Results 81 to 90 of about 663 (143)

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

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

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

DataSheet3_Re-Expression of Tafazzin Isoforms in TAZ-Deficient C6 Glioma Cells Restores Cardiolipin Composition but Not Proliferation Rate and Alterations in Gene Expression.pdf

, 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), Daniela Peter (13146513), Stefan Simm (277838), Michael Lalk (117041), Uwe Lendeckel (4405486), Gayatri Jagirdar (13146510), Mathias Krohn (443089), Christian Scharf (104359), Matthias Elsner (3507983), Karen Methling (510762), Katrin Borucki (229301), Carmen Wolke (13146516)   +11 more
core   +1 more source

Tafazzin catalyzes transacylation and hydrolysis with inverse acyl specificities

Journal of Lipid Research
Tafazzin is a phospholipid-lysophospholipid acyltransferase that remodels fatty acids of mitochondrial phospholipids. To study the tafazzin mechanism, we expressed and purified the enzyme, measured its kinetics with different pairs of phosphatidylcholine
Michael Schlame, Yang Xu, Mindong Ren, Julio Lopes Sampaio, Daniel Levy   +4 more
doaj   +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

DataSheet4_Re-Expression of Tafazzin Isoforms in TAZ-Deficient C6 Glioma Cells Restores Cardiolipin Composition but Not Proliferation Rate and Alterations in Gene Expression.pdf

, 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), Daniela Peter (13146513), Stefan Simm (277838), Michael Lalk (117041), Uwe Lendeckel (4405486), Gayatri Jagirdar (13146510), Mathias Krohn (443089), Christian Scharf (104359), Matthias Elsner (3507983), Karen Methling (510762), Katrin Borucki (229301), Carmen Wolke (13146516)   +11 more
core   +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

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

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