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The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1095 - 1102
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was... 
MARIE-TOOTH-DISEASE | MENTAL-RETARDATION | GENETICS & HEREDITY | MOTOR-SENSORY NEUROPATHY | DEAFNESS | FACTOR AIF | CELL-DEATH | Neuroimaging | Exons | Humans | Apoptosis - genetics | Male | Muscle, Skeletal - metabolism | Mitochondria - ultrastructure | Charcot-Marie-Tooth Disease - genetics | Hearing Loss, Sensorineural - diagnosis | Mental Retardation, X-Linked - genetics | Apoptosis Inducing Factor - chemistry | Cell Nucleus - metabolism | Mitochondria - genetics | Base Sequence | Mental Retardation, X-Linked - diagnosis | Charcot-Marie-Tooth Disease - metabolism | Apoptosis Inducing Factor - metabolism | Hearing Loss, Sensorineural - metabolism | Oxidation-Reduction | Muscle, Skeletal - ultrastructure | Models, Molecular | Hearing Loss, Sensorineural - genetics | Mitochondria - metabolism | Apoptosis Inducing Factor - genetics | Protein Transport | Magnetic Resonance Imaging | Cell Nucleus - genetics | Pedigree | Brain - pathology | Protein Conformation | Muscle, Skeletal - pathology | Mutation | Charcot-Marie-Tooth Disease - diagnosis | Mental Retardation, X-Linked - metabolism | Charcot joints | Care and treatment | Research | Nucleotide sequencing | Gene mutations | DNA sequencing | Oxidases | Deafness | Nervous system diseases | Neurosciences | Genes | Genomics | Genetic research | Genetic aspects | Mitochondrial DNA | Apoptosis | Report
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 2010, Volume 396, Issue 1, pp. 95 - 100
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 639 - 649
We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and... 
OXIDATIVE-PHOSPHORYLATION | PROAPOPTOTIC STIMULI | ATROPHY | GENETICS & HEREDITY | PARTHANATOS | RELEASE | FACTOR AIF | Humans | Caspase 3 - metabolism | Male | Muscle, Skeletal - metabolism | DNA Primers - chemistry | Muscle, Skeletal - cytology | Flavin-Adenine Dinucleotide - metabolism | DNA, Mitochondrial - genetics | Genes, X-Linked | Mitochondrial Encephalomyopathies - metabolism | Computer Simulation | Muscle, Skeletal - drug effects | Female | Electron Transport - physiology | Infant, Newborn | Apoptosis Inducing Factor - metabolism | Fibroblasts - metabolism | In Situ Nick-End Labeling | DNA, Mitochondrial - metabolism | Mitochondrial Encephalomyopathies - genetics | Nervous System Diseases - drug therapy | Mutation - genetics | Twins, Monozygotic | Apoptosis Inducing Factor - genetics | Mitochondrial Encephalomyopathies - pathology | Magnetic Resonance Imaging | Poly(ADP-ribose) Polymerases - metabolism | Pedigree | Fibroblasts - drug effects | Nervous System Diseases - etiology | Protein Conformation | Fibroblasts - cytology | Poly (ADP-Ribose) Polymerase-1 | Dietary Supplements | Staurosporine - pharmacology | Apoptosis | Riboflavin - administration & dosage | Vitamin B2 | Gene mutations | Analysis | Genetic aspects | Research | DNA binding proteins | Flavin adenine dinucleotide | Gene expression | Mitochondrial encephalomyopathies | Health aspects | Report
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2015, Volume 290, Issue 34, pp. 20815 - 20826
Journal Article
Molecular Cell, ISSN 1097-2765, 06/2015, Volume 58, Issue 6, pp. 1001 - 1014
Journal Article
Journal of Pharmacology and Experimental Therapeutics, ISSN 0022-3565, 03/2013, Volume 344, Issue 3, pp. 600 - 615
5'-Benzylglycinyl-amiloride (UCD38B) and glycinyl-amiloride (UCD74A) are cell-permeant and cell-impermeant derivatives of amiloride, respectively, and used... 
THERAPY | HIF-2-ALPHA | PLASMINOGEN-ACTIVATOR | EXCHANGE INHIBITION | GROWTH | PROGRAMMED NECROSIS | AMILORIDE | PHARMACOLOGY & PHARMACY | HISTONE H2AX | DEATH | FACTOR AIF | Cell Cycle - genetics | Cyclin D1 - metabolism | RNA, Small Interfering - genetics | Apoptosis - drug effects | Humans | Amiloride - analogs & derivatives | Endoplasmic Reticulum - metabolism | Apoptosis - genetics | Protein Transport - drug effects | Membrane Potential, Mitochondrial - drug effects | Autophagy - drug effects | Glioma - metabolism | Sodium-Hydrogen Exchangers - metabolism | Glioma - genetics | Caspases - metabolism | Cell Nucleus - metabolism | Cell Death - genetics | Mitochondria - genetics | Endoplasmic Reticulum - drug effects | Glioma - pathology | Membrane Potential, Mitochondrial - genetics | Cell Cycle Checkpoints - genetics | Sodium-Hydrogen Exchangers - genetics | Autophagy - genetics | Cell Death - drug effects | Apoptosis Inducing Factor - metabolism | Caspases - genetics | Mitochondria - metabolism | Urokinase-Type Plasminogen Activator - genetics | Protein Transport - genetics | Apoptosis Inducing Factor - genetics | Poly(ADP-ribose) Polymerases - metabolism | Histones - genetics | Poly(ADP-ribose) Polymerases - genetics | Cell Nucleus - genetics | Cyclin D1 - genetics | Urokinase-Type Plasminogen Activator - metabolism | Cell Cycle Checkpoints - drug effects | Amiloride - pharmacology | Cell Line, Tumor | Cell Proliferation - drug effects | Histones - metabolism | Poly (ADP-Ribose) Polymerase-1 | Cell Cycle - drug effects | Glioma - drug therapy
Journal Article
Science, ISSN 0036-8075, 10/2016, Volume 354, Issue 6308, pp. aad6872 - aad6872
Inhibition or genetic deletion of poly(ADP-ribose) (PAR) polymerase-1 (PARP-1) is protective against toxic insults in many organ systems. The molecular... 
APOPTOSIS | MIGRATION-INHIBITORY FACTOR | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | FACTOR MIF | PARTHANATOS | CYTOKINE | ENZYMATIC-ACTIVITY | TAUTOMERASE | IDENTIFICATION | ENDONUCLEASE-G | Chromatin - metabolism | Mitochondria - enzymology | Oxidative Stress | Glutamic Acid - genetics | Humans | Apoptosis - genetics | Macrophage Migration-Inhibitory Factors - metabolism | Deoxyribonucleases - metabolism | Stroke - genetics | Cell Nucleus - enzymology | Macrophage Migration-Inhibitory Factors - genetics | Base Sequence | DNA Fragmentation | DNA Damage - genetics | Macrophage Migration-Inhibitory Factors - chemistry | Active Transport, Cell Nucleus | Intramolecular Oxidoreductases - metabolism | Nucleic Acid Conformation | Apoptosis Inducing Factor - metabolism | Deoxyribonucleases - chemistry | Amino Acid Sequence | Catalytic Domain | Intramolecular Oxidoreductases - chemistry | DNA, Single-Stranded - metabolism | Poly (ADP-Ribose) Polymerase-1 - metabolism | Apoptosis Inducing Factor - genetics | Mice, Knockout | Stroke - enzymology | Deoxyribonucleases - genetics | Animals | Intramolecular Oxidoreductases - genetics | Neurons - enzymology | Mice | HeLa Cells | Mutation | Glutamic Acid - toxicity | DNA Cleavage | Glutamic Acid - chemistry | Polymerase chain reaction | DNA damage | Cells | Cell death | Deoxyribonucleic acid | Activation | Nuclease | Inhibition | Damage accumulation | Nuclei | Diseases
Journal Article