Results 31 to 40 of about 41,331 (231)

Barth syndrome

, 2011
Daniel Bell, Yuranga Weerakkody, Daniel Bell   +2 more
openalex   +2 more sources

Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome

JIMD Reports, 2022
Cardiomyopathy is the most common presenting feature of Barth syndrome, often presenting in infancy with severe heart failure and cardiac dysfunction. Historically, affected infants commonly died early after presentation, sometimes before a diagnosis of ...
Jessie Yester, Brian Feingold
doaj   +1 more source

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

Disease Models & Mechanisms
Erika Yazawa, Erin M. Keating, Suya Wang, Mason E. Sweat, Qing Ma, Yang Xu, Michael Schlame, William T. Pu   +7 more
doaj   +2 more sources

Barth syndrome cardiomyopathy [PDF]

Cardiovascular Research, 2017
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 biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Jan, Dudek, Christoph, Maack
openaire   +2 more sources

Assessing olfactory functions in patients with Barth syndrome. [PDF]

PLoS ONE, 2017
Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening.
Michele Dibattista, Simona Lobasso, Sebastiano Stramaglia, Angela Corcelli   +3 more
doaj   +1 more source

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. [PDF]

PLoS ONE, 2016
Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia.
Yana Sandlers, Kelly Mercier, Wimal Pathmasiri, Jim Carlson, Susan McRitchie, Susan Sumner, Hilary J Vernon   +6 more
doaj   +1 more source

Mechano‐energetic aspects of Barth syndrome [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractEnergy‐demanding organs like the heart are strongly dependent on oxidative phosphorylation in mitochondria. Oxidative phosphorylation is governed by the respiratory chain located in the inner mitochondrial membrane. The inner mitochondrial membrane is the only cellular membrane with significant amounts of the phospholipid cardiolipin, and ...
Dudek, Jan, Maack, Christoph
openaire   +3 more sources

Generation of a homozygous TAZ knockout hESCs line by CRISPR/Cas9 system

Stem Cell Research, 2022
Tafazzin (TAZ), a mitochondrial transacylase located on chromosome X, is required for the production of the mitochondrial phospholipid cardiolipin. Mutations occurring in the TAZ gene will lead to Barth syndrome, an X-linked recessive disease generally ...
Meng Zhou, Pufeng Huang, Rui Bai, Xujie Liu   +3 more
doaj   +1 more source

Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome

Disease Models & Mechanisms, 2022
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells   +5 more
doaj   +2 more sources

Quality of life in Barth syndrome. [PDF]

Ther Adv Rare Dis, 2022
Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population.
Kim AY, Vernon H, Manuel R, Almuqbil M, Hornby B.   +4 more
europepmc   +3 more sources