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The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 727 - 734
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2018, Volume 20, Issue 2, pp. 259 - 268
Purpose: SLC39A8 deficiency is a severe inborn error of metabolism that is caused by impaired function of manganese metabolism in humans. Mutations in SLC39A8... 
Parkinsonism | Therapy | Congenital disorder of glycosylation | Manganese | congenital disorder of glycosylation | HOMEOSTASIS | TRANSPORTER | therapy | CITRATE | GENETICS & HEREDITY | CONGENITAL DISORDER | GLYCOSYLATION | MUTATIONS | manganese | BLOOD-BRAIN-BARRIER | Metabolism | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1371 - 1375
Accurate glycosylation of proteins is essential for their function and their intracellular transport. Numerous diseases have been described, where either... 
glycosylation | COPI | intracellular traffic | ARCN1 | TRANSPORT | TRAPP | GENETICS & HEREDITY | DISORDER | GOLGI | IDENTIFICATION | DEFICIENCY | Proteins | Protein biosynthesis | Genetic aspects | Analysis | Phenotypes | Glycosylation | Coat protein | Intracellular | Mutation | Retrograde transport | Endoplasmic reticulum | Anterograde transport | Golgi apparatus
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 12/2017, Volume 214, Issue 12, pp. 3707 - 3729
The biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which... 
MEDICINE, RESEARCH & EXPERIMENTAL | RENIN/PRORENIN RECEPTOR | ENDOSOMAL TRAFFICKING | PRORENIN RECEPTOR | DROSOPHILA OPTIC LOBE | ABNORMAL PROTEIN GLYCOSYLATION | CONGENITAL DISORDERS | COGNITIVE IMPAIRMENT | ENDOPLASMIC-RETICULUM | IMMUNOLOGY | VACUOLAR H+-ATPASE | DEFICIENCY CAUSES | Endoplasmic Reticulum-Associated Degradation | Vacuolar Proton-Translocating ATPases - genetics | Brain - embryology | Liver - pathology | Humans | Liver Diseases - pathology | Infant | Male | Psychomotor Disorders - complications | Blood Proteins - metabolism | Drosophila Proteins - metabolism | Neural Stem Cells - cytology | Autophagy | Drosophila melanogaster - metabolism | Proton-Translocating ATPases - metabolism | Young Adult | Lipids - chemistry | Genes, X-Linked | Proton-Translocating ATPases - genetics | Base Sequence | Cutis Laxa - complications | Liver Diseases - complications | Receptors, Cell Surface - chemistry | Membrane Proteins - metabolism | Amino Acid Sequence | Membrane Proteins - genetics | Proton-Translocating ATPases - deficiency | Psychomotor Disorders - pathology | Receptors, Cell Surface - metabolism | Glycosylation | Fibroblasts - pathology | Mutation - genetics | Animals | Receptors, Cell Surface - deficiency | Vacuolar Proton-Translocating ATPases - chemistry | Adolescent | Brain - pathology | Protein Binding | Mice | Protein Processing, Post-Translational | Drosophila Proteins - genetics | Vacuolar Proton-Translocating ATPases - deficiency | Cutis Laxa - pathology | Neural Stem Cells - metabolism | Receptors, Cell Surface - genetics | TOR protein | Liver | Impairment | Acidification | Serum proteins | Defects | Proteins | Missense mutation | Renin | Rodents | Evolution | Lipid metabolism | Fat body | Assembly | H+-transporting ATPase | Liver diseases | Drosophila | Immunodeficiency | Rapamycin | Metabolism | Signaling | Skin | Mutation | Auditory defects | Endoplasmic reticulum | Adenosine triphosphatase | Phagocytosis | 316 | 310 | 321
Journal Article
The Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 05/2017, Volume 169, p. 54
Niemann-Pick type C (NPC) is a neurological disease caused by an intracellular cholesterol accumulation. Cholesterol oxidation product... 
Niemann-Pick disease | Xanthomatosis | Laboratories | Carbon tetrachloride | Mass spectroscopy | Silica | Chromatography | Cholesterol | Studies | Gas chromatography | Hospitals | Biomarkers | Oxidation | Diagnosis | Mass spectrometry | Silicones | Neurological disorders | DNA sequencing | Stationary phase
Journal Article
Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 05/2017, Volume 169, p. 54
* Simple and inexpensive diagnostic tool for routine hospital laboratory. * Serum cholestane-3[beta],5[alpha],6[beta]-triol as an biomarker for NPC diagnosis. 
Mass spectrometry | Chromatography | Steroids | Gas chromatography | Nervous system diseases | Analysis | Carbon tetrachloride | Nucleotide sequencing | High performance liquid chromatography | DNA sequencing
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S98 - S98
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
Brain : a journal of neurology, ISSN 0006-8950, 07/2019, Volume 142, Issue 8, pp. 2230 - 2237
Superoxide dismutase 1 (SOD1) is the principal cytoplasmic superoxide dismutase in humans and plays a major role in redox potential regulation. It catalyses... 
Journal Article