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Article ; Online: Tinkering with transcription factors uncovers plasticity of somatic cells.

Azevedo, Judi L / Feldman, Ricardo A

2011 Volume 1, Issue 11, Page(s) 1089–1099

Abstract: The advent of induced pluripotent stem cells (iPSCs) has brought the goal of using patient-derived cells for tissue repair closer to reality. However, the mechanisms involved in reprogramming to a pluripotent state are still not clear. It is understood ... ...

Abstract	The advent of induced pluripotent stem cells (iPSCs) has brought the goal of using patient-derived cells for tissue repair closer to reality. However, the mechanisms involved in reprogramming to a pluripotent state are still not clear. It is understood that reprogramming to pluripotency involves epigenetic remodeling and the reactivation of "core" pluripotency factors. However, little is known about the mechanisms involved in overcoming senescence while avoiding oncogenesis, the maintenance of self-renewal, and the regulation of the balance between pluripotency and differentiation. Here, we review recent advances in reprogramming technology and what is currently known about the mechanism of reprogramming to pluripotency. Work with patient-derived iPSCs is already providing new insights into the cellular and molecular mechanisms involved in human disease. Further advances in reprogramming technology should result in efficient methods to reprogram patient-derived cells into iPSCs for use in regenerative medicine.
Language	English
Publishing date	2011-07-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	2538519-7
ISSN	1947-6027 ; 1947-6019
ISSN (online)	1947-6027
ISSN	1947-6019
DOI	10.1177/1947601911401908
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Inflammatory profile analysis reveals differences in cytokine expression between smokers, moist snuff users, and dual users compared to non-tobacco consumers.

Sgambato, Judi Azevedo / Jones, Bobbette A / Caraway, John W / Prasad, G L

Cytokine

2017 Volume 107, Page(s) 43–51

Abstract: Objective and design: The aim of this study is to investigate the inflammatory alterations due to the use of smokeless tobacco and dual use of smokeless tobacco and cigarettes, relative to smoking.: Subjects: Plasma and saliva samples were collected ... ...

Abstract	Objective and design: The aim of this study is to investigate the inflammatory alterations due to the use of smokeless tobacco and dual use of smokeless tobacco and cigarettes, relative to smoking. Subjects: Plasma and saliva samples were collected from healthy smokers (SMK-100 subjects), moist snuff users (MSC-89 subjects), the dual users (DUSMK-49 subjects), and non-tobacco consumers (NTC-99 subjects) from two cross-sectional studies. Methods: Luminex Human InflammationMAP® 1.0 panel, a multiplex immunoassay. Results: SMK and DUSMK exhibited larger number of alterations in the expression of inflammatory analytes compared to NTC. Eight analytes were significantly elevated (p ≤ .05) within plasma samples of SMK compared to NTC, while one 1 analyte was elevated between the MSC and NTC groups. DUSMK exhibited different levels of 11 analytes, relative to NTC. MSC displayed fewer alterations in inflammatory protein expression compared to smoker groups, and the inflammatory profile of MSC resembles NTC. Five analytes (ICAM-1, VEGF, MMP-9, ferritin and fibrinogen) emerged as potential biomarkers distinguishing tobacco consumers (p < .02). Conclusions: We identified a set of five proteins as potential biomarkers that can inform of inflammation status due to tobacco usage. Our findings contribute a better understanding of how the use of different tobacco products contributes to inflammation.
MeSH term(s)	Adult ; Aged ; Biomarkers/analysis ; Biomarkers/blood ; Cross-Sectional Studies ; Cytokines/analysis ; Cytokines/blood ; Female ; Humans ; Inflammation Mediators/analysis ; Inflammation Mediators/blood ; Intercellular Adhesion Molecule-1/analysis ; Intercellular Adhesion Molecule-1/blood ; Male ; Matrix Metalloproteinase 9/analysis ; Matrix Metalloproteinase 9/blood ; Middle Aged ; Saliva/metabolism ; Smoking ; Tobacco, Smokeless ; Vascular Endothelial Growth Factor A/analysis ; Vascular Endothelial Growth Factor A/blood ; Young Adult
Chemical Substances	Biomarkers ; Cytokines ; Inflammation Mediators ; Vascular Endothelial Growth Factor A ; Intercellular Adhesion Molecule-1 (126547-89-5) ; Matrix Metalloproteinase 9 (EC 3.4.24.35)
Language	English
Publishing date	2017-12-06
Publishing country	England
Document type	Comparative Study ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	1018055-2
ISSN	1096-0023 ; 1043-4666
ISSN (online)	1096-0023
ISSN	1043-4666
DOI	10.1016/j.cyto.2017.11.013
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Article ; Online: Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease.

Panicker, Leelamma M / Miller, Diana / Park, Tea Soon / Patel, Brijesh / Azevedo, Judi L / Awad, Ola / Masood, M Athar / Veenstra, Timothy D / Goldin, Ehud / Stubblefield, Barbara K / Tayebi, Nahid / Polumuri, Swamy K / Vogel, Stefanie N / Sidransky, Ellen / Zambidis, Elias T / Feldman, Ricardo A

Proceedings of the National Academy of Sciences of the United States of America

2012 Volume 109, Issue 44, Page(s) 18054–18059

Abstract: Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocerebrosidase gene. To model GD, we generated human induced pluripotent stem cells (hiPSC), by reprogramming skin fibroblasts from patients with type 1 (N370S/ ... ...

Abstract	Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocerebrosidase gene. To model GD, we generated human induced pluripotent stem cells (hiPSC), by reprogramming skin fibroblasts from patients with type 1 (N370S/N370S), type 2 (L444P/RecNciI), and type 3 (L444P/L444P) GD. Pluripotency was demonstrated by the ability of GD hiPSC to differentiate to all three germ layers and to form teratomas in vivo. GD hiPSC differentiated efficiently to the cell types most affected in GD, i.e., macrophages and neuronal cells. GD hiPSC-macrophages expressed macrophage-specific markers, were phagocytic, and were capable of releasing inflammatory mediators in response to LPS. Moreover, GD hiPSC-macrophages recapitulated the phenotypic hallmarks of the disease. They exhibited low glucocerebrosidase (GC) enzymatic activity and accumulated sphingolipids, and their lysosomal functions were severely compromised. GD hiPSC-macrophages had a defect in their ability to clear phagocytosed RBC, a phenotype of tissue-infiltrating GD macrophages. The kinetics of RBC clearance by types 1, 2, and 3 GD hiPSC-macrophages correlated with the severity of the mutations. Incubation with recombinant GC completely reversed the delay in RBC clearance from all three types of GD hiPSC-macrophages, indicating that their functional defects were indeed caused by GC deficiency. However, treatment of induced macrophages with the chaperone isofagomine restored phagocytosed RBC clearance only partially, regardless of genotype. These findings are consistent with the known clinical efficacies of recombinant GC and isofagomine. We conclude that cell types derived from GD hiPSC can effectively recapitulate pathologic hallmarks of the disease.
MeSH term(s)	Cell Differentiation ; Cell Lineage ; Gaucher Disease/pathology ; Humans ; Macrophage Activation ; Models, Biological ; Pluripotent Stem Cells/cytology
Language	English
Publishing date	2012-10-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.1207889109
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Article ; Online: From Puzzle to Progress: How Engaging With Neurodiversity Can Improve Cognitive Science.

Manalili, Marie A R / Pearson, Amy / Sulik, Justin / Creechan, Louise / Elsherif, Mahmoud / Murkumbi, Inika / Azevedo, Flavio / Bonnen, Kathryn L / Kim, Judy S / Kording, Konrad / Lee, Julie J / Obscura, Manifold / Kapp, Steven K / Röer, Jan P / Morstead, Talia

Cognitive science

2023 Volume 47, Issue 2, Page(s) e13255

Abstract: In cognitive science, there is a tacit norm that phenomena such as cultural variation or synaesthesia are worthy examples of cognitive diversity that contribute to a better understanding of cognition, but that other forms of cognitive diversity (e.g., ... ...

Abstract	In cognitive science, there is a tacit norm that phenomena such as cultural variation or synaesthesia are worthy examples of cognitive diversity that contribute to a better understanding of cognition, but that other forms of cognitive diversity (e.g., autism, attention deficit hyperactivity disorder/ADHD, and dyslexia) are primarily interesting only as examples of deficit, dysfunction, or impairment. This status quo is dehumanizing and holds back much-needed research. In contrast, the neurodiversity paradigm argues that such experiences are not necessarily deficits but rather are natural reflections of biodiversity. Here, we propose that neurodiversity is an important topic for future research in cognitive science. We discuss why cognitive science has thus far failed to engage with neurodiversity, why this gap presents both ethical and scientific challenges for the field, and, crucially, why cognitive science will produce better theories of human cognition if the field engages with neurodiversity in the same way that it values other forms of cognitive diversity. Doing so will not only empower marginalized researchers but will also present an opportunity for cognitive science to benefit from the unique contributions of neurodivergent researchers and communities.
MeSH term(s)	Humans ; Cognition ; Attention Deficit Disorder with Hyperactivity/psychology ; Cognitive Science
Language	English
Publishing date	2023-02-21
Publishing country	United States
Document type	Letter
ZDB-ID	2002940-8
ISSN	1551-6709 ; 0364-0213
ISSN (online)	1551-6709
ISSN	0364-0213
DOI	10.1111/cogs.13255
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Article: From puzzle to progress

Manalili, Marie A. R. / Pearson, Amy / Sulik, Justin / Creechan, Louise / Elsherif, Mahmoud / Murkumbi, Inika / Azevedo, Flavio / Bonnen, Kathryn L. / Kim, Judy S. / Kording, Konrad / Lee, Julie J. / Obscura, Manifold / Kapp, Steven K. / Röer, Jan P. / Morstead, Talia

Cognitive Science

How engaging with neurodiversity can improve cognitive science

2023 Volume 47, Issue 2, Page(s) No

Title translation	Vom Puzzle zum Fortschritt: Wie die Beschäftigung mit Neurodiversität die kognitive Wissenschaft verbessern kann
Abstract	In cognitive science, there is a tacit norm that phenomena such as cultural variation or synaesthesia are worthy examples of cognitive diversity that contribute to a better understanding of cognition, but that other forms of cognitive diversity (e.g., autism, attention deficit hyperactivity disorder/ADHD, and dyslexia) are primarily interesting only as examples of deficit, dysfunction, or impairment. This status quo is dehumanizing and holds back much-needed research. In contrast, the neurodiversity paradigm argues that such experiences are not necessarily deficits but rather are natural reflections of biodiversity. Here, we propose that neurodiversity is an important topic for future research in cognitive science. We discuss why cognitive science has thus far failed to engage with neurodiversity, why this gap presents both ethical and scientific challenges for the field, and, crucially, why cognitive science will produce better theories of human cognition if the field engages with neurodiversity in the same way that it values other forms of cognitive diversity. Doing so will not only empower marginalized researchers but will also present an opportunity for cognitive science to benefit from the unique contributions of neurodivergent researchers and communities.
Keywords	Attention Deficit Disorder with Hyperactivity ; Aufmerksamkeitsstörung mit Hyperaktivität ; Autism Spectrum Disorders ; Autismus-Spektrum-Störungen ; Berufsethik ; Cognition ; Cognitive Ability ; Cognitive Science ; Dyslexia ; Epistemologie ; Epistemology ; Inklusion (Stichprobe) ; Kognition (Erkenntnisprozess) ; Kognitionswissenschaften ; Kognitive Fähigkeiten ; Legasthenie ; Neurodiversity ; Neurodiversität ; Professional Ethics ; Research Inclusivity ; Social Cognition ; Soziale Kognition
Language	English
Document type	Article
ZDB-ID	2002940-8
ISSN	1551-6709 ; 0364-0213
ISSN (online)	1551-6709
ISSN	0364-0213
DOI	10.1111/cogs.13255
Database	PSYNDEX

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Article: Genome Sequence of Corynebacterium pseudotuberculosis MB20 bv. equi Isolated from a Pectoral Abscess of an Oldenburg Horse in California.

Baraúna, Rafael A / Guimarães, Luís C / Veras, Adonney A O / de Sá, Pablo H C G / Graças, Diego A / Pinheiro, Kenny C / Silva, Andreia S S / Folador, Edson L / Benevides, Leandro J / Viana, Marcus V C / Carneiro, Adriana R / Schneider, Maria P C / Spier, Sharon J / Edman, Judy M / Ramos, Rommel T J / Azevedo, Vasco / Silva, Artur

Genome announcements

2014 Volume 2, Issue 6

Abstract: The genome of Corynebacterium pseudotuberculosis MB20 bv. equi was sequenced using the Ion Personal Genome Machine (PGM) platform, and showed a size of 2,363,089 bp, with 2,365 coding sequences and a GC content of 52.1%. These results will serve as a ... ...

Abstract	The genome of Corynebacterium pseudotuberculosis MB20 bv. equi was sequenced using the Ion Personal Genome Machine (PGM) platform, and showed a size of 2,363,089 bp, with 2,365 coding sequences and a GC content of 52.1%. These results will serve as a basis for further studies on the pathogenicity of C. pseudotuberculosis bv. equi.
Language	English
Publishing date	2014-11-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	2704277-7
ISSN	2169-8287
ISSN	2169-8287
DOI	10.1128/genomeA.00977-14
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Article ; Online: Reciprocal seasonal variation in vitamin D status and tuberculosis notifications in Cape Town, South Africa.

Martineau, Adrian R / Nhamoyebonde, Shepherd / Oni, Tolu / Rangaka, Molebogeng X / Marais, Suzaan / Bangani, Nonzwakazi / Tsekela, Relebohile / Bashe, Lizl / de Azevedo, Virginia / Caldwell, Judy / Venton, Timothy R / Timms, Peter M / Wilkinson, Katalin A / Wilkinson, Robert J

Proceedings of the National Academy of Sciences of the United States of America

2011 Volume 108, Issue 47, Page(s) 19013–19017

Abstract: ... hydroxyvitamin D [25(OH)D] <50 nmol/L) was present in 232 (62.7%) of 370 participants and was associated ... in July through September (56.8 vs. 30.7 nmol/L, respectively; P < 0.001). Reciprocal seasonal variation ...

Abstract	Vitamin D deficiency is associated with susceptibility to tuberculosis (TB) in HIV-uninfected people in Europe, but it is not known whether such an association exists among HIV-infected people in subtropical Africa. We conducted a cross-sectional study to determine whether vitamin D deficiency was associated with susceptibility to active TB in HIV-uninfected (n = 196) and HIV-infected (n = 174) black Africans in Cape Town, South Africa. We also investigated whether there was evidence of seasonal variation in vitamin D status and TB notifications in this setting over an 8-y period. Vitamin D deficiency (serum 25-hydroxyvitamin D [25(OH)D] <50 nmol/L) was present in 232 (62.7%) of 370 participants and was associated with active TB in both HIV-uninfected (odds ratio = 5.2, 95% confidence interval: 2.8-9.7; P < 0.001) and HIV-infected (odds ratio = 5.6, 95% confidence interval: 2.7-11.6; P < 0.001) people. Vitamin D status varied according to season: The mean serum 25(OH)D concentration was highest in January through March and lowest in July through September (56.8 vs. 30.7 nmol/L, respectively; P < 0.001). Reciprocal seasonal variation in TB notifications was observed: The mean number of TB notifications per quarter for Cape Town in 2003 to 2010 was lowest in April through June and highest in October through December (4,222 vs. 5,080; P < 0.001). Vitamin D deficiency is highly prevalent among black Africans in Cape Town and is associated with susceptibility to active TB both in the presence and absence of HIV infection. Reciprocal seasonal variation in serum 25(OH)D concentration and TB notifications suggests that seasonal variations in vitamin D status and TB incidence in this setting are causally related.
MeSH term(s)	Analysis of Variance ; Cross-Sectional Studies ; HIV Infections/complications ; HIV Infections/epidemiology ; Humans ; Odds Ratio ; Seasons ; South Africa/epidemiology ; Statistics, Nonparametric ; Tuberculosis/complications ; Tuberculosis/epidemiology ; Vitamin D/analogs & derivatives ; Vitamin D/blood ; Vitamin D Deficiency/complications ; Vitamin D Deficiency/epidemiology
Chemical Substances	Vitamin D (1406-16-2) ; 25-hydroxyvitamin D (A288AR3C9H)
Language	English
Publishing date	2011-10-24
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.1111825108
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Article: Genome Sequence of Corynebacterium pseudotuberculosis MB20 bv. equi Isolated from a Pectoral Abscess of an Oldenburg Horse in California

Baraúna, Rafael A / Guimarães, Luís C / Veras, Adonney A. O / de Sá, Pablo H. C. G / Graças, Diego A / Pinheiro, Kenny C / Silva, Andreia S. S / Folador, Edson L / Benevides, Leandro J / Viana, Marcus V. C / Carneiro, Adriana R / Schneider, Maria P. C / Spier, Sharon J / Edman, Judy M / Ramos, Rommel T. J / Azevedo, Vasco / Silva, Artur

Genome announcements. 2014 Dec. 24, v. 2, no. 6

2014

Abstract	The genome of Corynebacterium pseudotuberculosis MB20 bv. equi was sequenced using the Ion Personal Genome Machine (PGM) platform, and showed a size of 2,363,089 bp, with 2,365 coding sequences and a GC content of 52.1%. These results will serve as a basis for further studies on the pathogenicity of C. pseudotuberculosis bv. equi.
Keywords	Corynebacterium pseudotuberculosis ; Oldenburg (horse breed) ; abscess ; genome ; nucleotide sequences ; pathogenicity ; California
Language	English
Dates of publication	2014-1224
Size	p. e00977-14.
Publishing place	American Society for Microbiology
Document type	Article
ZDB-ID	2704277-7
ISSN	2169-8287
ISSN	2169-8287
DOI	10.1128/genomeA.00977-14
Database	NAL-Catalogue (AGRICOLA)

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Article: Reciprocal seasonal variation in vitamin D status and tuberculosis notifications in Cape Town, South Africa

Proceedings of the National Academy of Sciences of the United States of America. 2011 Nov. 22, v. 108, no. 47

2011

Abstract	Vitamin D deficiency is associated with susceptibility to tuberculosis (TB) in HIV-uninfected people in Europe, but it is not known whether such an association exists among HIV-infected people in subtropical Africa. We conducted a cross-sectional study to determine whether vitamin D deficiency was associated with susceptibility to active TB in HIV-uninfected (n = 196) and HIV-infected (n = 174) black Africans in Cape Town, South Africa. We also investigated whether there was evidence of seasonal variation in vitamin D status and TB notifications in this setting over an 8-y period. Vitamin D deficiency (serum 25-hydroxyvitamin D [25(OH)D] <50 nmol/L) was present in 232 (62.7%) of 370 participants and was associated with active TB in both HIV-uninfected (odds ratio = 5.2, 95% confidence interval: 2.8–9.7; P < 0.001) and HIV-infected (odds ratio = 5.6, 95% confidence interval: 2.7–11.6; P < 0.001) people. Vitamin D status varied according to season: The mean serum 25(OH)D concentration was highest in January through March and lowest in July through September (56.8 vs. 30.7 nmol/L, respectively; P < 0.001). Reciprocal seasonal variation in TB notifications was observed: The mean number of TB notifications per quarter for Cape Town in 2003 to 2010 was lowest in April through June and highest in October through December (4,222 vs. 5,080; P < 0.001). Vitamin D deficiency is highly prevalent among black Africans in Cape Town and is associated with susceptibility to active TB both in the presence and absence of HIV infection. Reciprocal seasonal variation in serum 25(OH)D concentration and TB notifications suggests that seasonal variations in vitamin D status and TB incidence in this setting are causally related.
Keywords	Africans ; confidence interval ; cross-sectional studies ; odds ratio ; seasonal variation ; tuberculosis ; vitamin D ; vitamin D deficiency ; South Africa
Language	English
Dates of publication	2011-1122
Size	p. 19013-19017.
Publishing place	National Academy of Sciences
Document type	Article
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
Database	NAL-Catalogue (AGRICOLA)

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Article: Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

Panicker, Leelamma M. / Miller, Diana / Park, Tea Soon / Patel, Brijesh / Azevedo, Judi L. / Awad, Ola / Masood, M. Athar / Veenstra, Timothy D. / Goldin, Ehud / Stubblefield, Barbara K. / Tayebi, Nahid / Polumuri, Swamy K. / Vogel, Stefanie N. / Sidransky, Ellen / Zambidis, Elias T. / Feldman, Ricardo A.

Proceedings of the National Academy of Sciences of the United States of America

Volume v. 109,, Issue no. 4

Abstract	Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocerebrosidase gene. To model GD, we generated human induced pluripotent stem cells (hiPSC), by reprogramming skin fibroblasts from patients with type 1 (N370S/N370S), type 2 (L444P/Rec NciI), and type 3 (L444P/L444P) GD. Pluripotency was demonstrated by the ability of GD hiPSC to differentiate to all three germ layers and to form teratomas in vivo. GD hiPSC differentiated efficiently to the cell types most affected in GD, i.e., macrophages and neuronal cells. GD hiPSC-macrophages expressed macrophage-specific markers, were phagocytic, and were capable of releasing inflammatory mediators in response to LPS. Moreover, GD hiPSC-macrophages recapitulated the phenotypic hallmarks of the disease. They exhibited low glucocerebrosidase (GC) enzymatic activity and accumulated sphingolipids, and their lysosomal functions were severely compromised. GD hiPSC-macrophages had a defect in their ability to clear phagocytosed RBC, a phenotype of tissue-infiltrating GD macrophages. The kinetics of RBC clearance by types 1, 2, and 3 GD hiPSC-macrophages correlated with the severity of the mutations. Incubation with recombinant GC completely reversed the delay in RBC clearance from all three types of GD hiPSC-macrophages, indicating that their functional defects were indeed caused by GC deficiency. However, treatment of induced macrophages with the chaperone isofagomine restored phagocytosed RBC clearance only partially, regardless of genotype. These findings are consistent with the known clinical efficacies of recombinant GC and isofagomine. We conclude that cell types derived from GD hiPSC can effectively recapitulate pathologic hallmarks of the disease.
Keywords	genes ; mutation ; induced pluripotent stem cells ; phenotype ; genotype ; models ; erythrocytes ; patients ; sphingolipids ; fibroblasts ; enzyme activity ; genetic disorders ; macrophages ; neurons
Language	English
Document type	Article
ISSN	0027-8424
Database	AGRIS - International Information System for the Agricultural Sciences and Technology

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