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Nature, ISSN 0028-0836, 2014, Volume 508, Issue 7498, pp. 96 - 100
Journal Article
The Plant Journal, ISSN 0960-7412, 11/2015, Volume 84, Issue 3, pp. 464 - 477
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 101 - 108
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | MOLYBDENUM COFACTOR | MIMICS | FEATURES | FAMILY | IMPORT | THERAPY | HYPOXIC-ISCHEMIC ENCEPHALOPATHY | MUTATION | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | PATIENT | Predictive Value of Tests | Biomarkers - urine | Prognosis | Humans | Child, Preschool | Infant | Male | Electroencephalography | Sulfite Oxidase - deficiency | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - genetics | DNA Mutational Analysis | Female | Oxidoreductases Acting on Sulfur Group Donors - deficiency | Child | Infant, Newborn | Genetic Predisposition to Disease | Sulfite Oxidase - genetics | Risk Factors | Biomarkers - blood | Amino Acid Metabolism, Inborn Errors - therapy | Magnetic Resonance Imaging | Phenotype | Oxidoreductases Acting on Sulfur Group Donors - genetics | Mutation | Amino Acid Metabolism, Inborn Errors - enzymology | Oxidases | Medical research | Sulfites | Nervous system diseases | Cysteine | Molybdenum compounds | Gene mutations | Analysis | Medicine, Experimental | Seizures (Medicine) | Uric acid | Homocysteine | Urine | Cerebellum | Neuroimaging | Neonates | Plasma | Nuclear magnetic resonance--NMR | Spasticity | Substantia alba | Molybdenum | Mental retardation | Feeding | Literature reviews | Sulfite | Atrophy | Microencephaly | Magnetic resonance imaging | Computed tomography | Sulfite oxidase | Neurological complications | Consanguinity | Seizures
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4365 - 4378
Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism characterized by neurodegeneration and death in early childhood. The... 
ENCEPHALOPATHY | MEDICINE, RESEARCH & EXPERIMENTAL | BIOLOGICAL FUNCTION | GEPHYRIN | METABOLISM | CALCIUM | INJURY | SULFITE OXIDASE DEFICIENCY | MOLECULAR-BASIS | DEHYDROGENASE | INBORN-ERRORS | Cysteine - analogs & derivatives | Metal Metabolism, Inborn Errors - metabolism | Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors | Humans | Receptors, N-Methyl-D-Aspartate - metabolism | Synapses - pathology | Neurodegenerative Diseases - drug therapy | Tungsten Compounds - toxicity | Synapses - metabolism | HEK293 Cells | Organophosphorus Compounds - pharmacology | Metal Metabolism, Inborn Errors - drug therapy | Cysteine - metabolism | GABAergic Neurons - metabolism | Calcium Signaling | Disease Models, Animal | Memantine - pharmacology | Neurodegenerative Diseases - pathology | Metal Metabolism, Inborn Errors - pathology | Neurodegenerative Diseases - genetics | GABAergic Neurons - pathology | Neurodegenerative Diseases - metabolism | Animals | Pterins - pharmacology | Mice | Neurons | Physiological aspects | GABA | Aspartate | Brain damage | Calpain | Glutamate | Molybdenum | Metabolism, Inborn errors of | Methyl aspartate | Care and treatment | Cellular signal transduction | Research | Inborn errors of metabolism | Glutamic acid receptors (ionotropic) | Homeostasis | Antagonists | Infants | Calcium influx | Proteins | Neurotoxicity | γ-Aminobutyric acid | Metabolites | Neurodegeneration | Rodents | Children | Urine | Enzymes | N-Methyl-D-aspartic acid receptors | Metabolism | Gephyrin | Memantine | Molecular modelling | Excitotoxicity | Mutation | Alzheimers disease | Brain injury | Apoptosis
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2010, Volume 207, Issue 7, pp. 1513 - 1523
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 07/2010, Volume 285, Issue 29, pp. 22244 - 22253
GSH is the major antioxidant and detoxifier of xenobiotics in mammalian cells. A strong decrease of intracellular GSH has been frequently linked to... 
Thiol | Thioredoxin Reductase | Oxidative Stress | Cysteine Cycle | Metabolism | Oxidation Reduction | Cell Biology | Apoptosis | Glutathione | Cystine
Journal Article
Drug Resistance Updates, ISSN 1368-7646, 2007, Volume 10, Issue 6, pp. 218 - 234
Abstract The increased incidence of malignant melanoma in the last decades, its high mortality and pronounced therapy resistance pose an enormous challenge.... 
Infectious Disease | Hematology, Oncology and Palliative Medicine | NF-κB | CD95 | TRAIL | PKB/Akt | PI3 kinase | Death ligands | Sorafenib | Melanoma | Bcl-2 proteins | B-Raf | MAPK | Apoptosis | CUTANEOUS MALIGNANT-MELANOMA | bcl-2 proteins | ACTIVATED PROTEIN-KINASE | sorafenib | melanoma | apoptosis | FACTOR-KAPPA-B | CHEMOSENSITIZES HUMAN-MELANOMA | BH3 MIMETIC ABT-737 | PHASE-II TRIAL | NF-kappa B | B-raf | MANTLE CELL LYMPHOMA | death ligands | PHARMACOLOGY & PHARMACY | TRAIL-INDUCED APOPTOSIS | CYTOCHROME-C RELEASE | BCL-2 FAMILY-MEMBERS | Apoptosis - drug effects | Humans | Gene Expression Regulation, Neoplastic | Melanoma - enzymology | Apoptosis - genetics | Drug Resistance, Neoplasm | Antineoplastic Agents - therapeutic use | Intracellular Signaling Peptides and Proteins - metabolism | Antineoplastic Combined Chemotherapy Protocols - pharmacology | Receptors, Death Domain - metabolism | Proto-Oncogene Proteins c-bcl-2 - metabolism | Caspases - metabolism | Melanoma - genetics | Antineoplastic Agents - pharmacology | Melanoma - metabolism | Cell Survival - drug effects | Cysteine Proteinase Inhibitors - therapeutic use | Receptors, Death Domain - agonists | Tumor Suppressor Protein p53 - metabolism | Signal Transduction - genetics | Melanoma - pathology | Animals | Signal Transduction - drug effects | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Protein Kinase Inhibitors - therapeutic use | Melanoma - drug therapy | Proto-Oncogene Proteins c-bcl-2 - antagonists & inhibitors | Mutation | Development and progression | Care and treatment | Health aspects | Cancer
Journal Article