(Q28728782)

21 June 2017

title

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system (English)

1 reference

21 June 2017

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31

Jolene Guide

1 reference

21 June 2017

10

Frauke Neff

1 reference

21 June 2017

Martin Hrabě de Angelis

41

Martin Hrabě de Angelis

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Valérie Gailus-Durner

39

Valérie Gailus-Durner

0 references

Julia Calzada-Wack

9

Julia Calzada-Wack

1 reference

21 June 2017

Lillian Garrett

4

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Lore Becker

Lore Becker

6

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Jan Rozman

Jan Rozman

12

0 references

Sabine M. Hölter

Sabine M Hölter

5

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Jochen Graw

Jochen Graw

21

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Martin Klingenspor

Martin Klingenspor

22

0 references

Eckhard Wolf

Eckhard Wolf

24

0 references

W. Wurst

25

Wolfgang Wurst

1 reference

21 June 2017

20

Dirk H Busch

1 reference

21 June 2017

40

Helmut Fuchs

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21 June 2017

23

Thomas Klopstock

1 reference

21 June 2017

19

Raffi Bekeredjian

1 reference

21 June 2017

13

Anja Schrewe

1 reference

Patricia Da Silva-Buttkus

21 June 2017

8

Patricia Da Silva-Buttkus

1 reference

21 June 2017

14

Thure Adler

1 reference

21 June 2017

15

Oliver Puk

1 reference

21 June 2017

16

Minxuan Sun

1 reference

21 June 2017

34

Vanessa C Wheeler

1 reference

21 June 2017

42

Susan L Cotman

1 reference

21 June 2017

35

Rose-Mary Boustany

1 reference

21 June 2017

John F Staropoli

1

1 reference

21 June 2017

Larissa Haliw

2

1 reference

21 June 2017

Sunita Biswas

3

1 reference

21 June 2017

Sergej Skosyrski

7

1 reference

21 June 2017

Birgit Rathkolb

11

1 reference

21 June 2017

Jack Favor

17

1 reference

21 June 2017

Ildikó Racz

18

1 reference

21 June 2017

Andreas Zimmer

26

1 reference

21 June 2017

Edith Lopez

27

1 reference

21 June 2017

Hayat Harati

28

1 reference

21 June 2017

Eric Hill

29

1 reference

21 June 2017

Daniela S Krause

30

1 reference

21 June 2017

Ella Dragileva

32

1 reference

21 June 2017

Evan Gale

33

1 reference

21 June 2017

Diane E Brown

36

1 reference

21 June 2017

Sylvie Breton

37

1 reference

21 June 2017

Klaus Ruether

38

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21 June 2017

language of work or name

English

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publication date

6 June 2012

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21 June 2017

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21 June 2017

volume

7

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21 June 2017

issue

6

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21 June 2017

page(s)

e38310

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Creative Commons Attribution 4.0 International

21 June 2017

copyright license

start time

6 June 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Females experience a more severe disease course in Batten disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Distinct mechanisms of ferritin delivery to lysosomes in iron-depleted and iron-replete cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Autophagy in immunity and inflammation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Network organization of the human autophagy system

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunit

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Spectrum of mutations in the Batten disease gene, CLN3

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Impaired prepulse inhibition of acoustic and tactile startle response in patients with Huntington's disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Ly6C supports preferential homing of central memory CD8+ T cells into lymph nodes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Chronic murine typhoid fever is a natural model of secondary hemophagocytic lymphohistiocytosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Agouti C57BL/6N embryonic stem cells for mouse genetic resources

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Regulation of luminal acidification in the male reproductive tract via cell-cell crosstalk

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Mitochondrial clearance is regulated by Atg7-dependent and -independent mechanisms during reticulocyte maturation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Identification of Atg5-dependent transcriptional changes and increases in mitochondrial mass in Atg5-deficient T lymphocytes.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Systemic first-line phenotyping

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Towards understanding the neuronal ceroid lipofuscinoses.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Lysosomal activity associated with developmental axon pruning

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Genetic influence on immune phenotype revealed strain-specific variations in peripheral blood lineages

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Sex-dependent susceptibility to Listeria monocytogenes infection is mediated by differential interleukin-10 production

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

In vivo biometry in the mouse eye with low coherence interferometry

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Calcineurin-NFAT signaling regulates the cardiac hypertrophic response in coordination with the MAPKs

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Synthetic analgesics. II. Dithienylbutenyl- and dithienylbutylamines

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Iron metabolism in the reticuloendothelial system

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Sensorimotor integration in movement disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Strain and substrain differences in context- and tone-dependent fear conditioning of inbred mice.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Plasma N-terminal atrial natriuretic peptide in acute myocardial infarction

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Study of Left Ventricular Geometry and Function by B-Scan Ultrasonography in Patients with and without Asynergy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Bone marrow in the Batten-Vogt syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Neuronal ceroid lipofuscinoses

3 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Introducing the German Mouse Clinic: open access platform for standardized phenotyping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Impaired sensorimotor gating in patients with non-epileptic seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

A clinical rating scale for Batten disease: reliable and relevant for clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Lysosomal dysfunction results in altered energy balance

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Systematic, standardized and comprehensive neurological phenotyping of inbred mice strains in the German Mouse Clinic.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Role of NHERF1, cystic fibrosis transmembrane conductance regulator, and cAMP in the regulation of aquaporin 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038310

Cardiac pathology in neuronal ceroid lipofuscinoses--a clinicopathologic correlation in three patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3368842

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

27 November 2018

1 reference

12 December 2020

A knock-in reporter model of Batten disease

1 reference

12 December 2020

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

1 reference

12 December 2020

Circulating N-terminal atrial natriuretic peptide as a marker for symptomless left-ventricular dysfunction

1 reference

12 December 2020

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

1 reference

12 December 2020

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

1 reference

12 December 2020

The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses

1 reference

12 December 2020

Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0038310

Identifiers

DOI

1 reference

21 June 2017

0 references

0 references

1 reference