Results 121 to 130 of about 669 (138)

Mitochondrial cardiolipin remodeling facilitates efficient myoblast differentiation. [PDF]

J Lipid Res
Ohba Y, Fujiwara CA, Arita M.
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.
Taco W Kuijpers, Barbara Plecko, Fredoen Valianpour   +2 more
exaly   +6 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.
Yutong Bao, Jennifer Veevers, Xi Fang
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 Ca 2+ 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.
Edoardo Bertero, Alexander G Nickel, Mathias Hohl   +2 more
exaly   +2 more sources

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

American Journal of Medical Genetics, Part A, 2012
Barth syndrome (BTHS); MIM accession # 302060) is a rare X-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities.
Matthew Fletcher, Barry J Byrne, Carolyn T Spencer   +2 more
exaly   +2 more sources

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

American Journal of Medical Genetics, Part A, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28.
Peter G Barth, Fredoen Valianpour, Marinus Duran   +2 more
exaly   +2 more sources

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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 (BTHS)

exaly   +2 more sources

X Chromosome Inactivation in Carriers of Barth Syndrome [PDF]

American Journal of Human Genetics, 1998
SummaryBarth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named “tafazzins.” Unique ...
Karen Hélène Ørstavik, Anna K Naumova, Agi Gedeon   +2 more
exaly   +2 more sources