Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks (Q39094722)

9 September 2017

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks (English)

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9 September 2017

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4

Christine Klein

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9 September 2017

Michaela Trilck

1

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9 September 2017

Rayk Hübner

2

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9 September 2017

Philip Seibler

3

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9 September 2017

Arndt Rolfs

5

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9 September 2017

Moritz J Frech

6

1 reference

9 September 2017

18 September 2013

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Orphanet Journal of Rare Diseases

9 September 2017

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9 September 2017

8

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9 September 2017

144

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-144

9 September 2017

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cites work

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin

1 reference

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Analysis of embryoid bodies derived from human induced pluripotent stem cells as a means to assess pluripotency

9 September 2017

1 reference

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Derivation of male germ cells from induced pluripotent stem cells in vitro and in reconstituted seminiferous tubules

9 September 2017

1 reference

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Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Modeling retinal degeneration using patient-specific induced pluripotent stem cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

9 September 2017

1 reference

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Characterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Niemann-Pick disease type C

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Generation of endoderm-derived human induced pluripotent stem cells from primary hepatocytes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Functional cardiomyocytes derived from human induced pluripotent stem cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Disease-specific induced pluripotent stem cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Induction of pluripotent stem cells by defined factors is greatly improved by small-molecule compounds

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Teratoma formation assays with human embryonic stem cells: a rationale for one type of human-animal chimera

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Reprogramming of human somatic cells to pluripotency with defined factors

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Directed differentiation of human-induced pluripotent stem cells generates active motor neurons

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Characterization of the spontaneous synaptic activity of amacrine cells in the mouse retina

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

GABAergic and glycinergic IPSCs in ganglion cells of rat retinal slices.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Human cortical interneurons take their time

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Highly efficient differentiation of human ES cells and iPS cells into mature pancreatic insulin-producing cells.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Cholesterol-dependent balance between evoked and spontaneous synaptic vesicle recycling.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

NPC1 gene deficiency leads to lack of neural stem cell self-renewal and abnormal differentiation through activation of p38 mitogen-activated protein kinase signaling

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Retrovirus silencing, variegation, extinction, and memory are controlled by a dynamic interplay of multiple epigenetic modifications

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

Identification and Classification of Chromosomal Aberrations in Human Induced Pluripotent Stem Cells

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3848807

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24044630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The effects of cardioactive drugs on cardiomyocytes derived from human induced pluripotent stem cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24044630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-144

1 reference

Dimensions Publication ID

9 September 2017

1026513019

0 references

Fatcat ID

release_fzb6td344bavpe2npfvjntikva

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fzb6td344bavpe2npfvjntikva

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

9 September 2017

1 reference