Results 91 to 100 of about 2,620 (178)
Scientific ReportsBarth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo +4 more
doaj +1 more source
Age‐Associated Dysregulation of Postsynaptic Mitochondria Perturbs Reinnervation Kinetics
Aging Cell, Volume 25, Issue 1, January 2026.We show that aging results in postsynaptic mitochondrial loss at the neuromuscular junction and impaired muscle reinnervation. In vivo CRISPR knockout of mitochondrial genes, CHCHD10 and CHCHD2, in young muscles led to fragmented endplates, aberrant innervation, and impaired transcriptional maturation of sub‐synaptic myonuclei during regeneration ...
Steve D. Guzman +8 more
wiley +1 more source
Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth [PDF]
Molecular Microbiology, 2008 SummaryThe tafazzin (TAZ) gene is highly conserved from yeast to humans, and the yeast taz1 null mutant shows alterations in cardiolipin (CL) metabolism, mitochondrial dysfunction and stabilization of supercomplexes similar to those found in Barth syndrome, a human disorder resulting from loss of tafazzin.
Shuliang, Chen +2 more
openaire +2 more sources
Case Reports in Immunology, Volume 2026, Issue 1, 2026.Introduction The case report describes a novel finding of a homozygous variant in the coronin 1A (CORO1A) gene, associated with atypical severe combined immunodeficiency (SCID) in a 9‐year‐old female patient with recurrent infections and unique immunological features, including periodic T‐cell lymphocytosis and T‐ and B‐cell lymphopenia.
Alanoud Aljohani +6 more
wiley +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source
Frontiers in Genetics, 2016 Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (often dilated), skeletal muscle weakness, neutropenia, growth retardation and 3 ...
Ana eSaric +5 more
doaj +1 more source
Holding Out for a Model: Rhomboid Superfamily in Vertebrate Development and Disease
Journal of Cellular Physiology, Volume 240, Issue 9, September 2025.ABSTRACT The rhomboid superfamily, comprising both proteases and pseudoproteases, has emerged as a central regulator of membrane biology, mediating diverse functions including protein quality control, signal transduction, trafficking, and more. While molecular mechanisms of rhomboid activity have been well‐characterized in invertebrate and cell‐based ...
Saroj Gourkanti +7 more
wiley +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source
Ferroptosis in Pneumoconiosis: From Molecular and Cellular Mechanisms to Therapeutic Strategies
Med Research, Volume 1, Issue 2, Page 239-256, September 2025.Targeting lung various cells to alleviate pneumoconiosis by suppressing ferroptosis. AAV9‐HGF, adeno‐associated virus‐hepatocyte growth factor; DFP, deferiprone; DHQ, dihydroquercetin; Fer‐1, ferrostatin‐1; IL‐1β, interleukin‐1β; NMN, nicotinamide mononucleotide; sh‐SLC39A14, shRNA targeting solute carrier family 39 member 14; si‐OC‐STAMP, siRNA ...
Mengli Yan +4 more
wiley +1 more source
Mitochondria as Regulators of Nonapoptotic Cell Death in Cancer
MedComm, Volume 6, Issue 8, August 2025.Mitochondrial fission and fusion are key processes in maintaining cellular health. Fission is driven by proteins like, Fis‐1, which recruits DRP‐1, to facilitate the division of mitochondria. Fusion, however, is mediated by mitofusion 1(MFN1), mitofusion 2(MFN2), and optic atrophy 1 (OPA1), which work together to merge mitochondria, allowing functional
Saloni Malla +8 more
wiley +1 more source