249 related articles for article (PubMed ID: 23587805)
1. A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation.
Mahmood F; Fu S; Cooke J; Wilson SW; Cooper JD; Russell C
Brain; 2013 May; 136(Pt 5):1488-507. PubMed ID: 23587805
[TBL] [Abstract][Full Text] [Related]
2. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N
Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
[TBL] [Abstract][Full Text] [Related]
3. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
Whiting RE; Pearce JW; Castaner LJ; Jensen CA; Katz RJ; Gilliam DH; Katz ML
Exp Eye Res; 2015 May; 134():123-32. PubMed ID: 25697710
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y; Almomani R; Breedveld GJ; Santen GW; Aten E; Lefeber DJ; Hoff JI; Brusse E; Verheijen FW; Verdijk RM; Kriek M; Oostra B; Breuning MH; Losekoot M; den Dunnen JT; van de Warrenburg BP; Maat-Kievit AJ
Hum Mutat; 2013 May; 34(5):706-13. PubMed ID: 23418007
[TBL] [Abstract][Full Text] [Related]
5. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Kohlschütter A; Schulz A
Pediatr Endocrinol Rev; 2016 Jun; 13 Suppl 1():682-8. PubMed ID: 27491216
[TBL] [Abstract][Full Text] [Related]
6. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E; Bailey M; Schulz A; Aristorena M; Miller N; Mole SE
Hum Mutat; 2019 Nov; 40(11):1924-1938. PubMed ID: 31283065
[TBL] [Abstract][Full Text] [Related]
7. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
Katz ML; Coates JR; Sibigtroth CM; Taylor JD; Carpentier M; Young WM; Wininger FA; Kennedy D; Vuillemenot BR; O'Neill CA
J Neurosci Res; 2014 Nov; 92(11):1591-8. PubMed ID: 24938720
[TBL] [Abstract][Full Text] [Related]
8. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
Kohan R; Cismondi IA; Kremer RD; Muller VJ; Guelbert N; Anzolini VT; Fietz MJ; Ramírez AM; Halac IN
Clin Genet; 2009 Oct; 76(4):372-82. PubMed ID: 19793312
[TBL] [Abstract][Full Text] [Related]
9. Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
Munesue Y; Ageyama N; Kimura N; Takahashi I; Nakayama S; Okabayashi S; Katakai Y; Koie H; Yagami KI; Ishii K; Tamaoka A; Yasutomi Y; Shimozawa N
Exp Neurol; 2023 May; 363():114381. PubMed ID: 36918063
[TBL] [Abstract][Full Text] [Related]
10. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
Wang YL; Zeng ZY; Song XW; Hao ZF; Shi YW; Tang B; Chen SQ; Gao MM; Di W; Long YS; Yi YH; Liao WP
Neurogenetics; 2011 Feb; 12(1):93-5. PubMed ID: 20820830
[No Abstract] [Full Text] [Related]
11. Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease.
Whiting REH; Jensen CA; Pearce JW; Gillespie LE; Bristow DE; Katz ML
Exp Eye Res; 2016 May; 146():276-282. PubMed ID: 27039708
[TBL] [Abstract][Full Text] [Related]
12. Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis.
Whiting RE; Narfström K; Yao G; Pearce JW; Coates JR; Castaner LJ; Jensen CA; Dougherty BN; Vuillemenot BR; Kennedy D; O'Neill CA; Katz ML
Exp Eye Res; 2014 Aug; 125():164-72. PubMed ID: 24954537
[TBL] [Abstract][Full Text] [Related]
13. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
Sleat DE; Wiseman JA; El-Banna M; Kim KH; Mao Q; Price S; Macauley SL; Sidman RL; Shen MM; Zhao Q; Passini MA; Davidson BL; Stewart GR; Lobel P
J Neurosci; 2004 Oct; 24(41):9117-26. PubMed ID: 15483130
[TBL] [Abstract][Full Text] [Related]
14. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
Yu F; Liu XM; Chen YH; Zhang SQ; Wang K
Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
[No Abstract] [Full Text] [Related]
15. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Lojewski X; Staropoli JF; Biswas-Legrand S; Simas AM; Haliw L; Selig MK; Coppel SH; Goss KA; Petcherski A; Chandrachud U; Sheridan SD; Lucente D; Sims KB; Gusella JF; Sondhi D; Crystal RG; Reinhardt P; Sterneckert J; Schöler H; Haggarty SJ; Storch A; Hermann A; Cotman SL
Hum Mol Genet; 2014 Apr; 23(8):2005-22. PubMed ID: 24271013
[TBL] [Abstract][Full Text] [Related]
16. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Kohan R; Carabelos MN; Xin W; Sims K; Guelbert N; Cismondi IA; Pons P; Alonso GI; Troncoso M; Witting S; Pearce DA; Dodelson de Kremer R; Oller-Ramírez AM; Noher de Halac I
Gene; 2013 Mar; 516(1):114-21. PubMed ID: 23266810
[TBL] [Abstract][Full Text] [Related]
17. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.
Vuillemenot BR; Kennedy D; Cooper JD; Wong AM; Sri S; Doeleman T; Katz ML; Coates JR; Johnson GC; Reed RP; Adams EL; Butt MT; Musson DG; Henshaw J; Keve S; Cahayag R; Tsuruda LS; O'Neill CA
Mol Genet Metab; 2015 Feb; 114(2):281-93. PubMed ID: 25257657
[TBL] [Abstract][Full Text] [Related]
18. Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis.
Whiting REH; Pearce JW; Vansteenkiste DP; Bibi K; Lim S; Robinson Kick G; Castaner LJ; Sinclair J; Chandra S; Nguyen A; O'Neill CA; Katz ML
Exp Eye Res; 2020 Aug; 197():108130. PubMed ID: 32622066
[TBL] [Abstract][Full Text] [Related]
19. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.
Katz ML; Tecedor L; Chen Y; Williamson BG; Lysenko E; Wininger FA; Young WM; Johnson GC; Whiting RE; Coates JR; Davidson BL
Sci Transl Med; 2015 Nov; 7(313):313ra180. PubMed ID: 26560358
[TBL] [Abstract][Full Text] [Related]
20. A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.
Geraets RD; Langin LM; Cain JT; Parker CM; Beraldi R; Kovacs AD; Weimer JM; Pearce DA
PLoS One; 2017; 12(5):e0176526. PubMed ID: 28464005
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
