252 related articles for article (PubMed ID: 31100984)
1. Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in
Smith PK; Sen MG; Fisher PR; Annesley SJ
Cells; 2019 May; 8(5):. PubMed ID: 31100984
[TBL] [Abstract][Full Text] [Related]
2. Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum.
Phillips JE; Gomer RH
Dis Model Mech; 2015 Feb; 8(2):147-56. PubMed ID: 25540127
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.
Vuillemenot BR; Katz ML; Coates JR; Kennedy D; Tiger P; Kanazono S; Lobel P; Sohar I; Xu S; Cahayag R; Keve S; Koren E; Bunting S; Tsuruda LS; O'Neill CA
Mol Genet Metab; 2011 Nov; 104(3):325-37. PubMed ID: 21784683
[TBL] [Abstract][Full Text] [Related]
8. A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in
Stumpf M; Müller R; Gaßen B; Wehrstedt R; Fey P; Karow MA; Eichinger L; Glöckner G; Noegel AA
Dis Model Mech; 2017 Jul; 10(7):897-907. PubMed ID: 28546289
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
Chen ZR; Liu DT; Meng H; Liu L; Bian WJ; Liu XR; Zhu WW; He Y; Wang J; Tang B; Su T; Yi YH
Seizure; 2019 Jul; 69():180-185. PubMed ID: 31059981
[TBL] [Abstract][Full Text] [Related]
11. Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model.
Domowicz MS; Chan WC; Claudio-Vázquez P; Henry JG; Ware CB; Andrade J; Dawson G; Schwartz NB
ASN Neuro; 2019; 11():1759091419843393. PubMed ID: 31003587
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy.
Chakrabarti S; Chandra S; Roy A; Dasarathi S; Kundu M; Pahan K
Neurobiol Dis; 2019 Jul; 127():362-373. PubMed ID: 30928643
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.
Katz ML; Johnson GC; Leach SB; Williamson BG; Coates JR; Whiting REH; Vansteenkiste DP; Whitney MS
Gene Ther; 2017 Apr; 24(4):215-223. PubMed ID: 28079862
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease.
El-Hage N; Haney MJ; Zhao Y; Rodriguez M; Wu Z; Liu M; Swain CJ; Yuan H; Batrakova EV
Cells; 2023 May; 12(11):. PubMed ID: 37296618
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
