Results 21 to 30 of about 669 (138)

Tafazzin regulates neutrophil maturation and inflammatory response [PDF]

EMBO Reports
Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy.
Przemysław Zakrzewski, Christopher M Rice, Kathryn Fleming, Drinalda Cela, Sarah J Groves, Fernando M Ponce-Garcia, Willem Gibbs, Kiran Roberts, Tobias Pike, Douglas Strathdee, Eve Anderson, Angela H Nobbs, Ashley M Toye, Colin Steward, Borko Amulic   +14 more
doaj   +3 more sources

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases. [PDF]

Adv Sci (Weinh)
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 ...
Singh P, Tahavvori A, Kuschner CE, Espin BB, Kazmi J, Ramos SV, Yin T, Hayashida K, Ito-Hagiwara K, Endo Y, Yoshioka K, Hagiwara J, Sohi A, Oropallo A, Haddad G, Li T, Becker LB, Kim J.   +17 more
europepmc   +2 more sources

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome [PDF]

Experimental and Molecular Medicine
Barth syndrome (BTHS) is an ultrarare, infantile-onset, X-linked recessive mitochondrial disorder that primarily affects males, owing to mutations in TAFAZZIN, which catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for ...
Ye Seul Kim, Sukdong Yoo, Yoon Ji Jung, Jung Won Yoon, Yong Seong Kwon, Nayeon Lee, Chong Kun Cheon, Jae Ho Kim   +7 more
doaj   +2 more sources

Cardiolipin acyl chain composition tailors the conformation of mammalian ATP synthase dimers [PDF]

Communications Chemistry
The interplay between ATP synthase dimers and the four-tailed lipid cardiolipin (CL) shapes mitochondrial cristae structure and function. In the mitochondrial disorder Barth syndrome (BTHS), cristae membranes accumulate a less unsaturated, three-tailed ...
M. Makowski, V. G. Almendro-Vedia, I. López-Montero   +2 more
doaj   +2 more sources

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome[S] [PDF]

Journal of Lipid Research, 2015
Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of card­iolipin (CL) species in mitochondria.
Roberto Angelini, Simona Lobasso, Ruggiero Gorgoglione, Ann Bowron, Colin G. Steward, Angela Corcelli   +5 more
doaj   +2 more sources

Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model [PDF]

Orphanet Journal of Rare Diseases
Background Living with children with disabilities has a significant impact on parental health-related quality of life (HRQoL) and family functioning. Barth syndrome (BTHS) is a rare, X-linked disorder that primarily affects males, presenting symptoms ...
Yoonjeong Lim, Ickpyo Hong, Areum Han
doaj   +2 more sources

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation [PDF]

Frontiers in Cardiovascular Medicine
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria.
Mingxuan Che, Mingxuan Che, Fuhai Li, Yaning Jia, Yaning Jia, Qingzheng Liu, Jian Hu, Jidong Zhang, Shiguo Liu, Shiguo Liu   +9 more
doaj   +2 more sources

Genotype-Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations. [PDF]

Health Sci Rep
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Nazir A, Sarwar AH, Nazar R, Shahab SH, Manan S, Rafique H, Khan AT, Shubietah A, Zaidi SRH, Khan B.   +9 more
europepmc   +2 more sources

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Journal of Lipid Research, 2006
Barth Syndrome (BTHS) is an X-linked recessive disorder that results in abnormal metabolism of the mitochondrial phospholipid cardiolipin (CL). CLs are decreased and monolysocardiolipins (MLCLs), intermediates in CL metabolism, are increased in a variety
Michiel Adriaan van Werkhoven, David Ross Thorburn, Agi Kyra Gedeon, James Jonathon Pitt   +3 more
doaj   +2 more sources

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment

Journal of Cardiovascular Development and Disease, 2022
Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has ...
Anandbir Bath, Oguz Akbilgic, David Wilbanks, Jay Patel, Morgan Wallen, Shereen Haji, Arnab Das, John Alexander, Issa Pour-Ghaz, Deya Alkhatib, Yonglin Huang, Erik Lontok, John Jefferies   +12 more
doaj   +2 more sources