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Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 27 - 32
Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and... 
Pathology | Metabolic disease | Lethal neonatal lactic acidosis | Whole-exome sequencing | Mitochondriopathy | Complex I deficiency | ACAD9 defect | Mitochondrial hyperplasia | Multiorgan failure | DIAGNOSIS | CARDIOMYOPATHY | PATHOLOGY | GENE | DNA | EXPRESSION | Immunohistochemistry | Fibroblasts - enzymology | Diaphragm - pathology | Mitochondria, Heart - pathology | Electron Transport Complex I - deficiency | Humans | Hyperplasia | Male | Cardiomyopathy, Hypertrophic - enzymology | Acyl-CoA Dehydrogenases - genetics | Leigh Disease - pathology | Muscle Weakness - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Autopsy | DNA Mutational Analysis | Electron Transport Complex I - genetics | Fatal Outcome | Muscle Weakness - pathology | Acyl-CoA Dehydrogenases - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Kidney Tubules - pathology | Infant, Newborn | Multiple Organ Failure - pathology | Acyl-CoA Dehydrogenase - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Mitochondria, Liver - pathology | Mitochondria, Heart - enzymology | Fibroblasts - pathology | Leigh Disease - genetics | Acidosis, Lactic - pathology | Cardiomyopathy, Hypertrophic - diagnosis | Mitochondrial Diseases - enzymology | Phenotype | Acyl-CoA Dehydrogenase - deficiency | Kidney Tubules - enzymology | Acidosis - diagnosis | Multiple Organ Failure - enzymology | Acidosis - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Cause of Death | Acidosis, Lactic - enzymology | Amino Acid Metabolism, Inborn Errors - diagnosis | DNA, Mitochondrial - genetics | Muscle Weakness - enzymology | Transfection | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Leigh Disease - enzymology | Cells, Cultured | Multiple Organ Failure - genetics | Codon, Nonsense | Mitochondria, Liver - enzymology | Multiple Organ Failure - diagnosis | Diaphragm - enzymology | Acidosis - pathology | Leigh Disease - diagnosis | Acidosis - enzymology | Mitochondrial Diseases - diagnosis | Acidosis, Lactic - diagnosis | Cardiomyopathy, Hypertrophic - pathology | Infants (Newborn) | Muscles | Genetic aspects | Mitochondrial DNA | Liver | Heart | Urine | Cytochrome | Antigens | Enzymes | Cytomegalovirus | Cardiomyopathy | Defects | Musculoskeletal system | Databases | Rodents | Fibroblasts | Oxidation | Mutation | Metabolic disorders | Deoxyribonucleic acid--DNA
Journal Article
Journal of Histochemistry and Cytochemistry, ISSN 0022-1554, 02/2006, Volume 54, Issue 2, pp. 191 - 199
Journal Article
Human mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1520 - 1525
Genitopatellar syndrome (GPS) and Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct... 
MYST4 | database | genitopatellar syndrome | KAT6B | Ohdo syndrome | Database | Genitopatellar syndrome | BLEPHAROPHIMOSIS | PROTEIN | MENTAL-RETARDATION | ANOMALIES | PHENOTYPE | ACUTE MYELOID-LEUKEMIA | HISTONE ACETYLTRANSFERASE | MORF | GENETICS & HEREDITY | OHDO-SYNDROME | QUERKOPF | Abnormalities, Multiple - pathology | Sequence Deletion | Scrotum - abnormalities | Kidney - pathology | Blepharoptosis - genetics | Histone Acetyltransferases - chemistry | Blepharophimosis - enzymology | Humans | Kidney - enzymology | Psychomotor Disorders - enzymology | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Molecular Sequence Data | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Base Sequence | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Patella - abnormalities | Intellectual Disability - enzymology | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Patella - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Scrotum - enzymology | Genetic Association Studies | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Haploinsufficiency | Patella - pathology | DNA - genetics | Urogenital Abnormalities - pathology | Kidney - abnormalities | Craniofacial Abnormalities - enzymology | Abnormalities, Multiple - enzymology | Mutation | Blepharoptosis - pathology | Databases, Nucleic Acid | Urogenital Abnormalities - genetics | Histones | Medical colleges | Congenital heart disease | Genetic disorders | Kidney diseases | Genes | Ohdo Syndrome | mutation database
Journal Article
Journal Article
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2014, Volume 111, Issue 45, pp. E4878 - E4886
Journal Article
Journal Article
Nature Reviews Cancer, ISSN 1474-175X, 03/2003, Volume 3, Issue 3, pp. 193 - 202
Mitochondrial defects have been associated with neurological disorders, as well as cancers. Two ubiquitously expressed mitochondrial enzymes - succinate... 
RESPIRATORY-CHAIN | SUCCINATE-DEHYDROGENASE | GERM-LINE MUTATIONS | ONCOLOGY | DISEASE PHENOTYPE | HEREDITARY PARAGANGLIOMAS | COMPLEX-II GENE | SACCHAROMYCES-CEREVISIAE | RENAL-CELL CANCER | DNA MUTATIONS | RET PROTOONCOGENE | Mitochondria - enzymology | Protein Subunits | Kidney Neoplasms - genetics | Humans | Mitochondrial Encephalomyopathies - enzymology | Carcinoma, Renal Cell - genetics | Pheochromocytoma - enzymology | Apoptosis - genetics | Oxidoreductases - physiology | Fumarate Hydratase - deficiency | Electron Transport Complex II | Multienzyme Complexes - deficiency | Carcinoma, Renal Cell - enzymology | Neoplastic Syndromes, Hereditary - genetics | Oxidoreductases - deficiency | Paraganglioma - enzymology | Free Radicals | Neovascularization, Physiologic - genetics | Oxidoreductases - genetics | Paraganglioma - genetics | Fumarate Hydratase - physiology | Mitochondrial Encephalomyopathies - genetics | Multienzyme Complexes - genetics | Fumarate Hydratase - genetics | Forecasting | Succinate Dehydrogenase - deficiency | Homozygote | Neovascularization, Physiologic - physiology | Citric Acid Cycle - genetics | Succinate Dehydrogenase - genetics | Energy Metabolism | Kidney Neoplasms - enzymology | Multienzyme Complexes - physiology | Neoplastic Syndromes, Hereditary - enzymology | Heterozygote | Pheochromocytoma - genetics | Apoptosis - physiology | Mutation | Succinate Dehydrogenase - physiology | Leiomyomatosis - enzymology | Leiomyomatosis - genetics | Enzymes | Mitochondria | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Cancer
Journal Article
Kidney international, ISSN 0085-2538, 07/2006, Volume 70, Issue 1, pp. 88 - 96
Ceramide-activated NAD(P)H oxidase has been reported to participate in homocysteine (Hcys)-induced abnormal metabolism of the extracellular matrix (ECM) in rat... 
homocysteine | kidney | end-stage renal disease | sphingolipid | oxidative stress | Sphingolipid | End-stage renal disease | Oxidative stress | Homocysteine | Kidney | NADPH OXIDASE | ACTIVATION | ENDOTHELIAL DYSFUNCTION | ATHEROSCLEROSIS | IDENTIFICATION | DIFFERENTIAL REGULATION | UROLOGY & NEPHROLOGY | EXTRACELLULAR-MATRIX | TIMP-1 EXPRESSION | CELL | Enzyme Inhibitors | Fatty Acids, Monounsaturated - pharmacology | NADPH Oxidases - metabolism | RNA, Messenger - analysis | rac GTP-Binding Proteins - metabolism | Kidney Diseases - enzymology | RNA, Messenger - metabolism | rac GTP-Binding Proteins - antagonists & inhibitors | Tissue Inhibitor of Metalloproteinase-1 - metabolism | Acetophenones - pharmacology | Matrix Metalloproteinase 1 - genetics | Hyperhomocysteinemia - enzymology | Kidney Glomerulus - enzymology | Hyperhomocysteinemia - pathology | Ceramides - metabolism | Oxidation-Reduction | Kidney Diseases - pathology | Kidney Glomerulus - drug effects | NADPH Oxidases - antagonists & inhibitors | Homocysteine - blood | Rats | Ceramides - analysis | Kidney Glomerulus - pathology | Rats, Sprague-Dawley | Extracellular Matrix - enzymology | Tissue Inhibitor of Metalloproteinase-1 - genetics | Animals | Signal Transduction - drug effects | Kidney Cortex - chemistry | Enzyme Activation | Kidney Diseases - etiology | Matrix Metalloproteinase 1 - metabolism | Hyperhomocysteinemia - complications | Kidney Cortex - enzymology
Journal Article
Neuroscience, ISSN 0306-4522, 2016, Volume 343, pp. 355 - 363
Highlights • GCDH is widely expressed in embryonic and adult rat tissues. • A high GCDH expression in embryonic rat brain suggests an important role in brain... 
Neurology | expression | central and peripheral nervous system | glutaryl-CoA-dehydrogenase | embryonic development | glutaric aciduria type-I | rat tissues | 3-HYDROXYGLUTARIC ACID | MITOCHONDRIA | AXONAL-TRANSPORT | ORGANIC-ACIDS | NEUROSCIENCES | DEFICIENCY | MOUSE MODEL | ACIDURIA TYPE-I | ACIDEMIA TYPE-I | PART 2 | TYPE-1 | Glutaryl-CoA Dehydrogenase - metabolism | Liver - enzymology | Kidney - enzymology | Brain - enzymology | Neurons - cytology | Peripheral Nervous System - growth & development | Brain - growth & development | Lung - cytology | Liver - growth & development | Peripheral Nervous System - cytology | Intestinal Mucosa - growth & development | Lung - enzymology | Intestinal Mucosa - cytology | Intestinal Mucosa - enzymology | Female | Neurons - metabolism | Peripheral Nervous System - enzymology | Epithelial Cells - cytology | Glutaryl-CoA Dehydrogenase - genetics | Brain - cytology | Muscle Development - physiology | Kidney - growth & development | Kidney - cytology | Rats, Sprague-Dawley | Mice, Knockout | Animals | Muscles - enzymology | Epithelial Cells - enzymology | Fluorescent Antibody Technique | Liver - cytology | Lung - growth & development | Microscopy, Fluorescence | Muscles - cytology | Brain | Enzymes | Embryonic development | Neurons | Islamic law | Tryptophan | Albumin | Skin | Movement disorders
Journal Article
Cell Cycle, ISSN 1551-4005, 2012, Volume 11, Issue 20, pp. 3861 - 3875
In addition to their role in motility, eukaryotic cilia serve as a distinct compartment for signal transduction and regulatory sequestration of biomolecules.... 
membrane | tubulin-tyrosine ligase | origin of eukaryotes | ciliogenesis | transglutaminase-like | Y-shaped linkers | evolution | transition zone | ciliopathy | Binding | Proteins | Landes | Calcium | Bioscience | Biology | Cell | Cycle | Cancer | Organogenesis | Ciliopathy | Ciliogenesis | Evolution | Membrane | Transglutaminase-like | Transition zone | Tubulin-tyrosine ligase | Origin of eukaryotes | PORE COMPLEX | PRIMARY CILIUM | CELL BIOLOGY | CELL-DIVISION | COMPARATIVE GENOMICS | PLASMODIUM-FALCIPARUM | CAUSE JOUBERT-SYNDROME | MECKEL-SYNDROME | TUBULIN HOMOLOG TUBZ | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Epithelial Cells - metabolism | Eye Abnormalities - enzymology | Peptide Hydrolases - genetics | Ciliary Motility Disorders - enzymology | Humans | Molecular Sequence Data | Transglutaminases - genetics | Cell Membrane - genetics | Phylogeny | Cerebellum - abnormalities | Cerebellar Diseases - enzymology | Retinitis Pigmentosa | Retina - enzymology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Epithelial Cells - cytology | Encephalocele - enzymology | Kidney Diseases, Cystic - enzymology | Transglutaminases - chemistry | Encephalocele - genetics | Peptide Hydrolases - metabolism | Protein Structure, Tertiary | Amino Acid Sequence | Bardet-Biedl Syndrome - enzymology | Abnormalities, Multiple | Eye Abnormalities - genetics | Cilia - metabolism | Peptide Hydrolases - chemistry | Cilia - genetics | Biological Evolution | Sequence Homology, Amino Acid | Cell Membrane - enzymology | Sequence Alignment | Animals | Cerebellar Diseases - genetics | Transglutaminases - metabolism | Retina - abnormalities | Polycystic Kidney Diseases - enzymology | Mutation | Kidney Diseases, Cystic - congenital | Ciliary Motility Disorders - genetics | Report
Journal Article
American journal of physiology. Heart and circulatory physiology, ISSN 1522-1539, 2007, Volume 293, Issue 6, pp. H3227 - H3245
Journal Article