Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: Functional implications for CLN3

Molecular Genetics and Metabolism

Volumn 71, Issue 1-2, 2000, Pages 207-211

  Chattopadhyay, Subrata ^a   Pearce, David A ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

Batten disease; CLN1; CLN2; CLN3; Gene expression; Neurodegeneration; Neuronal ceroid lipofuscinoses

Indexed keywords

CEROID; GENE PRODUCT; LIPOFUSCIN; MESSENGER RNA; THIOL ESTER HYDROLASE;

DEGENERATIVE DISEASE; DISEASE CLASSIFICATION; GENE EXPRESSION; GENE FUNCTION; HUMAN; HUMAN TISSUE; NEURONAL CEROID LIPOFUSCINOSIS; PATHOGENESIS; PRIORITY JOURNAL; RNA ANALYSIS; SHORT SURVEY; TISSUE DISTRIBUTION;

EID: 0033813568     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3056     Document Type: Article

References (22)

1. The neuronal ceroid-lipofuscinoses
2. Evidence for lipase abnormality: High levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinosis tissue
3. Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies
4. Morphological and histochemical studies of neurolipidosis by light and electron microscopy
5. The neuronal ceroid lipofuscinosis
6. The adult and a new late adult forms of neuronal ceroid lipofuscinosis
7. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)
8. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten Disease)
9. Specific delay of degradation of mitochondrial atp synthase sub-unit c in late infantile neuronal ceroid lipofuscinosis (Batten Disease)
10. Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c
11. Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten Disease)
12. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's Disease)
13. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
14. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofusinosis
15. The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3
16. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinoses
17. The neuronal ceroid lipofuscinoses in human EPMR and mnd mtant mice are associated with mutations in CLN8
18. Molecular cloning and expression of palmitoyl-protein thiolesterase
19. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
20. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
21. Batten Disease: Evaluation of CLN3 mutations on protein localization and function
22. Action of Btnlp, the yeast orthologue of the gene mutated in Batten Disease