CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis

Genes to Cells

Volumn 7, Issue 6, 2002, Pages 597-605

  Yoshikawa, Momono ^a   Uchida, Shinichi ^a   Ezaki, Junji ^b   Rai, Tatemitsu ^a   Hayama, Atsushi ^a   Kobayashi, Katsuki ^a   Kida, Yujiro ^a   Noda, Masaki ^a   Koike, Masato ^c   Uchiyama, Yasuo ^c   Marumo, Fumiaki ^a   Kominami, Eiki ^b   Sasaki, Sei ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b JUNTENDO UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CATHEPSIN D; CELL PROTEIN; CEROID; CHLORIDE CHANNEL; LIPOFUSCIN; MEMBRANE PROTEIN; PROTEIN CLC 3; UNCLASSIFIED DRUG; CLC 3 CHANNEL; CLC-3 CHANNEL; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BLINDNESS; BRAIN DEGENERATION; CONTROLLED STUDY; ENZYME LOCALIZATION; ENZYME SUBUNIT; GENE DISRUPTION; GENE FUNCTION; GROWTH RETARDATION; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; HYPERACTIVITY; ILEUM MUCOSA; IMMUNOHISTOCHEMISTRY; LYSOSOME; MORTALITY; MOTOR COORDINATION; MOTOR DYSFUNCTION; MOUSE; NERVE DEGENERATION; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DEGRADATION; RETINA DEGENERATION; WESTERN BLOTTING; ANIMAL; DISEASE MODEL; ENDOSOME; GENETICS; GLIA; METABOLISM; MOUSE MUTANT; NERVE CELL; PH; PHYSIOLOGY; ULTRASTRUCTURE;

ANIMAL; CATHEPSIN D; CHLORIDE CHANNELS; DISEASE MODELS, ANIMAL; ENDOSOMES; HIPPOCAMPUS; HUMAN; HYDROGEN-ION CONCENTRATION; LYSOSOMES; MICE; MICE, KNOCKOUT; NEUROGLIA; NEURONAL CEROID-LIPOFUSCINOSIS; NEURONS; PHENOTYPE; PROTON-TRANSLOCATING ATPASES; SUPPORT, NON-U.S. GOV'T; ANIMALS; HUMANS; NEURONAL CEROID-LIPOFUSCINOSES;

ANIMALIA; MAMMALIA;

EID: 0035998271     PISSN: 13569597     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2443.2002.00539.x     Document Type: Article

References (33)

1. Batten's disease: Clues to neuronal protein catabolism in lysosomes
2. Follow-up study of subunit of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
3. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase
4. Pore forming segments in voltage-gated chloride channels
5. The neuronal ceroid-lipofuscinoses
6. The neuronal ceroidlipofuscinoses. Recent advances
7. ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells
8. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)
9. Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
10. Isolation of a novel gene underlying Batten disease, CLN3
11. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten's disease
12. Cloning and expression of a protein kinase C-regulated chloride channel abundantly expressed in rat brain neuronal cells
13. The skeletal muscle chloride channel in dominant and recessive human myotonia
14. Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons
15. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease)
16. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
17. Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel
18. Degradation of serum albumin by rat liver and kidney lysosomes
19. Simple preparation of rat brain lysosomes and their proteolytic properties
20. - channel disruption impairs endocytosis in a mouse model for Dent's disease
21. The neuronal ceroid lipofusinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
22. Mice deficient for the lysosomal proteinase cathpsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells
23. +-ATPase
24. Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis
25. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
26. Tissue-specific N-glycosylation of the ClC-3 chloride channel
27. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
28. Association of mutations in a lysosomal protein with classic late-infantile neuronal ceroid lipofucinosis
29. - accumulation during acidification
30. Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus
31. A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
32. Acidification of rat liver lysosomes: Quantitation and comparison with endosomes
33. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis