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1. Full Text Inborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism
by Xie, Zhigang and Jones, Albert and Deeney, Jude T and Hur, Seong Kwon and Bankaitis, Vytas A
Cell Reports, ISSN 2211-1247, 02/2016, Volume 14, Issue 5, pp. 991 - 999
Inborn errors of metabolism (IEMs) occur with high incidence in human populations. Especially prevalent among these are inborn deficiencies in fatty acid... 
STORAGE | ENERGY | NEOCORTEX | CARNITINE BIOSYNTHESIS | METABOLISM | MOUSE | SPECTRUM DISORDERS | INTERMEDIATE PROGENITOR CELLS | CEREBRAL-CORTEX | LIPID DROPLETS | CELL BIOLOGY | Neocortex - pathology | Autistic Disorder - pathology | Neocortex - embryology | Autistic Disorder - metabolism | 3-Hydroxyacyl CoA Dehydrogenases - metabolism | Cell Lineage - drug effects | Cell Self Renewal - drug effects | Racemases and Epimerases - metabolism | Lipid Metabolism, Inborn Errors - pathology | Biocatalysis - drug effects | Carnitine - pharmacology | Carnitine O-Palmitoyltransferase - metabolism | Oxidation-Reduction - drug effects | Female | Carnitine O-Palmitoyltransferase - deficiency | Lipid Droplets - metabolism | Fatty Acids - metabolism | Lipid Droplets - drug effects | Lipid Metabolism, Inborn Errors - metabolism | Enoyl-CoA Hydratase - metabolism | Neural Stem Cells - drug effects | Neural Stem Cells - pathology | Carbon-Carbon Double Bond Isomerases - metabolism | Cell Division - drug effects | Animals | Acetyl-CoA C-Acyltransferase - metabolism | Mice | RNA, Small Interfering - metabolism | Index Medicus
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2. Full Text Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation
by Colak, Gozde and Pougovkina, Olga and Dai, Lunzhi and Tan, Minjia and te Brinke, Heleen and Huang, He and Cheng, Zhongyi and Park, Jeongsoon and Wan, Xuelian and Liu, Xiaojing and Yue, Wyatt W and Wanders, Ronald J. A and Locasale, Jason W and Lombard, David B and de Boer, Vincent C. J and Zhao, Yingming
Molecular & cellular proteomics, ISSN 1535-9476, 2015, Volume 14, Issue 11, pp. 3056 - 3071
The protein substrates of sirtuin 5-regulated lysine malonylation (Kmal) remain unknown, hindering its functional analysis. In this study, we carried out... 
WIDESPREAD | COA | SUCCINYLATION | PHOSPHORYLATION | ACETYLATION | SUBSTRATE | BIOCHEMICAL RESEARCH METHODS | SIRT5 | COENZYME-A | IDENTIFICATION | DEFICIENCY | Malonyl Coenzyme A - genetics | Liver - pathology | Humans | Male | Sirtuins - deficiency | Methylmalonic Acid - metabolism | Carboxy-Lyases - genetics | Malonyl Coenzyme A - metabolism | Malonates - metabolism | Carboxy-Lyases - metabolism | Lysine - metabolism | Sirtuins - genetics | Fatty Acids - metabolism | Fibroblasts - metabolism | Cell Line | Oxidation-Reduction | Liver - metabolism | Metabolism, Inborn Errors - metabolism | Models, Molecular | Mitochondria - metabolism | Mitochondria - pathology | Carboxy-Lyases - deficiency | Metabolism, Inborn Errors - genetics | Mice, Knockout | Animals | Fibroblasts - cytology | Mice | Metabolism, Inborn Errors - pathology | Index Medicus | Research | mitochondrial function | lysine malonylation | Proteomic | fatty acid oxydation
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3. Full Text Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane
by Takatsu, Hiroyuki and Tanaka, Gaku and Segawa, Katsumori and Suzuki, Jun and Nagata, Shigekazu and Nakayama, Kazuhisa and Shin, Hye-Won
Journal of Biological Chemistry, ISSN 0021-9258, 11/2014, Volume 289, Issue 48, pp. 33543 - 33556
Type IV P-type ATPases (P4-ATPases) are believed to translocate aminophospholipids from the exoplasmic to the cytoplasmic leaflets of cellular membranes. The... 
ATP8B1 DEFICIENCY | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | SUBCELLULAR-LOCALIZATION | BILE CANALICULAR MEMBRANE | AMINOPHOSPHOLIPID TRANSLOCASE | HEREDITARY CHOLESTASIS | CDC50 PROTEINS | EXPRESSION | PHOSPHATIDYLSERINE | FAMILIAL INTRAHEPATIC CHOLESTASIS | Cricetinae | Cholestasis, Intrahepatic - genetics | Lipid Metabolism, Inborn Errors - genetics | Cricetulus | Lipid Metabolism, Inborn Errors - metabolism | Membrane Proteins - genetics | Cholestasis, Intrahepatic - pathology | Humans | Adenosine Triphosphatases - metabolism | Cell Membrane - genetics | Biological Transport, Active - genetics | Phospholipids - genetics | Substrate Specificity - genetics | Cholestasis, Intrahepatic - metabolism | Animals | Lipid Metabolism, Inborn Errors - pathology | Cell Membrane - pathology | HEK293 Cells | Adenosine Triphosphatases - genetics | Cell Membrane - metabolism | Membrane Proteins - metabolism | HeLa Cells | Phospholipids - metabolism | CHO Cells | Index Medicus | Plasma Membrane | Phospholipid | Lipid Bilayer | Lipid Transport | ATPase | Cell Biology
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4. Full Text ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
by Olsen, Rikke K. J and Olpin, Simon E and Andresen, Brage S and Miedzybrodzka, Zofia H and Pourfarzam, Morteza and Merinero, Begoña and Frerman, Frank E and Beresford, Michael W and Dean, John C. S and Cornelius, Nanna and Andersen, Oluf and Oldfors, Anders and Holme, Elisabeth and Gregersen, Niels and Turnbull, Douglass M and Morris, Andrew A. M and Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine and Sahlgrenska Academy and Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Brain, ISSN 0006-8950, 8/2007, Volume 130, Issue 8, pp. 2045 - 2054
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two... 
Mutations | Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | Mitochondrial myopathy | Electron transfer flavoprotein ubiquinone oxidoreductase | riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | ACYLCOENZYME-A DEHYDROGENASE | BETA-OXIDATION | OXIDATIVE-PHOSPHORYLATION | UBIQUINONE OXIDOREDUCTASE | ACIDEMIA TYPE-II | INTACT CULTURED FIBROBLASTS | ACIDURIA TYPE-II | NEUROSCIENCES | CLINICAL NEUROLOGY | LIPID-STORAGE MYOPATHY | SKELETAL-MUSCLE | mitochondrial myopathy | electron transfer flavoprotein ubiquinone | mutations | ELECTRON-TRANSFER FLAVOPROTEIN | oxidoreductase | Mitochondrial Myopathies - metabolism | Humans | Mitochondria, Muscle - metabolism | Child, Preschool | Iron-Sulfur Proteins - genetics | Male | Muscle, Skeletal - metabolism | Adult | Female | Carnitine - analogs & derivatives | Electron Transport - physiology | Brain Diseases, Metabolic - enzymology | Child | Fatty Acids - metabolism | Electron-Transferring Flavoproteins - genetics | Brain Diseases, Metabolic - genetics | Oxidation-Reduction | Riboflavin - therapeutic use | Carnitine - blood | Metabolism, Inborn Errors - metabolism | Oxidoreductases Acting on CH-NH Group Donors - genetics | Metabolism, Inborn Errors - genetics | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - drug therapy | Mitochondrial Myopathies - genetics | Acyl-CoA Dehydrogenase - deficiency | Adolescent | Muscle, Skeletal - pathology | Mutation | Metabolism, Inborn Errors - pathology | Index Medicus | Abridged Index Medicus | Electron Transport | Fatty Acids | pathology | Oxidoreductases Acting on CH-NH Group Donors | Riboflavin | Metabolic | MEDICIN OCH HÄLSOVETENSKAP | Acyl-CoA Dehydrogenase | Skeletal | Inborn Errors | Mitochondria | genetics | Brain Diseases | Muscle | MEDICAL AND HEALTH SCIENCES | drug therapy | Mitochondrial Myopathies | Electron-Transferring Flavoproteins | Preschool | physiology | blood | Iron-Sulfur Proteins | enzymology | Carnitine | deficiency | analogs & derivatives | metabolism | therapeutic use
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5. Full Text Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia
by Cotter, David G and Ercal, Baris and Huang, Xiaojing and Leid, Jamison M and D'Avignon, D. André and Graham, Mark J and Dietzen, Dennis J and Brunt, Elizabeth M and Patti, Gary J and Crawford, Peter A
Journal of Clinical Investigation, ISSN 0021-9738, 12/2014, Volume 124, Issue 12, pp. 5175 - 5190
Nonalcoholic fatty liver disease (NAFLD) spectrum disorders affect approximately 1 billion individuals worldwide. However, the drivers of progressive... 
HMG-COA SYNTHASE | MEDICINE, RESEARCH & EXPERIMENTAL | PPAR-ALPHA | PERFUSED RAT LIVER | HEPATIC INSULIN-RESISTANCE | MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE | CARDIOVASCULAR-DISEASE | KETONE-BODY METABOLISM | ACID OXIDATION | COENZYME-A METABOLISM | MASS-SPECTROMETRY | Mitochondrial Diseases - pathology | Non-alcoholic Fatty Liver Disease - pathology | Gluconeogenesis - drug effects | Hydroxymethylglutaryl-CoA Synthase - genetics | Mitochondrial Diseases - metabolism | Acyl Coenzyme A - genetics | Male | Hydroxymethylglutaryl-CoA Synthase - metabolism | Hypoglycemia - pathology | Hyperglycemia - genetics | Hyperglycemia - chemically induced | Non-alcoholic Fatty Liver Disease - chemically induced | Mice, Mutant Strains | Hyperglycemia - pathology | Hydroxymethylglutaryl-CoA Synthase - deficiency | Acyl Coenzyme A - metabolism | Hypoglycemia - genetics | Mitochondrial Diseases - genetics | Dietary Fats - adverse effects | Non-alcoholic Fatty Liver Disease - genetics | Citric Acid Cycle - drug effects | Metabolism, Inborn Errors - metabolism | Glucose - genetics | Non-alcoholic Fatty Liver Disease - metabolism | Hypoglycemia - metabolism | Metabolism, Inborn Errors - genetics | Hyperglycemia - metabolism | Citric Acid Cycle - genetics | Animals | Gluconeogenesis - genetics | Glucose - metabolism | Mice | Metabolism, Inborn Errors - pathology | Enzymes | Carbohydrates | Liver diseases | Pathogenesis | Liver | Lipids | Glucose | Metabolism | Fatty acids | Studies | Nutrition research | Metabolites | Rodents | Diabetes | Index Medicus | Abridged Index Medicus
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6. Full Text Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion
by Cherry, Anne B. C and Gagne, Katelyn E and Mcloughlin, Erin M and Baccei, Anna and Gorman, Bryan and Hartung, Odelya and Miller, Justine D and Zhang, Jin and Zon, Rebecca L and Ince, Tan A and Neufeld, Ellis J and Lerou, Paul H and Fleming, Mark D and Daley, George Q and Agarwal, Suneet
STEM CELLS, ISSN 1066-5099, 07/2013, Volume 31, Issue 7, pp. 1287 - 1297
In congenital mitochondrial DNA (mtDNA) disorders, a mixture of normal and mutated mtDNA (termed heteroplasmy) exists at varying levels in different tissues,... 
Pearson's marrow pancreas syndrome | Mitochondrial DNA | Induced pluripotent stem cells | Heteroplasmy | Hematopoiesis | Human genetics | MUSCLE | FIBROBLASTS | CELL & TISSUE ENGINEERING | CELL BIOLOGY | MTDNA | ONCOLOGY | GENETICS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MUTATION | GENERATION | PATIENT | HEMATOLOGY | Mitochondrial Diseases - pathology | Sequence Deletion | Fibroblasts - physiology | Humans | Mitochondrial Diseases - metabolism | Child, Preschool | Anemia, Sideroblastic - metabolism | Cell Differentiation - genetics | DNA, Mitochondrial - genetics | Lipid Metabolism, Inborn Errors - pathology | Hematopoietic Stem Cells - physiology | Female | Anemia, Sideroblastic - pathology | Induced Pluripotent Stem Cells - cytology | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Mitochondrial Diseases - genetics | Cell Line | DNA, Mitochondrial - metabolism | Induced Pluripotent Stem Cells - physiology | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Lipid Metabolism, Inborn Errors - diagnosis | Hematopoietic Stem Cells - metabolism | Muscular Diseases - pathology | Anemia, Sideroblastic - genetics | Muscular Diseases - diagnosis | Hematopoietic Stem Cells - cytology | Fibroblasts - cytology | Mitochondrial Diseases - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Genetic research | Stem cell research | Genetic disorders | Analysis | Stem cells | Index Medicus
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7. Full Text Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake
by Nabuurs, C.I.H.C and Choe, C.U and Veltien, A.A and Kan, H.E and Loon, L.J. van and Rodenburg, R.J.T and Matschke, J and Wieringa, B and Kemp, G.J and Isbrandt, D and Heerschap, A
Journal of Physiology, ISSN 0022-3751, 2013, Volume 591, Issue 2, pp. 571 - 592
Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | RESPIRATORY-CHAIN | PHYSIOLOGY | MAGNETIC-RESONANCE-SPECTROSCOPY | ACTIVATED PROTEIN-KINASE | HUMAN BRAIN | IN-VIVO | ACETYL-COA CARBOXYLASE | NEUROSCIENCES | HUMAN SKELETAL-MUSCLE | BETA-GUANIDINOPROPIONIC ACID | ORAL SUPPLEMENTATION | Speech Disorders - diet therapy | Developmental Disabilities - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Amidinotransferases - genetics | Muscle, Skeletal - metabolism | Amino Acid Metabolism, Inborn Errors - diet therapy | Muscle Fibers, Skeletal - metabolism | Mitochondria - ultrastructure | Intellectual Disability - metabolism | Proton-Translocating ATPases - metabolism | Speech Disorders - pathology | Amino Acid Metabolism, Inborn Errors - metabolism | Developmental Disabilities - pathology | Adenosine Triphosphate - metabolism | Creatine - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Intellectual Disability - diet therapy | Hand Strength | Developmental Disabilities - physiopathology | Speech Disorders - metabolism | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy | Intellectual Disability - pathology | Ischemia - metabolism | Lipid Metabolism | Muscular Atrophy - genetics | Mitochondria - metabolism | Amidinotransferases - metabolism | Speech Disorders - physiopathology | Mice, Knockout | Intellectual Disability - physiopathology | Phosphates - metabolism | Animals | Energy Metabolism | Muscle, Skeletal - physiopathology | Hindlimb - pathology | Muscle Fibers, Skeletal - pathology | Creatine Kinase - metabolism | Creatine - therapeutic use | Mice | Muscle, Skeletal - pathology | Developmental Disabilities - diet therapy | Hydrogen-Ion Concentration | Physiological aspects | Creatine | Homeostasis | Enzymes | Musculoskeletal system | Biosynthesis | Metabolism | Morphology | Index Medicus | Skeletal Muscle and Exercise
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8. Full Text Sitosterolemia's stomatocytosis and macrothrombocytopenia
by Neff, Anne T
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 22, pp. 4283 - 4283
HEMATOLOGY | Acid-Base Imbalance - blood | Intestinal Diseases - complications | Metabolism, Inborn Errors - etiology | Humans | Middle Aged | Acid-Base Imbalance - diagnosis | Male | Thrombocytopenia - complications | Anemia, Hemolytic, Congenital - etiology | Hypercholesterolemia - pathology | Lipid Metabolism, Inborn Errors - pathology | Phytosterols - adverse effects | Metabolism, Inborn Errors - blood | Hypercholesterolemia - blood | Acid-Base Imbalance - etiology | Lipid Metabolism, Inborn Errors - blood | Acid-Base Imbalance - pathology | Lipid Metabolism, Inborn Errors - diagnosis | Anemia, Hemolytic, Congenital - blood | Anemia, Hemolytic, Congenital - pathology | Thrombocytopenia - pathology | Thrombocytopenia - blood | Intestinal Diseases - diagnosis | Anemia, Hemolytic, Congenital - diagnosis | Erythrocytes, Abnormal - pathology | Metabolism, Inborn Errors - diagnosis | Phytosterols - blood | Intestinal Diseases - blood | Hypercholesterolemia - diagnosis | Hypercholesterolemia - complications | Thrombocytopenia - diagnosis | Lipid Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - pathology | Intestinal Diseases - pathology | Index Medicus | Abridged Index Medicus
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9. Full Text Mice deficient in the putative phospholipid flippase Atp11c exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span
by Yabas, Mehmet and Coupland, Lucy A and Cromer, Deborah and Winterberg, Markus and Teoh, Narci C and D'rozario, James and Kirk, Kiaran and Bröer, Stefan and Parish, Christopher R and Enders, Anselm
Journal of Biological Chemistry, ISSN 0021-9258, 07/2014, Volume 289, Issue 28, pp. 19531 - 19537
Transmembrane lipid transporters are believed to establish and maintain phospholipid asymmetry in biological membranes; however, little is known about the in... 
TRANSLOCATION | ASYMMETRY | GENE | ATPASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PURIFICATION | DISEASE | RED-BLOOD-CELLS | IDENTIFICATION | PHOSPHATIDYLSERINE | BIOLOGICAL-MEMBRANES | Anemia, Hemolytic, Congenital - metabolism | Acid-Base Imbalance - pathology | Metabolism, Inborn Errors - metabolism | Adenosine Triphosphatases - metabolism | Acid-Base Imbalance - metabolism | Erythrocyte Membrane - enzymology | Erythrocytes, Abnormal - metabolism | Anemia, Hemolytic, Congenital - pathology | Phospholipids - genetics | Metabolism, Inborn Errors - genetics | Anemia, Hemolytic, Congenital - genetics | Acid-Base Imbalance - genetics | Biological Transport, Active | Erythrocytes, Abnormal - pathology | Animals | Erythrocyte Membrane - genetics | Mice, Mutant Strains | Adenosine Triphosphatases - genetics | Mice | Phospholipids - metabolism | Metabolism, Inborn Errors - pathology | Cell Survival - physiology | Index Medicus | Erythrocyte | Plasma Membrane | P4 ATPases | Lipid Transport | Anemia | Phospholipid | Reports | ATP11C | Phosphatidylserine | Flippase | Stomatocytosis
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10. Full Text Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
by Diekman, E. F and Visser, G and Schmitz, J. P. J and Nievelstein, R. A. J and de Sain-van der Velden, M and Warop, M and van der Pol, W. L and Houten, S. M and van Riel, N. A. W and Takken, T and Jeneson, J. A. L
PLoS ONE, ISSN 1932-6203, 2016, Volume 11, Issue 2, pp. e0147818 - e0147818
Rhabdomyolysis is common in very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and other metabolic myopathies, but its pathogenic basis is poorly... 
SKELETAL-MUSCLE | MAGNETIC-RESONANCE-SPECTROSCOPY | ACID BETA-OXIDATION | MAXIMAL FAT OXIDATION | FATIGUE | MULTIDISCIPLINARY SCIENCES | IN-VIVO | KINASE | RESISTANCE | DUCHENNE MUSCULAR-DYSTROPHY | MITOCHONDRIAL MYOPATHIES | Mitochondrial Diseases - pathology | Humans | Muscle Fibers, Fast-Twitch - metabolism | Mitochondrial Diseases - metabolism | Rhabdomyolysis - complications | Male | Muscle Fibers, Slow-Twitch - metabolism | Adenosine Triphosphate - biosynthesis | Case-Control Studies | Mitochondrial Diseases - complications | Exercise | Lipid Metabolism, Inborn Errors - pathology | Muscular Diseases - physiopathology | Rhabdomyolysis - pathology | Adult | Female | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Oxidative Phosphorylation | Rhabdomyolysis - physiopathology | Mitochondria - metabolism | Muscular Diseases - pathology | Models, Statistical | Acetylcarnitine - blood | Rhabdomyolysis - metabolism | Lipid Metabolism, Inborn Errors - physiopathology | Phosphates - metabolism | Muscle Fibers, Slow-Twitch - pathology | Adolescent | Muscle Fibers, Fast-Twitch - pathology | Muscular Diseases - complications | Phosphocreatine - metabolism | Lipid Metabolism, Inborn Errors - complications | Mitochondrial Diseases - physiopathology | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Physiological aspects | Cycling | Research | Rhabdomyolysis | Risk factors | Phosphates | Pediatrics | Neurosciences | Nuclear magnetic resonance--NMR | Laboratories | Oxidative metabolism | Homeostasis | Chains | Dehydrogenase | Muscular dystrophy | Acyl-CoA dehydrogenase | Defects | Mitochondria | Child development | Energy | Metabolites | Rodents | Workloads | Mathematical models | Bioinformatics | Enzymes | Departments | Phosphorus | Phosphocreatine | Earth science | Metabolism | Medical screening | Patients | Fatty acids | Carnitine | Children & youth | Energy balance | Musculoskeletal system | Chemistry | Hypotheses | Hospitals | Bicycles | Quadriceps muscle | Respiration | ATP | Metabolic disorders | Index Medicus | Nuclear magnetic resonance | NMR
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11. Full Text Lipolysis and lipophagy in lipid storage myopathies
by Angelini, Corrado and Nascimbeni, Anna Chiara and Cenacchi, Giovanna and Tasca, Elisabetta
BBA - Molecular Basis of Disease, ISSN 0925-4439, 07/2016, Volume 1862, Issue 7, pp. 1367 - 1373
Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the... 
NLSD-M | TFEB | Carnitine deficiency | Lipid storage myopathy | MADD | BIOCHEMISTRY & MOLECULAR BIOLOGY | AUTOPHAGY | LYSOSOMAL BIOGENESIS | SKELETAL-MUSCLE | BIOPHYSICS | GENE | METABOLISM | DISEASE | MUTATIONS | BEZAFIBRATE | PNPLA2 | Hyperammonemia - metabolism | Humans | Male | Carnitine - metabolism | Autophagy | Muscles - pathology | Hyperammonemia - pathology | Carnitine - deficiency | Lipid Metabolism, Inborn Errors - pathology | Carnitine O-Palmitoyltransferase - metabolism | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - pathology | Adult | Female | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - metabolism | Carnitine O-Palmitoyltransferase - deficiency | Muscles - metabolism | Child | Muscular Dystrophies - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Muscular Diseases - metabolism | Metabolism, Inborn Errors - metabolism | Cardiomyopathies - pathology | Muscular Diseases - pathology | Muscular Dystrophies - pathology | Lipolysis | Cardiomyopathies - metabolism | Adolescent | Aged | Metabolism, Inborn Errors - pathology | Oxidases | Triglycerides | Lipase | Fatty acids | Analysis | Carnitine
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12. Full Text Loss of cardiac carnitine palmitoyltransferase 2 results in rapamycin-resistant, acetylation-independent hypertrophy
by Pereyra, Andrea S and Hasek, Like Y and Harris, Kate L and Berman, Alycia G and Damen, Frederick W and Goergen, Craig J and Ellis, Jessica M
Journal of Biological Chemistry, ISSN 0021-9258, 2017, Volume 292, Issue 45, pp. 18443 - 18456
Cardiac hypertrophy is closely linked to impaired fatty acid oxidation, but the molecular basis of this link is unclear. Here, we investigated the loss of an... 
MORTALITY | TARGET | PATHOLOGICAL HYPERTROPHY | cardiac metabolism | BIOCHEMISTRY & MOLECULAR BIOLOGY | mammalian target of rapamycin (mTOR) | HDAC INHIBITION | FAILURE | LEFT-VENTRICULAR HYPERTROPHY | DIASTOLIC DYSFUNCTION | acetylation | METABOLISM | FATTY-ACID OXIDATION | fatty acid oxidation | cardiac hypertrophy | CORONARY-HEART-DISEASE | Carnitine O-Palmitoyltransferase - genetics | Mitochondria, Heart - metabolism | Mitochondria, Heart - pathology | Atrial Remodeling - drug effects | Cardiomegaly - etiology | Male | Metabolism, Inborn Errors - therapy | Mitochondria, Heart - drug effects | Protein Processing, Post-Translational - drug effects | Carnitine O-Palmitoyltransferase - metabolism | Myocardium - metabolism | Carnitine O-Palmitoyltransferase - deficiency | Drug Resistance | Heart - physiopathology | Sirolimus - therapeutic use | Specific Pathogen-Free Organisms | Diet, Ketogenic | Metabolism, Inborn Errors - metabolism | Mice, Transgenic | Myocardium - pathology | Mechanistic Target of Rapamycin Complex 1 - antagonists & inhibitors | Enzyme Activation - drug effects | Mechanistic Target of Rapamycin Complex 1 - metabolism | Mice, Knockout | Acetylation - drug effects | Myocardium - enzymology | Animals | Cardiomegaly - prevention & control | Protein Kinase Inhibitors - therapeutic use | Survival Analysis | Heart - drug effects | Histone Deacetylase Inhibitors - therapeutic use | Metabolism, Inborn Errors - pathology | Metabolism, Inborn Errors - physiopathology | Crosses, Genetic | Index Medicus | Lipids
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