Results 81 to 90 of about 808 (154)
Journal of Inborn Errors of Metabolism and Screening, 2015 Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD +6 more
doaj +1 more source
A novel "TAZ" gene mutation and mosaicism in a Polish family with Barth syndrome [PDF]
, 2015 Barth syndrome (BTHS) is an X‐linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3‐methylglutaconic aciduria, growth ...
Płatek, Teresa +2 more
core +2 more sources
Functional and morphological adaptations in tafazzin-deficient pancreatic islets in the context of Barth syndrome [PDF]
Das Barth Syndrom (BTHS) ist eine X-chromosomale Multisystem Erkrankung, die durch Mutationen in dem Gen verursacht wird, das für das mitochondriale Enzym Tafazzin (Taz) kodiert.
Carlein, Christopher
core +1 more source
Evaluating and targeting mitochondrial dynamics and plasticity in conditions of mitochondrial dysfunction [PDF]
, 2022 Mitochondria represent dynamic structures which undergo various changes in morphology in order to rapidly respond to changes in cellular physiology. Changes in mitochondrial dynamics are observed in various pathological events and represent a potential ...
Bagshaw, Olivia Rita Marie
core +1 more source
Orphanet Journal of Rare Diseases, 2019 Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles,
Iyar Mazar +7 more
doaj +1 more source
Novel insights into mitochondrial phospholipid homeostasis in a disease-relevant yeast model [PDF]
, 2019 The proper function of mitochondria critically depends on their membrane lipid composition. To ensure lipid homeostasis, de novo synthesis, intracellular and intraorganellar transport, remodeling, and degradation of lipids must be tightly regulated.
Antunes, Diana Sofia Ribeiro Duarte
core +1 more source
COmplexome Profiling ALignment (COPAL) reveals remodeling of mitochondrial protein complexes in Barth syndrome [PDF]
, 2019 Item does not contain fulltextMOTIVATION: Complexome profiling combines native gel electrophoresis with mass spectrometry to obtain the inventory, composition and abundance of multiprotein assemblies in an organelle.
Brandt, U. +5 more
core +1 more source
Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome
Orphanet Journal of Rare Diseases, 2019 Background Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy.
Brittany Hornby +5 more
doaj +1 more source
Barth syndrome (BTHS) – report case [PDF]
Child Neurology, 2015 Joanna Pelc +2 more
openaire +1 more source
Cardiolipin, Mitochondria, and Neurological Disease [PDF]
, 2021 Over the past decade, it has become clear that lipid homeostasis is central to cellular metabolism. Lipids are particularly abundant in the central nervous system (CNS) where they modulate membrane fluidity, electric signal transduction, and synaptic ...
Claypool, SM +4 more
core