Results 81 to 90 of about 2,315 (156)

Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins [PDF]

The Journal of Cell Biology, 2006
None of the 28 identified point mutations in tafazzin (Taz1p), which is the mutant gene product associated with Barth syndrome (BTHS), has a biochemical explanation. In this study, endogenous Taz1p was localized to mitochondria in association with both the inner and outer mitochondrial membranes facing the intermembrane space (IMS). Unexpectedly, Taz1p
Claypool, Steven M, McCaffery, J Michael, Koehler, Carla M   +2 more
openaire   +4 more sources

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

Immunometabolic and Spatiotemporal Control of Tissue‐Resident Memory T Cell Biology

Barrier Immunity, Volume 2, Issue 1, Page 6-22, March 2026.
Tissue‐resident memory T (TRM) cells in barrier tissues provide a frontline defense against invading pathogens. Immune (Signals 1–3) and nutrient (Signal 4) cues play an integral role in directing TRM formation and heterogeneity. The spatial and temporal organization of these signals establishes durable TRM cells across tissues, enabling diverse ...
Jana L. Raynor, Hongbo Chi
wiley   +1 more source

Deficiency in Cardiolipin Reduces Doxorubicin-Induced Oxidative Stress and Mitochondrial Damage in Human B-Lymphocytes. [PDF]

PLoS ONE, 2016
Cardiolipin (CL) is an inner mitochondrial membrane phospholipid which plays an important role in mitochondrial function. Perturbation in CL biosynthesis alters mitochondrial bioenergetics causing a severe genetic disorder commonly known as Barth ...
Baikuntha Aryal, V Ashutosh Rao
doaj   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, Volume 13, Issue 11, 23 February 2026.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome

Scientific Reports
Barth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo, Domenico De Rasmo, Roberta Rossi, Anna Signorile, Simona Lobasso   +4 more
doaj   +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, Quan, He, Miriam L, Greenberg   +2 more
openaire   +2 more sources

Aim24 and MICOS modulate respiratory function, tafazzin-related cardiolipin modification and mitochondrial architecture

eLife, 2014
Structure and function of mitochondria are intimately linked. In a search for components that participate in building the elaborate architecture of this complex organelle we have identified Aim24, an inner membrane protein. Aim24 interacts with the MICOS
Max Emanuel Harner, Ann-Katrin Unger, Toshiaki Izawa, Dirk M Walther, Cagakan Özbalci, Stefan Geimer, Fulvio Reggiori, Britta Brügger, Matthias Mann, Benedikt Westermann, Walter Neupert   +10 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, Paula M. Fraczek, Klimentini Itsani, Esraa K. Furati, Devin Juros, Grace Kenney, Gregorio Valdez, Joe V. Chakkalakal, Carlos A. Aguilar   +8 more
wiley   +1 more source

Barth Syndrome:From mitochondrial dysfunctions associated with aberrant production of reactive oxygen species to pluripotent stem cell studies

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, Ana eSaric, Karine eAndreau, Anne-Sophie eArmand, Ian Max Möller, Patrice X. PETIT   +5 more
doaj   +1 more source