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neuronal ceroid-lipofuscinoses - genetics (113) 113
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juvenile neuronal ceroid lipofuscinosis (26) 26
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Journal Article
Journal Article
Bioscience Reports, ISSN 0144-8463, 12/2017, Volume 37, Issue 6, p. BSR20171229
Juvenile CLN3 (Batten) disease, a fatal, childhood neurodegenerative disorder, results from mutations in the CLN3 gene encoding a lysosomal/endosomal... 
DILEUCINE MOTIF | ENDOCYTIC PATHWAY | CANCER CELLS | CLN3(-/-) MICE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ORTHOLOGUE | TRAFFICKING | MEMBRANE GLYCOPROTEIN | GENE CLN3 | EXPRESSION | NEURONAL CEROID-LIPOFUSCINOSIS | CELL BIOLOGY | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e66203 - e66203
Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative disorder caused by mutations in the... 
GREEN FLUORESCENT PROTEIN | IN-VITRO | DILEUCINE MOTIF | GENE | HEAT-SHOCK FACTOR | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | MEMBRANE GLYCOPROTEIN | BINDING PROTEIN | MAMMALIAN-CELLS | NEURONAL CEROID-LIPOFUSCINOSIS | Adaptation, Physiological | Osmotic Pressure | Up-Regulation | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Humans | Transcriptional Activation | Ubiquitin C - genetics | Stress, Physiological | RNA, Messenger - metabolism | Endosomes - metabolism | Cloning, Molecular | Ubiquitin C - metabolism | Cell Line | Promoter Regions, Genetic | Cricetinae | Gene Expression | RNA, Messenger - genetics | Molecular Chaperones - genetics | Glycosylation | Membrane Glycoproteins - genetics | Protein Transport | Animals | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Ubiquitin | Viral antibodies | Antibodies | Nervous system diseases | Genetic aspects | RNA | Cell culture | Transcription factors | Sucrose | Syngeneic grafts | Genomics | Genes | Childrens health | Lysosomes | mRNA | Myc protein | Western blotting | Osmotic stress | Proteins | CLN3 protein | Neuronal ceroid lipofuscinosis | Children | Localization | Sugars | Stresses | Medical research | Cytomegalovirus | Immunoglobulins | Caveolae | Osmolarity | Neurodegenerative diseases | Cloning | Osmoregulation | Sodium chloride | Cholesterol | Stress | Golgi apparatus | Children & youth | Urea | Low density lipoprotein receptors | Mutation | Osmotic pressure | Position (location) | Cellular structure | Kidney transplantation | Endosomes | Index Medicus
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 11/2017, Volume 118, Issue 11, pp. 3883 - 3890
CLN3 is a lysosomal/endosomal transmembrane protein but its precise function is not completely known. In the present study, we analyzed the consequences of... 
CATHEPSIN D | SAPOSINS | HYPEROSMOLARITY | PROSAPOSIN | BATTEN DISEASE | NEURONAL CEROID LIPOFUSCINOSES | CLN3 DISEASE | CELLS | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | SAPOSIN-A | CELL BIOLOGY | JUVENILE BATTEN-DISEASE | PATHWAY | DEGRADATION | MUTATIONS | NEURONAL CEROID-LIPOFUSCINOSIS | Cell Line | Cricetinae | Lysosome-Associated Membrane Glycoproteins - metabolism | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Humans | Lysosomes - genetics | Molecular Chaperones - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Saposins - genetics | Cathepsin D - metabolism | Neuronal Ceroid-Lipofuscinoses - pathology | Membrane Glycoproteins - genetics | Saposins - metabolism | Animals | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Cathepsin D - genetics | Lysosome-Associated Membrane Glycoproteins - genetics | Lysosomes - pathology | Cathepsins | Physiological aspects | Nervous system diseases | Analysis | Neurodegenerative diseases | Syngeneic grafts | Lysosomes | mRNA | Myc protein | Gene expression | Metabolism | Cofactors | Protein turnover | Western blotting | Membrane proteins | Proteins | CLN3 protein | Proteolysis | Cathepsin D | Neuronal ceroid lipofuscinosis | Children | Lipid metabolism | Mutation | Osmotic pressure | Kidney transplantation | Index Medicus | prosaposin | CLN3 disease | cathepsin D | Neuronal Ceroid Lipofuscinoses | hyperosmolarity | saposins | Batten disease
Journal Article
Journal Article
Cell Cycle, ISSN 1538-4101, 02/2009, Volume 8, Issue 4, pp. 647 - 654
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2016, Volume 131, Issue 4, pp. 621 - 637
Journal Article
Current Genomics, ISSN 1389-2029, 04/2008, Volume 9, Issue 2, pp. 115 - 136
The Neuronal Ceroid Lipofuscinoses (NCLs) are the most common group of neurodegenerative disorders of childhood. While mutations in eight different genes have... 
SYNTHASE SUBUNIT-C | LYSOSOMAL STORAGE DISEASE | JANSKY-BIELSCHOWSKY DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMAUROTIC FAMILY IDIOCY | GENETICS & HEREDITY | BATTEN-DISEASE | ENDOPLASMIC-RETICULUM | CLN3 PROTEIN | TRIPEPTIDYL-PEPTIDASE-I | NEURONAL CEROID-LIPOFUSCINOSIS | CATHEPSIN-D DEFICIENCY
Journal Article