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Clinical genetics, ISSN 0009-9163, 2011, Volume 80, Issue 4, pp. 354 - 366
Journal Article
by Hong, D and Wang, Z and Zhang, W and Xi, J and Lu, J and Luan, X and Yuan, Y
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 04/2011, Volume 37, Issue 3, pp. 257 - 270
Journal Article
FASEB JOURNAL, ISSN 0892-6638, 03/2019, Volume 33, Issue 3, pp. 3152 - 3166
Myosin light chain 2 (MYL2) gene encodes the myosin regulatory light chain (RLC) simultaneously in heart ventricles and in slow-twitch skeletal muscle. Using... 
DIAGNOSIS | PHOSPHORYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | X-ray diffraction | R58Q-RLC mutation | MODEL | MYOPATHY | IDENTIFICATION | CELL BIOLOGY | FIBERS | cardioskeletal myopathy | muscle proteomics | HYPERTROPHIC CARDIOMYOPATHY | CROSS-BRIDGE KINETICS | DISEASE | BIOLOGY | CA2+ BINDING
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2006, Volume 103, Issue 31, pp. 11584 - 11588
Barth syndrome is an X-linked disease presenting with cardiomyopathy and skeletal muscle weakness. It is caused by mutations in tafazzin, a putative acyl... 
Mitochondria | Transposons | Disease models | Muscular diseases | Drosophila | Antibodies | Muscles | Lipids | Cardiolipins | Genetic mutation | Cardiolipin | Myopathy | MUTANT | myopathy | mitochondria | MULTIDISCIPLINARY SCIENCES | CRISTAE MORPHOLOGY | MITOCHONDRIAL DISEASE | cardiolipin | DEFICIENCY | SKELETAL-MUSCLE | CARDIOLIPIN METABOLISM | GENE | MIM 302060 | MUTATIONS | LINKED CARDIOSKELETAL MYOPATHY | Motor Activity - physiology | Drosophila melanogaster - physiology | Humans | Drosophila Proteins - metabolism | Phosphatidylcholines - metabolism | Drosophila melanogaster - genetics | Protein Isoforms - metabolism | Genetic Diseases, X-Linked - genetics | Disease Models, Animal | Cardiomyopathy, Dilated - genetics | 1-Acylglycerophosphocholine O-Acyltransferase - genetics | Animals, Genetically Modified | Muscle, Skeletal - ultrastructure | Cardiolipins - metabolism | Genetic Diseases, X-Linked - metabolism | Mitochondrial Myopathies - physiopathology | Muscle, Skeletal - physiology | Transcription Factors - genetics | Cardiomyopathy, Dilated - metabolism | Syndrome | Proteins - genetics | Transcription Factors - metabolism | Mitochondrial Myopathies - genetics | Animals | Proteins - metabolism | Muscle, Skeletal - abnormalities | Drosophila Proteins - genetics | Phosphatidylethanolamines - metabolism | 1-Acylglycerophosphocholine O-Acyltransferase - metabolism | Protein Isoforms - genetics | Models | Genetic aspects | Genetic disorders | Abnormalities | Enzymes | Mutation | Insects | Cellular biology | Biological Sciences
Journal Article
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 06/2019, Volume 294, Issue 30, pp. 11568 - 11578
Cardiolipin[MS1]  (CL) is the signature phospholipid of mitochondrial membranes. Although it has long been known that CL plays an important role in... 
pyruvate dehydrogenase complex (PDC) | tricarboxylic acid cycle (TCA cycle) (Krebs cycle) | PHOSPHORYLATION | mitochondria | PHOSPHATASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | pyruvate carboxylase (PC) | PERTURBATION | BARTH-SYNDROME | cardiolipin | DEFICIENCY | CARDIOSKELETAL MYOPATHY | HEART | METABOLISM | GENE | NEUTROPENIA
Journal Article
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 02/2009, Volume 106, Issue 7, pp. 2337 - 2341
Quantitative and qualitative alterations of mitochondrial cardiolipin have been implicated in the pathogenesis of Barth syndrome, an X-linked cardioskeletal... 
APOPTOSIS | DROSOPHILA-MELANOGASTER | Drosophila | MULTIDISCIPLINARY SCIENCES | MODEL | PLA2G6 | cardiolipin | INFANTILE NEUROAXONAL DYSTROPHY | tafazzin | METABOLISM | BIOSYNTHESIS | iPLA2 | CARDIOLIPIN DEFICIENCY | DIFFERENTIATION | LINKED CARDIOSKELETAL MYOPATHY | Care and treatment | Cardiomyopathy | Development and progression | Cardiolipin | Research | Health aspects | Heart diseases | Risk factors
Journal Article
Current Opinion in Hematology, ISSN 1065-6251, 01/2019, Volume 26, Issue 1, pp. 6 - 15
PURPOSE OF REVIEWBarth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes.... 
granulocytes | NONCOMPACTION | monocytes | DIAGNOSIS | Barth syndrome | macrophages | CARDIOMYOPATHY | TAZ MUTATIONS | neutropenia | granulocyte colony-stimulating factor | LINKED CARDIOSKELETAL MYOPATHY | HEMATOLOGY | Complications and side effects | Care and treatment | Granulocyte colony-stimulating factor | Research | Risk factors | Neutropenia
Journal Article