Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I.Vines D.J., Warburton M.J.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCFEBS Lett. 443:131-135 (1999)Cited in1
Characterization and chromosomal mapping of a mouse ortholog of the late- infantile ceroid-lipofuscinosis gene CLN2.Katz M.L., Liu P.-C., Grob-Nunn S.E., Shibuya H., Johnson G.S.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMamm. Genome 10:1050-1053 (1999)Cited in1Mapped to13
Murine homologue of the lysosomal pepstatin insensitive protease which is deficient in human classical late infantile neuronal ceroid lipofuscinosis.Sleat D.E., Lobel P.Cited forNUCLEOTIDE SEQUENCECategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)Submission Submitted to EMBL/GenBank/DDBJ databases (DEC-1998)Cited in1
The transcriptional landscape of the mammalian genome.Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B.[...], Hayashizaki Y.View abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]StrainC57BL/6J, NODTissueHead, KidneyCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCScience 309:1559-1563 (2005)Cited in99+16Mapped to99+
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).The MGC Project TeamView abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]StrainC57BL/6JTissueRetinaCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCGenome Res. 14:2121-2127 (2004)Cited in99+99+
High throughput quantitative glycomics and glycoform-focused proteomics of murine dermis and epidermis.Uematsu R., Furukawa J., Nakagawa H., Shinohara Y., Deguchi K., Monde K., Nishimura S.View abstractCited forGLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-221TissueEpidermisCategoriesPTM / ProcessingSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Cell. Proteomics 4:1977-1989 (2005)Cited in16
Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.Lyly A., von Schantz C., Heine C., Schmiedt M.L., Sipilae T., Jalanko A., Kyttaelae A.View abstractCited forINTERACTION WITH CLN5, SUBCELLULAR LOCATIONCategoriesInteraction, Subcellular LocationSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBMC Cell Biol. 10:83-83 (2009)Cited in12Mapped to34
A tissue-specific atlas of mouse protein phosphorylation and expression.Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R., Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.View abstractCited forIDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]TissueBrain, Brown adipose tissue, Kidney, Liver, Lung, Pancreas, Spleen, TestisCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCCell 143:1174-1189 (2010)Cited in99+99+Mapped to6
A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.Geraets R.D., Langin L.M., Cain J.T., Parker C.M., Beraldi R., Kovacs A.D., Weimer J.M., Pearce D.A.View abstractCited forFUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF 207-ARG--PRO-562CategoriesFunction, Phenotypes & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCPLoS ONE 12:E0176526-E0176526 (2017)Cited in1Mapped to3
Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2<sup>R207X</sup> mice, a model of late infantile Batten disease.Kovacs A.D., Gonzalez Hernandez J.L., Pearce D.A.View abstractCategoriesSequencesSourceMGI: 1336194PubMedEurope PMCSci Rep 13:19229-19229 (2023)Mapped to14
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 M.J., Zhao Y., Rodriguez M., Wu Z., Liu M., Swain C.J., Yuan H., Batrakova E.V.View abstractCategoriesFunctionSourceMGI: 1336194PubMedEurope PMCCells 12:1497-1497 (2023)Mapped to4
Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model.Takahashi K., Eultgen E.M., Wang S.H., Rensing N.R., Nelvagal H.R., Dearborn J.T., Danos O., Buss N., Sands M.S.[...], Cooper J.D.View abstractSourceMGI: 1336194PubMedEurope PMCJ Clin Invest 133:e165908-e165908 (2023)Mapped to4
A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.Sleat D.E., Banach-Petrosky W., Larrimore K.E., Nemtsova Y., Wiseman J.A., Najafi A., Johnson D., Poole T.A., Takahashi K.[...], Lobel P.View abstractAnnotationA mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.SourceGeneRif: 12751PubMedEurope PMCJ Inherit Metab Dis 46:720-734 (2023)Mapped to9
Treadmill exercise reduces alpha-synuclein spreading via PPARalpha.Dutta D., Paidi R.K., Raha S., Roy A., Chandra S., Pahan K.View abstractCategoriesFamily & DomainsSourceMGI: 1336194PubMedEurope PMCCell Rep 40:111058-111058 (2022)Mapped to21
Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression.Domowicz M.S., Chan W.C., Claudio-Vazquez P., Gonzalez T., Schwartz N.B.View abstractCategoriesExpressionSourceMGI: 1336194PubMedEurope PMCJ Neuroinflammation 18:262-262 (2021)Mapped to4
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.Graniel J.V., Bisht K., Friedman A., White J., Perkey E., Vanderbeck A., Moroz A., Carrington L.J., Brandstadter J.D.[...], Nandakumar J.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1336194PubMedEurope PMCLife Sci Alliance 5:e202101208-e202101208 (2022)Mapped to9
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.Bedogni F., Hevner R.F.View abstractSourceMGI: 1336194PubMedEurope PMCFront Mol Neurosci 14:686034-686034 (2021)Mapped to99+
Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARalpha: Implications for late- infantile Batten disease therapy.Chakrabarti S., Chandra S., Roy A., Dasarathi S., Kundu M., Pahan K.View abstractCategoriesFunction, ExpressionSourceMGI: 1336194PubMedEurope PMCNeurobiol Dis 127:362-373 (2019)Mapped to4
53BP1-RIF1-shieldin counteracts DSB resection through CST- and Polalpha- dependent fill-in.Mirman Z., Lottersberger F., Takai H., Kibe T., Gong Y., Takai K., Bianchi A., Zimmermann M., Durocher D., de Lange T.View abstractCategoriesFunctionSourceMGI: 1336194PubMedEurope PMCNature 560:112-116 (2018)Mapped to48
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis.Nemtsova Y., Wiseman J.A., El-Banna M., Lobel P., Sleat D.E.View abstractCategoriesFunction, ExpressionSourceMGI: 1336194PubMedEurope PMCPLoS One 13:e0192286-e0192286 (2018)Mapped to11
Loss of TMEM106B ameliorates lysosomal and frontotemporal dementia-related phenotypes in progranulin-deficient mice.Klein Z.A., Takahashi H., Ma M., Stagi M., Zhou M., Lam T.T., Strittmatter S.M.View abstractCategoriesFunction, InteractionSourceMGI: 1336194PubMedEurope PMCNeuron 95:281-296 (2017)Cited in4Mapped to41
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.Ghosh A., Rangasamy S.B., Modi K.K., Pahan K.View abstractCategoriesFunctionSourceMGI: 1336194PubMedEurope PMCJ Neurochem 141:423-435 (2017)Mapped to4
Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin.Minye H.M., Fabritius A.L., Vesa J., Peltonen L.View abstractCategoriesExpressionSourceMGI: 1336194PubMedEurope PMCData Brief 8:741-749 (2016)Mapped to28
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.Hersrud S.L., Kovacs A.D., Pearce D.A.View abstractCategoriesFunctionSourceMGI: 1336194PubMedEurope PMCBiochim Biophys Acta 1862:1324-1336 (2016)Mapped to25
TPP1 Blocks an ATR-Mediated Resection Mechanism at Telomeres.Kibe T., Zimmermann M., de Lange T.View abstractCategoriesFunctionSourceMGI: 1336194PubMedEurope PMCMol Cell 61:236-246 (2016)Mapped to17