Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.

doi:10.1007/s11010-020-04021-0

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Article

Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.

Molecular and cellular biochemistry - 1 Mar 2021

Zegallai Hana M, Hatch Grant M

Abstract excerpt

Barth syndrome is a rare X-linked genetic disease classically characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and 3-methylglutaconic aciduria. It is caused by mutations in the tafazzin gene localized to chromosome Xq28.12. Mutations in tafazzin may result in alterations in the level and molecular composition of the mitochondrial phospholipid cardiolipin and result in large...

Topics

Acyltransferases
Animals
Antioxidants
Barth Syndrome
Cardiolipins
Cardiomyopathies
Cholesterol
Cognition
HEK293 Cells
Humans
Lysophospholipids
Mitochondria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Muscular Diseases

Mutation

Myocardium

Neutropenia

Oxidative Phosphorylation

Source

Open in PubMed

Identifiers

PMID: 33415565
DOI: 10.1007/s11010-020-04021-0

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