Results 121 to 130 of about 1,218,373 (138)

Therapeutic Potential of Mitochondrial Transplantation with Focus on DBD. [PDF]

Int J Mol Sci
Guo C, Gu C, Chen A, Li S, Shen S, Tang Z, Gui J, Zhu L, Wu S, Mi Y.   +9 more
europepmc   +1 more source

Proteolytic regulation of mitochondrial magnesium channel by m-AAA protease and prohibitin complex. [PDF]

Genetics
Joshi A, Stanfield RA, Spletter AT, Gohil VM.   +3 more
europepmc   +1 more source

What are the symptoms and concerns of young adults living with life-limiting conditions and how well are they captured by patient reported outcome measures? A mixed-methods systematic review and framework synthesis. [PDF]

Palliat Med
Chambers RL, Tunnard I, Scott H, Fraser LK, Sleeman KE.   +4 more
europepmc   +1 more source

Temporal Effects of Safflower Oil Diet-Based Linoleic Acid Supplementation on Barth Syndrome Cardiomyopathy. [PDF]

Circulation
Zhu S, Pang J, Nguyen A, Tan C, Tso A, Huynh T, Gu Y, Gustafsson AB, Vaz FM, Evans SM, Fang X.   +10 more
europepmc   +1 more source

Role of the Proteasome System in Shaping Cellular Immunological Characteristics and Its Impact in Modulating the Pathogenesis of Immune-Related Diseases.

Cells Tissues Organs
Abu-El-Rub E, Zegallai HM, Khasawneh R, Alzu'bi A, Al-Zoubi RM, Hatch GM.   +5 more
europepmc   +1 more source

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

Blood, 2004
Barth syndrome (BTHS) is a rare X-linked disease characterized by a triad of dilated cardiomyopathy, skeletal myopathy, and neutropenia. The disease is associated with mutations of the TAZ gene, resulting in defective cardiolipin (CL), an important inner mitochondrial membrane component.
Kuijpers, Taco W., Maianski, Nikolai A., Tool, Anton T. J., Becker, Kolja, Plecko, Barbara, Valianpour, Fredoen, Wanders, Ron J. A., Pereira, Rob, van Hove, Johan, Verhoeven, Arthur J., Roos, Dirk, Baas, Frank, Barth, Peter G.   +12 more
core   +5 more sources

Barth Syndrome Cardiomyopathy: An Update

Genes, 2022
Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis.
Xi Fang, Yutong Bao, Jennifer Veevers
exaly   +2 more sources

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome

Autophagy, 2022
Barth syndrome (BTHS) is an X-linked genetic disorder caused by mutations in the TAFAZZIN/Taz gene which encodes a transacylase required for cardiolipin remodeling.
Jia Nie, Yuguang Shi
exaly   +2 more sources

Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy

Circulation, 2021
Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin, which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic dysfunction during early infancy.
Peter Rehling, Mathias Hohl, Markus Hoth
exaly   +2 more sources