inner ...
Gene therapy reverses heart failure in mouse model of Barth ...
Barth syndrome is a rare genetic disease in boys that can cause life-threatening heart failure and also weakens the skeletal muscles and the ...
Barth syndrome cardiomyopathy: targeting the mitochondria with ...
Similar abnormalities of mitochondrial morphology have been reported in many tafazzin-deficient cell and animal models [1]. Cardiolipin ...
A Drosophila model of Barth syndrome - PNAS
Thus, tafazzin mutations in Drosophila generated a Barth-related phenotype, with the triad of abnormal cardiolipin, pathologic mitochondria, and motor weakness, ...
Cardiolipin remodeling in Barth syndrome and other hereditary ...
Nevertheless, several approaches have been tested in animal models of BTHS. Taz deletion in Drosophila causes a change in the CL pool which resembles the one ...
Barth Syndrome Cardiomyopathy: An Update - MDPI
Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase ...
Stem cell models of TAFAZZIN deficiency reveal novel tissue ...
Barth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin ( ...
Barth syndrome, a human disorder of cardiolipin metabolism
Genet. 2016. TLDR. Recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular ...