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Genomics, ISSN 0888-7543, 02/2019
Genetic changes in Hypoxanthine guanine phosphoribosyltransferace (HPRT1) gene can alter the expression of the dopamine neurotransmitter leads to abnormal... 
Journal Article
Autophagy, ISSN 1554-8627, 12/2014, Volume 10, Issue 12, pp. 2324 - 2332
Autophagy plays a key role in the pathophysiology of schizophrenia as manifested by a 40% decrease in BECN1/Beclin 1 mRNA in postmortem hippocampal tissues... 
HUGO gene nomenclature committee database | Adnp2 (mouse), ADNP2 (human), ADNP homeobox 2 | Becn1 (mouse), BECN1 (human), Beclin 1, autophagy-related | hyperactivity; immunohistochemistry | Map6 (mouse), MAP6 (human), microtubule-associated protein 6 | MGI database | NAP (davunetide); object recognition | real-time PCR | Hprt/Hprt1, hypoxanthine phosphoribosyl transferase | activity-dependent neuroprotector homeobox (ADNP | ADNP, activity-dependent neuroprotector homeobox (human) | microtubule-associated protein 6 (MAP6)/stable tubule only polypeptide (STOP) deficiency | activity-dependent neuroprotective protein (ADNP | Adnp, activity-dependent neuroprotective protein (mouse) | Map1lc3b (mouse), MAP1LC3B (human), microtubule-associated protein 1 light chain 3 β | CLZ, clozapine | Immunohistochemistry | Real-time PCR | Hyperactivity | Activity-dependent neuroprotector homeobox (ADNP, HUGO gene nomenclature committee database) | Microtubule-associated protein 6 (MAP6)/stable tubule only polypeptide (STOP) deficiency | NAP (davunetide) | Activity-dependent neuroprotective protein (ADNP, MGI database) | Object recognition | DEPENDENT NEUROPROTECTIVE PROTEIN | STOP KNOCKOUT | ADNP-FAMILY | PEPTIDE | DAVUNETIDE | CELL BIOLOGY | NAP (davunetide);object recognition | INTERACTS | activity-dependent neuroprotector homeobox (ADNP, HUGO gene nomenclature committee database) | activity-dependent neuroprotective protein (ADNP, MGI database) | MICE | STOP/MAP6 | NAP | BRAIN | Brain - drug effects | Brain - metabolism | Nerve Tissue Proteins - metabolism | Microtubules - metabolism | Schizophrenia - metabolism | Animals | Microtubule-Associated Proteins - metabolism | Behavior, Animal - physiology | Mice, Transgenic | Autophagy - physiology | Neuroprotective Agents - metabolism | Disease Models, Animal
Journal Article
Nucleosides, Nucleotides and Nucleic Acids, ISSN 1525-7770, 11/2017, Volume 36, Issue 11, pp. 704 - 711
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 353 - 360
Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of... 
hypoxanthine-guanine phosphoribosyltransferase | HPRT1 | macrocytic anemia | Lesch–Nyhan disease | megaloblastic anemia | CELLS | ACID | BONE-MARROW | ATTENUATED VARIANTS | IRON-DEFICIENCY | MODEL | SEIZURES | GENETICS & HEREDITY | HPRT DEFICIENCY | SPECTRUM | Lesch-Nyhan disease
Journal Article
Oncotarget, ISSN 1949-2553, 2018, Volume 9, Issue 2, pp. 2268 - 2278
Acute lymphoblastic leukemia (ALL) is an aggressive hematological tumor resulting from the malignant transformation of lymphoid progenitors. Thiopurine is a... 
HPRT1 mutation | Drug resistance | Leukemia | Thiopurine | Purine metabolism | leukemia | CELLS | purine metabolism | thiopurine | ACQUIRED-RESISTANCE | CANCER | CHILDHOOD | DEFICIENCY | CELL BIOLOGY | MERCAPTOPURINE | THERAPY | ACUTE LYMPHOBLASTIC-LEUKEMIA | drug resistance | MUTATIONS
Journal Article
Journal Article
Computers in Biology and Medicine, ISSN 0010-4825, 04/2019, Volume 107, pp. 161 - 171
Journal Article
Cardiovascular Pathology, ISSN 1054-8807, 2015, Volume 25, Issue 2, pp. 103 - 112
Abstract Mitochondrial (mt) DNA depletion and oxidative mtDNA damage have been implicated in the process of pathological cardiac remodeling. Whether these... 
Pathology | Mitochondrial cardiomyopathy | Oxidative stress | mtDNA depletion | Mitochondrial biogenesis | Cardiac remodeling | Myocardial hypertrophy | TARGET | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOMYOPATHY | TRANSCRIPTION | INDUCTION | PATHOLOGY | PENETRANCE | FAILING HEART | DISEASE | GROWTH | CONTRIBUTES | RIGHT-VENTRICULAR HYPERTROPHY | Microscopy, Electron, Transmission | DNA, Mitochondrial - metabolism | Humans | Middle Aged | Oxidative Stress - physiology | Laser Capture Microdissection | Male | Heart Failure - pathology | Ventricular Remodeling - physiology | Blotting, Western | Organelle Biogenesis | Hypertrophy, Left Ventricular - pathology | Myocardial Ischemia - complications | Adult | Female | Aged | Heart Failure - etiology | Real-Time Polymerase Chain Reaction | Heart failure | Proteins | Biosynthesis | Mitochondrial DNA | Ischemia | Hypertrophy | PGC-1α, peroxisome proliferator-activated receptor gamma coactivator 1 alpha, PPARGC1A | SDS-PAGE, sodiumdodecylsulphate–polyacrylamide gel electrophoresis | PPARα, peroxisome proliferator-activated receptor alpha PPARA | PVDF, polyvinylidene fluoride | NRF1, nuclear respiratory factor 1 | OXPHOS, oxidative phosphorylation | CAT, catalase | HF, heart failure | SOD2, superoxide dismutase 2 | mtDNA, mitochondrial DNA | GPx, glutathione peroxidase | LCM, laser capture microdissection | COX, cytochrome c oxidase | HPRT1, hypoxanthine phosphoribosyltransferase 1 | MIC, mitochondrial cardiomyopathies | NPPA, natriuretic peptide A | POLG, polymerase (DNA directed) gamma | SDH, succinate dehydrogenase | TEM, transmission electron microscopy | LV, left ventricular | DNPH, 2,4-dinitrophenylhydrazine | DNP, antidinitrophenyl | NADPH, nicotinamide adenine dinucleotide phosphate | ERRα, estrogen-related receptor alpha ESRRA | MDA, malondialdehyde | TFAM, mitochondrial transcription factor A | Original
Journal Article