Results 161 to 170 of about 39,984 (208)

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

Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts. [PDF]

J Transl Genet Genom
Mejia EM, Sparagna GC, Miller DW, Hatch GM.   +3 more
europepmc   +1 more source

New roles for the major human 3\u27–5\u27 exonuclease TREX1 in human disease [PDF]

, 2008
Atkinson, John P, Kavanagh, David, Kothari, Parul H, Liszewski, M Kathryn, Richards, Anna, Shaikh, Aisha, Spitzer, Dirk   +6 more
core   +1 more source

The Anthropology of Family Business: An Imagined Ideal [PDF]

, 2013
Stewart, Alex
core   +1 more source

Hypocholesterolemia in Barth Syndrome

, 2009
openaire   +1 more source

Cardiolipin metabolism in Barth syndrome

, 2009
openaire   +2 more sources

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Cardiolipin metabolism and Barth Syndrome

Progress in Lipid Research, 2006
Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the
Kristin D, Hauff, Grant M, Hatch
openaire   +4 more sources

Dysmorphology of Barth syndrome

Clinical Dysmorphology, 2009
Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et ...
Rob, Hastings, Colin, Steward, Beverly, Tsai-Goodman, Ruth, Newbury-Ecob   +3 more
openaire   +3 more sources

CLINICOPATHOLOGIC CONFERENCE: BARTH SYNDROME

Fetal and Pediatric Pathology, 2005
A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
James C, Huhta, Herbert H, Pomerance, Enid Gilbert, Barness   +2 more
openaire   +2 more sources