Results 131 to 140 of about 1,210,543 (141)

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

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice. [PDF]

Int J Mol Sci
Snider PL, Sierra Potchanant EA, Sun Z, Edwards DM, Chan KK, Matias C, Awata J, Sheth A, Pride PM, Payne RM, Rubart M, Brault JJ, Chin MT, Nalepa G, Conway SJ.   +14 more
europepmc   +1 more source

Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy. [PDF]

Front Mol Med
Hachmann M, Gülcan G, Rajendran R, Höring M, Liebisch G, Bachhuka A, Kohlhaas M, Maack C, Ergün S, Dudek J, Karnati S.   +10 more
europepmc   +1 more source

Editorial: Mitochondrial dysfunction affects mechano-energetic coupling in heart failure. [PDF]

Front Mol Med
Dudek J, Ritterhoff J.
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.
Barbara Plecko, Taco Kuijpers, Frank Baas   +2 more
exaly   +6 more sources

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Barth Syndrome (BTHS)

exaly   +2 more sources

PP03.3 – 2376: A non-classical clinical course of Barth syndrome (BTHS)

European Journal of Paediatric Neurology, 2015
A non-classical clinical course of Barth Syndrome (BTHS) A six year-old boy, born to non-consanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth.
M. Fleger, M. Huemer, K. Schlachter, J. Mayr, W. Sperl, H. Prokisch, T. Haack, A. Bowron   +7 more
openaire   +1 more source

Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies—A Comprehensive Narrative Review

Genes
Consolato Sergi, Sergi Consolato M
exaly  

Real-world disease burden and health care resource utilization for patients with Barth syndrome

Journal of Medical Economics
Mary Kay Koenig, Lindsay Marjoram, Bruce Cohen   +2 more
exaly  

The B-lymphoblastoid model in Barth syndrome

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids
Robin Duncan, John Zewen Chan
exaly