Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice (Q36683039)

15 August 2017

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice (English)

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neuronal ceroid lipofuscinosis

15 August 2017

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1 reference

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Jonathan D Cooper

8

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Matti Jauhiainen

6

object named as

Matti Jauhiainen

1 reference

15 August 2017

Jaana Tyynelä-Vesterinen

7

object named as

Jaana Tyynelä

1 reference

15 August 2017

Tea Blom

1

1 reference

15 August 2017

Mia-Lisa Schmiedt

2

1 reference

15 August 2017

Andrew M Wong

3

1 reference

15 August 2017

Aija Kyttälä

4

1 reference

15 August 2017

Jarkko Soronen

5

1 reference

15 August 2017

Anu Jalanko

9

1 reference

15 August 2017

12 October 2012

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Disease Models & Mechanisms

15 August 2017

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15 August 2017

6

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15 August 2017

2

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15 August 2017

342-357

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Creative Commons Attribution 2.0 Generic

15 August 2017

start time

18 May 2021

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3597017/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting

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The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis

30 September 2017

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Pathological roles of α-synuclein in neurological disorders

30 September 2017

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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

30 September 2017

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Rabs, SNAREs and α-synuclein--membrane trafficking defects in synucleinopathies

30 September 2017

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Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

30 September 2017

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Alpha-synuclein, lipids and Parkinson's disease

30 September 2017

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Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders

30 September 2017

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The non-classical functions of the classical complement pathway recognition subcomponent C1q.

30 September 2017

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Microglia in neurodegenerative disease

30 September 2017

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The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations

30 September 2017

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Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

30 September 2017

1 reference

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Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.

30 September 2017

1 reference

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Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.

30 September 2017

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

30 September 2017

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Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

30 September 2017

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Alpha-synuclein misfolding and neurodegenerative diseases

30 September 2017

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Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration

30 September 2017

1 reference

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Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

30 September 2017

1 reference

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The classical complement cascade mediates CNS synapse elimination

30 September 2017

1 reference

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Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis

30 September 2017

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Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

30 September 2017

1 reference

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The neuronal ceroid-lipofuscinoses: from past to present

30 September 2017

1 reference

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Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons

30 September 2017

1 reference

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Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

30 September 2017

1 reference

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Retrovirus-mediated gene transfer and expression cloning: powerful tools in functional genomics

30 September 2017

1 reference

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The neuronal ceroid-lipofuscinoses

30 September 2017

1 reference

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Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

30 September 2017

1 reference

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Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system

30 September 2017

1 reference

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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

30 September 2017

1 reference

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Macrosialin, a mouse macrophage-restricted glycoprotein, is a member of the lamp/lgp family.

30 September 2017

1 reference

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Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras

30 September 2017

1 reference

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

30 September 2017

1 reference

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Neuronal ceroid-lipofuscinoses in childhood

30 September 2017

1 reference

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The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

The efficiency of systematic sampling in stereology and its prediction.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

C1q, the recognition subcomponent of the classical pathway of complement, drives microglial activation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Induction of pluripotent stem cells from fibroblast cultures.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Cyclase-associated protein is essential for the functioning of the endo-lysosomal system and provides a link to the actin cytoskeleton.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Determination of human plasma phospholipid transfer protein mass and activity

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Early changes in gene expression in two models of Batten disease.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Lipid transfer protein activities in type 1 diabetic patients without renal failure and nondiabetic control subjects and their association with coronary artery calcification.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Human plasma phospholipid transfer protein increases the antiatherogenic potential of high density lipoproteins in transgenic mice.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Neuronal ceroid lipofuscinoses

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597017

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

20 October 2018

1 reference

12 December 2020

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

1 reference

12 December 2020

Microglia: Intrinsic immuneffector cell of the brain

1 reference

12 December 2020

Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation

1 reference

12 December 2020

Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice

1 reference

12 December 2020

The neuronal ceroid lipofuscinoses: the same, but different?

1 reference

12 December 2020

Identifiers

DOI

10.1242/DMM.010140

1 reference

15 August 2017

1 reference

15 August 2017

1 reference