Type |
Details |
Score |
Publication |
First Author: |
Groh J |
Year: |
2016 |
Journal: |
Glia |
Title: |
Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease. |
Volume: |
64 |
Issue: |
5 |
Pages: |
792-809 |
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•
•
•
•
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Publication |
First Author: |
Palmer DN |
Year: |
2013 |
Journal: |
Biochim Biophys Acta |
Title: |
NCL disease mechanisms. |
Volume: |
1832 |
Issue: |
11 |
Pages: |
1882-93 |
|
•
•
•
•
•
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Publication |
First Author: |
Minye HM |
Year: |
2016 |
Journal: |
Data Brief |
Title: |
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. |
Volume: |
8 |
|
Pages: |
741-9 |
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•
•
•
•
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Publication |
First Author: |
Fehr C |
Year: |
2002 |
Journal: |
J Neurosci |
Title: |
Congenic mapping of alcohol and pentobarbital withdrawal liability loci to a <1 centimorgan interval of murine chromosome 4: identification of Mpdz as a candidate gene. |
Volume: |
22 |
Issue: |
9 |
Pages: |
3730-8 |
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•
•
•
•
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Publication |
First Author: |
Ottolenghi C |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Foxl2 is required for commitment to ovary differentiation. |
Volume: |
14 |
Issue: |
14 |
Pages: |
2053-62 |
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•
•
•
•
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Publication |
First Author: |
Wu D |
Year: |
2019 |
Journal: |
J Neurosci |
Title: |
A Role for Sensory end Organ-Derived Signals in Regulating Muscle Spindle Proprioceptor Phenotype. |
Volume: |
39 |
Issue: |
22 |
Pages: |
4252-4267 |
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•
•
•
•
•
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Publication |
First Author: |
Collin GB |
Year: |
2020 |
Journal: |
Cells |
Title: |
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
Volume: |
9 |
Issue: |
4 |
|
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•
•
•
•
•
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Publication |
First Author: |
The Jackson Laboratory |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from The Jackson Laboratory, Bar Harbor, ME |
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Publication |
First Author: |
The Jackson Laboratory Backcross DNA Panel Mapping Resource |
Year: |
1999 |
Journal: |
Database Release |
Title: |
JAX BSS Panel Mapping Data |
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•
•
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•
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration |
Year: |
2001 |
|
Title: |
LocusLink Collaboration |
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•
•
•
•
•
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Publication |
First Author: |
Ko MS |
Year: |
2000 |
Journal: |
Development |
Title: |
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. |
Volume: |
127 |
Issue: |
8 |
Pages: |
1737-49 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
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•
•
•
•
•
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Publication |
First Author: |
Visel A |
Year: |
2004 |
Journal: |
Nucleic Acids Res |
Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
Volume: |
32 |
Issue: |
Database issue |
Pages: |
D552-6 |
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•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
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•
•
•
•
•
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Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
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•
•
•
•
•
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Publication |
First Author: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
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•
•
•
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
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•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
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•
•
•
•
•
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Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
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•
•
•
•
•
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Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
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•
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Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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•
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Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
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Title: |
Cyagen Biosciences Website. |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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•
•
•
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Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
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•
•
•
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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•
•
•
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•
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Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
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•
•
•
•
•
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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•
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Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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•
•
•
•
•
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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•
•
•
•
•
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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•
•
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•
•
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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•
•
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•
•
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
•
•
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•
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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•
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Allele |
Name: |
palmitoyl-protein thioesterase 1; endonuclease-mediated mutation 1, Ravi Amaravadi |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
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•
•
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•
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Publication |
First Author: |
Calero G |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. |
Volume: |
278 |
Issue: |
39 |
Pages: |
37957-64 |
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•
•
•
•
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Publication |
First Author: |
Wandinger SK |
Year: |
2006 |
Journal: |
EMBO J |
Title: |
The phosphatase Ppt1 is a dedicated regulator of the molecular chaperone Hsp90. |
Volume: |
25 |
Issue: |
2 |
Pages: |
367-76 |
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MP Term |
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MP Term |
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MP Term |
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•
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Allele |
Name: |
palmitoyl-protein thioesterase 1; targeted mutation 1, Anu Jalanko |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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•
•
•
•
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Allele |
Name: |
palmitoyl-protein thioesterase 1; targeted mutation 1.1, David Pearce |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
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•
•
•
•
|
HT Experiment |
Series Id: |
GSE6678 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
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•
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Protein Domain |
Type: |
Family |
Description: |
This entry represents the palmitoyl protein thioesterase family. Its members include palmitoyl-protein thioesterase 1 and lysosomal thioesterase 2 (PPT1 and PPT2). PPT1 is responsible for the removal of a palmitate group from its substrate proteins, which may include presynaptic proteins like SNAP-25, cysteine string protein (CSP), dynamin, and synaptotagmin []. PPT2 removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA []. PPT1 and -2 perform non-redundant roles in lysosomal thioester catabolism [].Mutations in the PPT1 gene cause infantile-onset neuronal ceroid lipofuscinosis (INCL), which is a severe pediatric neurodegenerative disorder [].This entry also includes uncharacterised proteins from fungi and plants. |
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Allele |
Name: |
palmitoyl-protein thioesterase 1; targeted mutation 1, Sandra L Hoffmann |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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•
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•
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Genotype |
Symbol: |
Ppt1/Ppt1 |
Background: |
involves: 129S4/SvJae * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
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•
•
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Genotype |
Symbol: |
Ppt1/Ppt1 |
Background: |
involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
•
•
•
•
|
Genotype |
Symbol: |
Ppt1/Ppt1 |
Background: |
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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DO Term |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
302
 |
Fragment?: |
false |
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Publication |
First Author: |
Aladeokin AC |
Year: |
2019 |
Journal: |
Neurobiol Dis |
Title: |
Network-guided analysis of hippocampal proteome identifies novel proteins that colocalize with Aβ in a mice model of early-stage Alzheimer's disease. |
Volume: |
132 |
|
Pages: |
104603 |
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•
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•
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Publication |
First Author: |
Appu AP |
Year: |
2019 |
Journal: |
J Inherit Metab Dis |
Title: |
Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. |
Volume: |
42 |
Issue: |
5 |
Pages: |
944-954 |
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•
•
•
•
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Publication |
First Author: |
Lu JY |
Year: |
2015 |
Journal: |
Mol Genet Metab |
Title: |
Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. |
Volume: |
116 |
Issue: |
1-2 |
Pages: |
98-105 |
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