Results 81 to 90 of about 7,513 (190)
Barth syndrome, a human disorder of cardiolipin metabolism
, 2006 Barth syndrome is an X-linked recessive disease caused by mutations in the tafazzin gene. Patients have reduced concentration and altered composition of cardiolipin, the specific mitochondrial phospholipid, and they have variable clinical findings, often
Ren, Mindong +3 more
core +1 more source
Vector‐borne diseases‐knowledge maps
EFSA Journal, Volume 24, Issue 5, May 2026.Abstract This scientific report provides a structured overview of the main characteristics of 25 selected vector‐borne diseases (VBDs) of potential relevance for the EU, including 12 diseases listed under the Animal Health Law (AHL) and 13 non‐listed diseases.
European Food Safety Authority (EFSA) +7 more
wiley +1 more source
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies [PDF]
, 2015 Studying monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combine patient-derived and genetically engineered iPSCs with tissue engineering to elucidate the pathophysiology ...
Li, Kai +27 more
core +1 more source
Barth syndrome : a mutational analysis of the BTHS gene
, 1999 Barth syndrome is an X-linked recessive disorder affecting only males. The clinical features of Barth syndrome include cardiomyopathy, endocardial fibroelastosis, neutropenia, hypocholesterolemia, growth retardation, short stature and cyclic acidurias ...
Elliot, Ann M.
core +1 more source
Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health
Frontiers in PhysiologyPyruvate dehydrogenase phosphatase (PDP), a structurally conserved member of the protein phosphatase C family (PP2C) of proteins, is a key regulatory enzyme responsible for reactivation of the mitochondrial gate-keeper, pyruvate dehydrogenase (PDH ...
Vikalp Kumar, Miriam L. Greenberg
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2019 Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano +6 more
doaj +1 more source
Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients
, 2006 Mutations in the human TAZ gene are associated with Barth Syndrome, an often fatal X-linked disorder that presents with cardiomyopathy and neutropenia.
DR Thorburn (14471730) +3 more
core
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
, 1999 X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3-methylglutaconic acid-uria type II, endocardial fibroelastosis type 2) has been reported in patients and families from Europe, North America
Barth, P. G. +5 more
core +1 more source
Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome [PDF]
, 2005 Barth syndrome is an X-linked disorder characterized by dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, abnormal mitochondria, and growth deficiency.
E.P. Gerstenfeld +17 more
core +1 more source
Balkan Journal of Medical Genetics, 2016 Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M +5 more
doaj +1 more source