419 related articles for article (PubMed ID: 24271013)
1. 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]
2. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Sima N; Li R; Huang W; Xu M; Beers J; Zou J; Titus S; Ottinger EA; Marugan JJ; Xie X; Zheng W
Orphanet J Rare Dis; 2018 Apr; 13(1):54. PubMed ID: 29631617
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
Getty AL; Pearce DA
Cell Mol Life Sci; 2011 Feb; 68(3):453-74. PubMed ID: 20680390
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy.
Ghosh A; Corbett GT; Gonzalez FJ; Pahan K
J Biol Chem; 2012 Nov; 287(46):38922-35. PubMed ID: 22989886
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis.
Sanders DN; Kanazono S; Wininger FA; Whiting RE; Flournoy CA; Coates JR; Castaner LJ; O'Brien DP; Katz ML
Genes Brain Behav; 2011 Oct; 10(7):798-804. PubMed ID: 21745338
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Walus M; Kida E; Golabek AA
Hum Mutat; 2010 Jun; 31(6):710-21. PubMed ID: 20340139
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.
Kohan R; Muller VJ; Fietz MJ; Cismondi AI; Oller Ramírez AM; Halac IN
Hum Genet; 2008 Jun; 123(5):553. PubMed ID: 20960655
[No Abstract] [Full Text] [Related]
16. 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]
17. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
Teixeira C; Guimarães A; Bessa C; Ferreira MJ; Lopes L; Pinto E; Pinto R; Boustany RM; Sá Miranda MC; Ribeiro MG
J Neurol; 2003 Jun; 250(6):661-7. PubMed ID: 12796825
[TBL] [Abstract][Full Text] [Related]
18. Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.
Ghosh A; Rangasamy SB; Modi KK; Pahan K
J Neurochem; 2017 May; 141(3):423-435. PubMed ID: 28199020
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis.
Shen J; Cram DS; Wu W; Cai L; Yang X; Sun X; Cui Y; Liu J
Reprod Biomed Online; 2013 Aug; 27(2):176-83. PubMed ID: 23768618
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
