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Current medicinal chemistry, 05/2018
Significant metabolic changes occur in inflammation to respond to the new energetic needs of cells. Mitochondria are addressed not only to produce ATP, but... 
Journal Article
BBA - Bioenergetics, ISSN 0005-2728, 07/2014, Volume 1837, pp. e113 - e114
Journal Article
Journal of Bioenergetics and Biomembranes, ISSN 0145-479X, 06/2012, Volume 44, Issue 3, p. 333
The peroxisomal protein PXN encoded by the Arabidopsis gene At2g39970 has very recently been found to transport NAD.sup.+, NADH, AMP and ADP. In this work we... 
Arabidopsis thaliana | Phosphates | Enzymes | Thiols | Arabidopsis | Bacteria | Adenylic acid
Journal Article
Data in Brief, ISSN 2352-3409, 06/2016, Volume 7, Issue C, pp. 1355 - 1357
The data reported herein are related to the article entitled: “The switching mechanism of the mitochondrial ADP/ATP carrier explored by free-energy landscapes”... 
Transport mechanism | Molecular dynamics | Mitochondria | AAC | Mitochondrial carrier | AAC conformational states
Journal Article
Journal of Bioenergetics and Biomembranes, ISSN 0145-479X, 06/2012, Volume 44, Issue 3, p. 333
The peroxisomal protein PXN encoded by the Arabidopsis gene At2g39970 has very recently been found to transport NAD^sup +^, NADH, AMP and ADP. In this work we... 
Proteins | Enzymes | Yeast | Substrates
Journal Article
Pharmacology Research & Perspectives, 02/2016, Volume 4, Issue 1
Therapeutic monoclonal antibodies (mAbs) have high efficacy in treating TNF[alpha]-related immunological diseases. Other than neutralizing TNF[alpha], these... 
Immunoglobulins | Immunology | Cytotoxicity
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2019, Volume 105, Issue 1, pp. 48 - 64
We report biallelic missense and frameshift pathogenic variants in the gene encoding human nucleoporin NUP214 causing acute febrile encephalopathy. Clinical... 
Physiological aspects | Genetic aspects | Research | Nucleoproteins | Encephalopathy | Risk factors
Journal Article
Biochemical Journal, ISSN 0264-6021, 07/2014, Volume 461, Issue 2, pp. 305 - 314
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 07/2018, Volume 19, Issue 7, p. 1825
The Escherichia coli protein toxin cytotoxic necrotizing factor 1 (CNF1), which acts on the Rho GTPases that are key regulators of the actin cytoskeleton, is... 
Mitochondrial diseases | Myoclonic epilepsy with ragged red fibers syndrome | Actin cytoskeleton | Cytotoxic necrotizing factor 1 | Adenosine triphosphate | ACTIVATION | cytotoxic necrotizing factor 1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | NECROTIZING FACTOR-1 | SYNAPTIC PLASTICITY | CHEMISTRY, MULTIDISCIPLINARY | FIBROBLASTS | actin cytoskeleton | mitochondrial diseases | MYOCLONIC EPILEPSY | MERRF | myoclonic epilepsy with ragged red fibers syndrome | adenosine triphosphate | MOUSE MODEL | RHO GTPASES | DEAMIDATION | MODULATION | Stress Fibers - drug effects | Humans | Middle Aged | Male | Adenosine Triphosphate - biosynthesis | Mitochondria - ultrastructure | Bacterial Toxins - isolation & purification | Electron Transport Complex IV - metabolism | Stress Fibers - ultrastructure | DNA, Mitochondrial - genetics | MERRF Syndrome - drug therapy | MERRF Syndrome - genetics | Mitochondria - genetics | Membrane Transport Proteins - genetics | Escherichia coli Proteins - pharmacology | Membrane Transport Proteins - metabolism | Fibroblasts - metabolism | Gene Expression | DNA, Mitochondrial - metabolism | MERRF Syndrome - pathology | Receptors, Cell Surface - metabolism | Mitochondria - metabolism | Electron Transport Complex IV - genetics | MERRF Syndrome - metabolism | Mitochondria - drug effects | Escherichia coli - chemistry | Escherichia coli Proteins - isolation & purification | Fibroblasts - pathology | Pilot Projects | Stress Fibers - metabolism | Bacterial Toxins - pharmacology | Fibroblasts - drug effects | Mutation | Primary Cell Culture | Receptors, Cell Surface - genetics | Regulators | Bacterial proteins | Cytotoxic necrotizing factor | Escherichia coli | Epilepsy | Impairment | Homeostasis | Cytotoxicity | Mitochondrial DNA | Cell interactions | Patients | Neurological diseases | Proteins | Energy balance | MERRF Syndrome | Actin | Morphology | Fibroblasts | Necrotizing factor 1 | Cytoskeleton | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2019, Volume 105, Issue 1, pp. 48 - 64
We report biallelic missense and frameshift pathogenic variants in the gene encoding human nucleoporin NUP214 causing acute febrile encephalopathy. Clinical... 
NUP214 | central channel particles | nuclear pore complex | neurodegeneration | NUP88 | febrile encephalopathy | nucleoporins
Journal Article
Bioorganic & Medicinal Chemistry Letters, ISSN 0960-894X, 09/2017, Volume 27, Issue 17, p. 3980
A series of 1-[(methylsulfonyl)methyl]-2-nitro-5,6,7,8-tetrahydroindolizines and homologs were designed, prepared, and evaluated as non-sugar-type... 
Enzymes | Hydrogen | Analysis
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 179 - 185
Accumulation of unfolded proteins in the endoplasmic reticulum (ER) initiates a stress response mechanism to clear out the unfolded proteins by either... 
microcephaly | epilepsy | ER stress | XBP1 splicing | RNF13 | RING FINGER PROTEIN | APOPTOSIS | ACTIVATION | PHOSPHORYLATION | JNK | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | MUTATIONS | STRESS | E3 UBIQUITIN LIGASE | Genetic variation | Epilepsy | Physiological aspects | Genetic aspects | Research | Microcephaly | Risk factors | Report
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 06/2019, Volume 10, pp. 502 - 502
Journal Article
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