(Q37649077)

21 August 2017

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway (English)

1 reference

neuronal ceroid lipofuscinosis

21 August 2017

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jared Sterneckert

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Hans Schöler

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

23

Susan L Cotman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Xenia Lojewski

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

John F Staropoli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Sunita Biswas-Legrand

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Alexandra M Simas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Larissa Haliw

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Martin K Selig

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Scott H Coppel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Kendrick A Goss

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Uma Chandrachud

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Steven D Sheridan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Diane Lucente

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Katherine B Sims

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Dolan Sondhi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Ronald G Crystal

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Peter Reinhardt

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Stephen J Haggarty

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Alexander Storch

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Andreas Hermann

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

James F Gusella

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

publication date

23 November 2013

1 reference

21 August 2017

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

2005-2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

8 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3959814/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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23 August 2017

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23 August 2017

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23 August 2017

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Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

23 August 2017

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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

23 August 2017

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23 August 2017

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

23 August 2017

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

23 August 2017

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

23 August 2017

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

23 August 2017

1 reference

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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

23 August 2017

1 reference

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Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

23 August 2017

1 reference

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Directed evolution of adeno-associated virus for enhanced gene delivery and gene targeting in human pluripotent stem cells

23 August 2017

1 reference

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The E3 ubiquitin ligase Rnf8 stabilizes Tpp1 to promote telomere end protection

23 August 2017

1 reference

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Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome

23 August 2017

1 reference

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

23 August 2017

1 reference

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Induced pluripotent stem cells for modelling human diseases

23 August 2017

1 reference

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

23 August 2017

1 reference

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A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells

23 August 2017

1 reference

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Engineering of human pluripotent stem cells by AAV-mediated gene targeting

23 August 2017

1 reference

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

23 August 2017

1 reference

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Reprogramming of human somatic cells to pluripotency with defined factors

23 August 2017

1 reference

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PTC124 targets genetic disorders caused by nonsense mutations

23 August 2017

1 reference

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Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin

23 August 2017

1 reference

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CellProfiler: image analysis software for identifying and quantifying cell phenotypes

23 August 2017

1 reference

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Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

23 August 2017

1 reference

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

23 August 2017

1 reference

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Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

23 August 2017

1 reference

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A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease

23 August 2017

1 reference

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Hrs regulates multivesicular body formation via ESCRT recruitment to endosomes

23 August 2017

1 reference

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Neural stem cells: an overview

23 August 2017

1 reference

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Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Purification and characterization of a tripeptidyl peptidase I from human osteoclastomas: evidence for its role in bone resorption

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Direct reprogramming of human neural stem cells by OCT4.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Multipotent neural stem cells from the adult tegmentum with dopaminergic potential develop essential properties of functional neurons

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Lysosomal positioning coordinates cellular nutrient responses.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Loss of hrs in the central nervous system causes accumulation of ubiquitinated proteins and neurodegeneration

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Distinct roles for Tsg101 and Hrs in multivesicular body formation and inward vesiculation

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Mitochondrial changes in motor neurons of homozygotes of leucine 126 TT deletion SOD1 transgenic mice

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Transgene expression and RNA interference in embryonic stem cells

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

Neuronal ceroid lipofuscinoses

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959814

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

2 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24271013

12 December 2020

inferred from PubMed ID database lookup

Efficient generation of neural stem cell-like cells from adult human bone marrow stromal cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24271013

12 December 2020

inferred from PubMed ID database lookup

What are the requirements for lysosomal degradation of subunit c of mitochondrial ATPase?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24271013

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDT596

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271013%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference