153 related articles for article (PubMed ID: 11462245)
1. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
Lin L; Lobel P
Hum Mutat; 2001 Aug; 18(2):165. PubMed ID: 11462245
[TBL] [Abstract][Full Text] [Related]
2. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
Tsiakas K; Steinfeld R; Storch S; Ezaki J; Lukacs Z; Kominami E; Kohlschütter A; Ullrich K; Braulke T
Glycobiology; 2004 Apr; 14(4):1C-5C. PubMed ID: 14736728
[TBL] [Abstract][Full Text] [Related]
3. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Steinfeld R; Steinke HB; Isbrandt D; Kohlschütter A; Gärtner J
Hum Mol Genet; 2004 Oct; 13(20):2483-91. PubMed ID: 15317752
[TBL] [Abstract][Full Text] [Related]
4. A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.
Tessa A; Simonati A; Tavoni A; Bertini E; Santorelli FM
Hum Mutat; 2000 Jun; 15(6):577. PubMed ID: 10862088
[TBL] [Abstract][Full Text] [Related]
5. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
Hartikainen JM; Ju W; Wisniewski KE; Moroziewicz DN; Kaczmarski AL; McLendon L; Zhong D; Suarez CT; Brown WT; Zhong N
Mol Genet Metab; 1999 Jun; 67(2):162-8. PubMed ID: 10356316
[TBL] [Abstract][Full Text] [Related]
6. AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL.
Sondhi D; Peterson DA; Giannaris EL; Sanders CT; Mendez BS; De B; Rostkowski AB; Blanchard B; Bjugstad K; Sladek JR; Redmond DE; Leopold PL; Kaminsky SM; Hackett NR; Crystal RG
Gene Ther; 2005 Nov; 12(22):1618-32. PubMed ID: 16052206
[TBL] [Abstract][Full Text] [Related]
7. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
Barisić N; Logan P; Pikija S; Skarpa D; Blau N
Croat Med J; 2003 Aug; 44(4):489-93. PubMed ID: 12950156
[TBL] [Abstract][Full Text] [Related]
8. Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
Berry-Kravis E; Sleat DE; Sohar I; Meyer P; Donnelly R; Lobel P
Ann Neurol; 2000 Feb; 47(2):254-7. PubMed ID: 10665500
[TBL] [Abstract][Full Text] [Related]
9. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
Steinfeld R; Heim P; von Gregory H; Meyer K; Ullrich K; Goebel HH; Kohlschütter A
Am J Med Genet; 2002 Nov; 112(4):347-54. PubMed ID: 12376936
[TBL] [Abstract][Full Text] [Related]
10. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.
Liu CG; Sleat DE; Donnelly RJ; Lobel P
Genomics; 1998 Jun; 50(2):206-12. PubMed ID: 9653647
[TBL] [Abstract][Full Text] [Related]
11. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.
Sohar I; Sleat DE; Jadot M; Lobel P
J Neurochem; 1999 Aug; 73(2):700-11. PubMed ID: 10428067
[TBL] [Abstract][Full Text] [Related]
12. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE; Mitchison HM; Munroe PB
Hum Mutat; 1999; 14(3):199-215. PubMed ID: 10477428
[TBL] [Abstract][Full Text] [Related]
13. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis.
Ezaki J; Takeda-Ezaki M; Oda K; Kominami E
Biochem Biophys Res Commun; 2000 Feb; 268(3):904-8. PubMed ID: 10679303
[TBL] [Abstract][Full Text] [Related]
14. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.
Crystal RG; Sondhi D; Hackett NR; Kaminsky SM; Worgall S; Stieg P; Souweidane M; Hosain S; Heier L; Ballon D; Dinner M; Wisniewski K; Kaplitt M; Greenwald BM; Howell JD; Strybing K; Dyke J; Voss H
Hum Gene Ther; 2004 Nov; 15(11):1131-54. PubMed ID: 15610613
[TBL] [Abstract][Full Text] [Related]
15. Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.
Bernardini F; Warburton MJ
Biochem J; 2002 Sep; 366(Pt 2):521-9. PubMed ID: 12038963
[TBL] [Abstract][Full Text] [Related]
16. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
Bukina AM; Tsvetkova IV; Semiachkina AN; Il'ina ES
Vopr Med Khim; 2002; 48(6):594-8. PubMed ID: 12698559
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
Sleat DE; Gin RM; Sohar I; Wisniewski K; Sklower-Brooks S; Pullarkat RK; Palmer DN; Lerner TJ; Boustany RM; Uldall P; Siakotos AN; Donnelly RJ; Lobel P
Am J Hum Genet; 1999 Jun; 64(6):1511-23. PubMed ID: 10330339
[TBL] [Abstract][Full Text] [Related]
18. Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis.
Lin L; Lobel P
Biochem J; 2001 Jul; 357(Pt 1):49-55. PubMed ID: 11415435
[TBL] [Abstract][Full Text] [Related]
19. Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
Wisniewski KE; Kida E; Walus M; Wujek P; Kaczmarski W; Golabek AA
Eur J Paediatr Neurol; 2001; 5 Suppl A():73-9. PubMed ID: 11589013
[TBL] [Abstract][Full Text] [Related]
20. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
Zhong N; Wisniewski KE; Hartikainen J; Ju W; Moroziewicz DN; McLendon L; Sklower Brooks SS; Brown WT
Clin Genet; 1998 Sep; 54(3):234-8. PubMed ID: 9788728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]