Juvenile neuronal ceroid lipofuscinoses

Advances in Experimental Medicine and Biology

Volumn 724, Issue , 2012, Pages 138-142

  Wang, Shiyao ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CASPASE; DIAZEPAM; HALOPERIDOL; LITHIUM; NITRIC OXIDE; CHAPERONE; CLN3 PROTEIN, HUMAN; MEMBRANE PROTEIN;

APOPTOSIS; ARTICLE; AUTOPHAGY; CELL MEMBRANE; CELL PH; CLINICAL FEATURE; CLN3 GENE; DEPRESSION; DIET SUPPLEMENTATION; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; ENZYME REPLACEMENT; GENE; GENE DELETION; GENE THERAPY; HISTOPATHOLOGY; HUMAN; LYSOSOME; MEMBRANE PERMEABILITY; MITOCHONDRIAL MEMBRANE; MOLECULARLY TARGETED THERAPY; NEURONAL CEROID LIPOFUSCINOSIS; OXIDATIVE STRESS; PALLIATIVE THERAPY; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS; SEIZURE; STEM CELL TRANSPLANTATION; WECHSLER INTELLIGENCE SCALE; GENETICS; PATHOLOGY; REVIEW;

HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; NEURONAL CEROID-LIPOFUSCINOSES;

EID: 84859547036     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0653-2_11     Document Type: Article

References (20)

1. HaltiaM. The neuronal ceroid-lipofuscinoses: from past to present. BiochimBiophys Acta 2006; 1762:850-856.
2. Santavuori P, Lauronen L, Kirveskari K et al. Neuronal ceroid lipofuscinoses in childhood. Suppl Clin Neurophysiol 2000; 53:443-451.
3. Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009; 1793:697-709.
4. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003; 62:1-13.
5. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell 1995; 82:949-957.
6. MIM ID. *607042 CLN3 GENE; CLN3: http://www.ncbi.nlm.nih.gov/omim/ 607042
7. Mitchison HM, Munroe PB, O'Rawe AM et al. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 1997;40:346-350.
8. Lee RL, Johnson KR, Lerner TJ. Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics 1996;35:617-619.
9. Narayan SB, Rakheja D, Tan L et al. CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol 2006; 60:570-577.
10. Luiro K, Yliannala K, Ahtiainen L et al. Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum Mol Genet 2004; 13:3017-3027.
11. Ramirez-Montealegre D, Pearce DA. Defective lysosomal arginine transport in juvenile Batten disease. Hum Mol Genet 2005; 14:3759-3773.
12. Hobert JA, Dawson G. A novel role of the Batten disease gene CLN3: association with BMP synthesis. Biochem Biophys Res Commun 2007; 358:111-116.
13. Tuxworth RI, Vivancos V, O'Hare MB et al. Interactions between thejuvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. Hum Mol Genet 2009; 18:667-678.
14. Wang SY, Jin WN, Wu D. Mechanisms of juvenile neuronal ceroid lipofuscinosis (JNCL). Yi Chuan 2009; 31:779-784.
15. Hofmann SL, Peltonen L. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases ofInherited Disease. New York: McGraw-Hill, 2001:3877-3894.
16. Backman ML, Santavuori PR, Aberg LE et al. Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res 2005; 49:25-32.
17. Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid- lipofuscinosis (Batten disease): a brief review and update. Curr Mol Med 2007; 7:603-608.
18. Williams RE, Aberg L, Autti T et al. Diagnosis of the neuronal ceroid lipofuscinoses: An update. Biochim Biophys Acta 2006; 1762:865-872.
19. Zhong N. Molecular genetic testing for neuronal ceroid lipofuscinoses. Adv Genet 2001; 45:141-158.
20. Hobert JA, Dawson G. Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta 2006; 1762:945-953.