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Journal Article
Mitochondrion, ISSN 1567-7249, 11/2013, Volume 13, Issue 6, pp. 902 - 903
Journal Article
Journal Article
Proceedings of the National Academy of Sciences, USA, ISSN 0027-8424, 03/2012, Volume 109, Issue 13, pp. 4980 - 4985
The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human... 
Brain | Retrotransposons | Transposons | Neurodegenerative diseases | Nucleotide sequence | RNA | Genomes | Encephalopathy | Point mutation | Evolution | Gene mapping | Apoptosis | DNA sequencing
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2013, Volume 8, Issue 1
Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de... 
Medical research | Enzymes | Gastroenteritis | Genes | Medicine, Experimental | Amino acids | Genetic aspects | Leigh disease
Journal Article
The EMBO Journal, ISSN 0261-4189, 01/2019, Volume 38, Issue 1, p. n/a
As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic... 
metabolism | myopathy | genetic disease | endoplasmic reticulum stress | HOMEOSTASIS | MITOCHONDRIAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | QUANTITATIVE-ANALYSIS | RHABDOMYOLYSIS | CELL BIOLOGY | SKELETAL-MUSCLE | UNFOLDED PROTEIN RESPONSE | OPA1 | MASS | ENDOPLASMIC-RETICULUM | Sarcoplasmic Reticulum - drug effects | Mitochondria, Muscle - metabolism | Molecular Chaperones - therapeutic use | Male | Muscle, Skeletal - metabolism | Phosphatidate Phosphatase - genetics | Endoplasmic Reticulum Stress - genetics | Taurochenodeoxycholic Acid - pharmacology | Muscle, Skeletal - drug effects | Muscular Diseases - drug therapy | Lipid Metabolism - genetics | Sarcoplasmic Reticulum - metabolism | Taurochenodeoxycholic Acid - therapeutic use | Molecular Chaperones - pharmacology | Endoplasmic Reticulum Stress - drug effects | Muscular Diseases - metabolism | Mice, Transgenic | Muscular Diseases - pathology | Animals | Lipid Metabolism - drug effects | Sarcoplasmic Reticulum - pathology | Mice | Mitochondria, Muscle - drug effects | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Lipids | Biosynthesis | Phospholipids | Mitochondrial DNA | Rhabdomyolysis | Accumulation | Glucose metabolism | Mitochondria | Alterations | Clonal deletion | Sarcoplasmic reticulum | Genetic analysis | Deletion | Oxidation | Children | Contact stresses | Stress response | Elongation | Desaturation | Therapeutic applications | Muscles | Histology | Pharmacology | Metabolism | Fatty acids | Stress | Skeletal muscle | Mutants | Depletion | Phosphatidate phosphatase | Bezafibrate | Morphology | Lpin1 gene | Mutation | Cellular stress response | Myopathy | Protein Biosynthesis & Quality Control | Molecular Biology of Disease
Journal Article
Neuromuscular Diseases, ISSN 2222-8721, 05/2015, Volume 5, Issue 1, p. 10
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2015, Volume 38, Issue 6, pp. 1041 - 1057
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2019, Volume 14, Issue 1
Background: Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The... 
Chemical Sciences
Journal Article
JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 03/2015, Volume 7, p. 14
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2017, Volume 101, Issue 2, pp. 283 - 290
Journal Article