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humans (5) 5
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Nature Medicine, ISSN 1078-8956, 04/2007, Volume 13, Issue 4, pp. 439 - 447
Journal Article
Journal Article
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 1/2006, Volume 172, Issue 3, pp. 469 - 478
The central nervous system (CNS) of terrestrial vertebrates underwent a prominent molecular change when a tetraspan membrane protein, myelin proteo-lipid... 
Axons | Proteolipids | Myelin | Neurons | Central nervous system | Nerves | Periodicity | Schwann cells | Optics | Mice | LOCALIZATION | PROTEOLIPID PROTEIN GENE | MULTIPLE-SCLEROSIS | CNS MYELIN | MAJOR STRUCTURAL PROTEIN | AXONAL-TRANSPORT | SCHWANN-CELLS | RAT-BRAIN | MESSENGER-RNA LEVELS | DEGENERATION | CELL BIOLOGY | Oligodendroglia - metabolism | Central Nervous System - metabolism | Spinal Cord - metabolism | Gene Expression - genetics | Central Nervous System - pathology | Promoter Regions, Genetic - genetics | Myelin Sheath - metabolism | Myelin Basic Protein - genetics | Exercise Test | Spinal Cord - pathology | X-Ray Diffraction | Amyloid beta-Protein Precursor - metabolism | Myelin Proteolipid Protein - metabolism | Sodium Channels - metabolism | Cell Adhesion Molecules, Neuronal - metabolism | Optic Nerve - chemistry | Phosphoric Diester Hydrolases - metabolism | Myelin Basic Protein - metabolism | Myelin Sheath - pathology | Axons - metabolism | Receptors, Cell Surface - metabolism | Mice, Transgenic | Longevity - genetics | Microscopy, Electron | Mice, Knockout | Motor Activity - genetics | 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase | Animals | Myelin Proteolipid Protein - genetics | Myelin-Associated Glycoprotein | Axons - pathology | Survival Analysis | Myelin P0 Protein - genetics | Myelin Sheath - ultrastructure | Central Nervous System - physiopathology | Myelin P0 Protein - metabolism | Evolution, Molecular | Vertebrates | Genetic aspects | Research | Myelin proteins
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 96, Issue 2, pp. S30 - S30
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 01/2006, Volume 172, Issue 3, p. 469
  The central nervous system (CNS) of terrestrial vertebrates underwent a prominent molecular change when a tetraspan membrane protein, myelin proteolipid... 
Proteins | Rodents | Nervous system | Genetic engineering
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 01/2006, Volume 172, Issue 3, pp. 469 - 478
The central nervous system (CNS) of terrestrial vertebrates underwent a prominent molecular change when a tetraspan membrane protein, myelin proteolipid... 
Journal Article
Neurochemistry International, ISSN 0197-0186, 2008, Volume 52, Issue 6, pp. 1125 - 1133
Sandhoff disease involves the CNS accumulation of ganglioside GM2 and asialo-GM2 (GA2) due to inherited defects in the β-subunit gene of β-hexosaminidase A and... 
Neurodegenerative disease | Gangliosidosis | Substrate reduction therapy (SRT) | Glycosphingolipids | β-Hexosaminidase | GM2 | neurodegenerative disease | gangliosidosis | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | THIN-LAYER CHROMATOGRAPHY | LYSOSOMAL STORAGE DISEASES | SUBSTRATE REDUCTION THERAPY | HUMAN TAY-SACHS | NEUROSCIENCES | MOUSE MODELS | GLYCOSPHINGOLIPID BIOSYNTHESIS | DEPRIVATION THERAPY | beta-hexosaminidase | substrate reduction therapy (SRT) | ACID BETA-GALACTOSIDASE | glycosphingolipids | I GAUCHER-DISEASE | Brain Chemistry - drug effects | Nerve Degeneration - physiopathology | Sandhoff Disease - metabolism | G(M2) Ganglioside - metabolism | Brain - metabolism | 1-Deoxynojirimycin - therapeutic use | Neuraminidase - drug effects | beta-Hexosaminidase alpha Chain - genetics | Nerve Degeneration - prevention & control | Sandhoff Disease - drug therapy | Gangliosides - metabolism | 1-Deoxynojirimycin - analogs & derivatives | Disease Models, Animal | Animals, Newborn | Brain - physiopathology | Neuraminidase - metabolism | Treatment Outcome | Down-Regulation - drug effects | Brain Chemistry - physiology | Mice, Knockout | Brain - drug effects | Down-Regulation - physiology | Sandhoff Disease - physiopathology | 1-Deoxynojirimycin - pharmacology | Animals | G(M2) Ganglioside - genetics | Glycosphingolipids - metabolism | Mice | Nerve Degeneration - drug therapy | Infants (Newborn) | Physiological aspects | Gangliosides
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2016, Volume 8, Issue C, pp. 48 - 50
Correlations between angiotensin-converting enzyme ( ) genotype (I/I, I/D, D/D), disease severity at baseline and response to enzyme replacement therapy (ERT)... 
Pompe disease | Angiotensin-converting enzyme | Alglucosidase alfa | Enzyme replacement therapy | Gene polymorphism | GENOTYPE-PHENOTYPE CORRELATION | INSERTION DELETION POLYMORPHISM | SKELETAL-MUSCLE | DISEASE | GENETICS & HEREDITY | REPLACEMENT THERAPY
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 06/2010, Volume 113, Issue 6, pp. 1525 - 1535
J. Neurochem. (2010) 113, 1525–1535. Sandhoff disease is an autosomal recessive, neurodegenerative disease involving the storage of brain ganglioside GM2 and... 
GA2 | ketogenic diet | lysosomal storage disease | GM2 | Sandhoff disease | ganglioside | Ganglioside | Lysosomal storage disease | Ketogenic diet | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | LYSOSOMAL STORAGE | THIN-LAYER CHROMATOGRAPHY | NEUROSCIENCES | MOUSE MODELS | AUDIOGENIC-SEIZURES | GANGLIOSIDE CONTENT | KETONE-BODIES | CEREBELLAR-ATAXIA | CALORIC RESTRICTION | GAUCHERS-DISEASE | Chromatography, High Pressure Liquid - methods | Sandhoff Disease - pathology | Body Weight - drug effects | G(M2) Ganglioside - metabolism | Myelin Sheath - metabolism | Brain - metabolism | 1-Deoxynojirimycin - therapeutic use | Sandhoff Disease - drug therapy | 1-Deoxynojirimycin - analogs & derivatives | beta-N-Acetylhexosaminidases - genetics | Brain - cytology | Purkinje Cells - metabolism | 3-Hydroxybutyric Acid - blood | Chromatography, Thin Layer - methods | Diet, Ketogenic - methods | Mice, Knockout | beta-N-Acetylhexosaminidases - deficiency | Blood Glucose - drug effects | Brain - drug effects | Sandhoff Disease - diet therapy | Eating - drug effects | Animals | Analysis of Variance | Lipid Metabolism - drug effects | Mice | Purkinje Cells - pathology | Physiological aspects | Nervous system diseases | Gangliosides | Analysis | Organic acids | Biochemistry | Genetic disorders | Diet | Rodents | Neurological disorders
Journal Article
Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 11/2005, Volume 64, Issue 11, pp. 976 - 990
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 05/2008, Volume 49, Issue 5, pp. 929 - 938
Journal Article