LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 37

Search options

  1. Article ; Online: Invertebrate models of lamin diseases.

    Rzepecki, Ryszard / Gruenbaum, Yosef

    Nucleus (Austin, Tex.)

    2018  Volume 9, Issue 1, Page(s) 227–234

    Abstract: Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous ... ...

    Abstract Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Most laminopathies arise from autosomal dominant missense mutations. Many of the mutant residues are conserved in the lamin genes of the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster. Our current understanding of the mechanisms leading to these diseases is mostly based on patients cell lines and animal models including C. elegans and D. melanogaster. The simpler lamin system and the powerful genetic tools offered by these invertebrate organisms greatly contributed to such studies. Here we provide an overview of the studies of laminopathies in Drosophila and C. elegans models.
    MeSH term(s) Animals ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Disease Models, Animal ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Humans ; Lamins/genetics ; Lamins/metabolism ; Musculoskeletal Diseases/genetics ; Musculoskeletal Diseases/metabolism ; Mutation
    Chemical Substances Lamins
    Language English
    Publishing date 2018-03-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2619626-8
    ISSN 1949-1042 ; 1949-1034
    ISSN (online) 1949-1042
    ISSN 1949-1034
    DOI 10.1080/19491034.2018.1454166
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1.

    Machowska, Magdalena / Bearzi, Claudia / Piekarowicz, Katarzyna / Łaczmańska, Izabela / Rzepecki, Ryszard

    Stem cell research

    2021  Volume 55, Page(s) 102487

    Abstract: Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients ... ...

    Abstract Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac or muscle cells. Obtained iPSCs show the proper morphology, pluripotency markers expression, normal karyotype and potential to differentiate into three germ layers.
    MeSH term(s) Cell Differentiation ; Cells, Cultured ; Clone Cells ; Humans ; Induced Pluripotent Stem Cells ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Mutation
    Language English
    Publishing date 2021-08-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2021.102487
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article: Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.

    Piekarowicz, Katarzyna / Machowska, Magdalena / Dzianisava, Volha / Rzepecki, Ryszard

    Cells

    2019  Volume 8, Issue 2

    Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies-a heterogeneous group of genetic diseases with a molecular background based on mutations in ... ...

    Abstract Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies-a heterogeneous group of genetic diseases with a molecular background based on mutations in the
    MeSH term(s) Animals ; Disease Models, Animal ; Genetic Predisposition to Disease ; Genetic Therapy/trends ; Humans ; Phenotype ; Progeria/genetics ; Progeria/therapy
    Language English
    Publishing date 2019-01-25
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells8020088
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article: Invertebrate models of lamin diseases

    Rzepecki, Ryszard / Gruenbaum, Yosef

    Nucleus. 2018 Dec. 31, v. 9, no. 1

    2018  

    Abstract: Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous ... ...

    Abstract Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Most laminopathies arise from autosomal dominant missense mutations. Many of the mutant residues are conserved in the lamin genes of the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster. Our current understanding of the mechanisms leading to these diseases is mostly based on patients cell lines and animal models including C. elegans and D. melanogaster. The simpler lamin system and the powerful genetic tools offered by these invertebrate organisms greatly contributed to such studies. Here we provide an overview of the studies of laminopathies in Drosophila and C. elegans models.
    Keywords Caenorhabditis elegans ; Drosophila melanogaster ; fruit flies ; genes ; genetic disorders ; humans ; invertebrates ; muscles ; mutants ; neurons
    Language English
    Dates of publication 2018-1231
    Size p. 227-234.
    Publishing place Taylor & Francis
    Document type Article
    ZDB-ID 2619626-8
    ISSN 1949-1042 ; 1949-1034
    ISSN (online) 1949-1042
    ISSN 1949-1034
    DOI 10.1080/19491034.2018.1454166
    Database NAL-Catalogue (AGRICOLA)

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1

    Magdalena Machowska / Claudia Bearzi / Katarzyna Piekarowicz / Izabela Łaczmańska / Ryszard Rzepecki

    Stem Cell Research, Vol 55, Iss , Pp 102487- (2021)

    2021  

    Abstract: Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients ... ...

    Abstract Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac or muscle cells. Obtained iPSCs show the proper morphology, pluripotency markers expression, normal karyotype and potential to differentiate into three germ layers.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-08-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  6. Article ; Online: Novel pegylated liposomal formulation of docetaxel with 3-n-pentadecylphenol derivative for cancer therapy.

    Zawilska, Patrycja / Machowska, Magdalena / Wisniewski, Krzysztof / Grynkiewicz, Grzegorz / Hrynyk, Rafal / Rzepecki, Ryszard / Gubernator, Jerzy

    European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences

    2021  Volume 163, Page(s) 105838

    Abstract: The taxanes are commonly used in the treatment of many types of cancer. The disadvantages of using taxanes in therapy are their low solubility in water, the toxicity or relatively poor pharmacokinetics of existing formulations. Using liposomes as ... ...

    Abstract The taxanes are commonly used in the treatment of many types of cancer. The disadvantages of using taxanes in therapy are their low solubility in water, the toxicity or relatively poor pharmacokinetics of existing formulations. Using liposomes as carriers would help in overcoming these problems, however, their use is limited by the low incorporation efficiency of taxane molecules within bilayer and by subsequent drug crystallization. Most of published taxanes liposomal formulations use natural soy phosphatidylcholine (PC) as main liposomes lipid. This allows a relatively good drug retention during the liposomes storage, but on the other hand, the use of liposomes with more liquid bilayer facilitates fast drug release after its intravenous administration. In order to decrease the drug release from liposomes in circulation, we used pegylated HSPC (hydrogenated soy PC) liposomes containing a novel synthetic 3-n-pentadecylphenol derivative - KW101, that showed a remarkably stabilizing action for the docetaxel (DTX) dopped HSPC liposomes over 30 days, expressed by the inhibition of DTX crystallization. The resulting liposomes with DTX showed similar cytotoxicity on MCF-7 and MDA-MB-231 breast cancer cell lines and higher toxicity in drug-resistant NCI/ADR-RES cell line in comparison with the free DTX. Moreover, this formulation has good pharmacokinetics in mice, in comparison to control pegylated DTX formulation composed of egg phosphatidylcholine (ePC). This novel liposomal formulation of docetaxel consisting of HSPC with the stabilizing compound KW101, appears to be a promising carrier for DTX cancer therapy.
    MeSH term(s) Animals ; Antineoplastic Agents ; Cell Line, Tumor ; Docetaxel ; Drug Liberation ; Humans ; Liposomes ; MCF-7 Cells ; Mice ; Neoplasms ; Polyethylene Glycols
    Chemical Substances Antineoplastic Agents ; Liposomes ; Docetaxel (15H5577CQD) ; Polyethylene Glycols (3WJQ0SDW1A)
    Language English
    Publishing date 2021-04-14
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1154366-8
    ISSN 1879-0720 ; 0928-0987
    ISSN (online) 1879-0720
    ISSN 0928-0987
    DOI 10.1016/j.ejps.2021.105838
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3705: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

    Katarzyna Piekarowicz / Magdalena Machowska / Volha Dzianisava / Ryszard Rzepecki

    Cells, Vol 8, Iss 2, p

    2019  Volume 88

    Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies—a heterogeneous group of genetic diseases with a molecular background based on mutations in the LMNA gene and genes coding for interacting proteins. HGPS ... ...

    Abstract Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies—a heterogeneous group of genetic diseases with a molecular background based on mutations in the LMNA gene and genes coding for interacting proteins. HGPS is characterized by the presence of aging-associated symptoms, including lack of subcutaneous fat, alopecia, swollen veins, growth retardation, age spots, joint contractures, osteoporosis, cardiovascular pathology, and death due to heart attacks and strokes in childhood. LMNA codes for two major, alternatively spliced transcripts, give rise to lamin A and lamin C proteins. Mutations in the LMNA gene alone, depending on the nature and location, may result in the expression of abnormal protein or loss of protein expression and cause at least 11 disease phenotypes, differing in severity and affected tissue. LMNA gene-related HGPS is caused by a single mutation in the LMNA gene in exon 11. The mutation c.1824C > T results in activation of the cryptic donor splice site, which leads to the synthesis of progerin protein lacking 50 amino acids. The accumulation of progerin is the reason for appearance of the phenotype. In this review, we discuss current knowledge on the molecular mechanisms underlying the development of HGPS and provide a critical analysis of current research trends in this field. We also discuss the mouse models available so far, the current status of treatment of the disease, and future prospects for the development of efficient therapies, including gene therapy for HGPS.
    Keywords HGPS ; laminopathy ; lamin A/C ; progerin ; gene therapy ; miR9 ; Biology (General) ; QH301-705.5
    Subject code 572
    Language English
    Publishing date 2019-01-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  8. Article: Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients.

    Dubińska-Magiera, Magda / Kozioł, Katarzyna / Machowska, Magdalena / Piekarowicz, Katarzyna / Filipczak, Daria / Rzepecki, Ryszard

    Cells

    2019  Volume 8, Issue 3

    Abstract: Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes. Mutations in the ... ...

    Abstract Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes. Mutations in the human
    MeSH term(s) Antibodies/metabolism ; Cell Cycle ; Centrosome/metabolism ; DNA-Binding Proteins/metabolism ; Epitopes/metabolism ; Gene Deletion ; HeLa Cells ; Humans ; Lamin Type A/metabolism ; Membrane Proteins/deficiency ; Membrane Proteins/metabolism ; Microtubules/metabolism ; Mitosis ; Muscular Dystrophy, Emery-Dreifuss/pathology ; Nuclear Lamina/pathology ; Nuclear Proteins/deficiency ; Nuclear Proteins/metabolism ; Phenotype ; Protein Binding ; Spindle Apparatus/metabolism ; Tubulin/metabolism
    Chemical Substances Antibodies ; BANF1 protein, human ; DNA-Binding Proteins ; Epitopes ; Lamin Type A ; Membrane Proteins ; Nuclear Proteins ; Tubulin ; emerin
    Language English
    Publishing date 2019-03-13
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2661518-6
    ISSN 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells8030240
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Correction to: Xenopus LAP2β protein knockdown affects location of Lamin B and nucleoporins and has effect on assembly of cell nucleus and cell viability.

    Dubińska-Magiera, Magda / Chmielewska, Magdalena / Kozioł, Katarzyna / Machowska, Magdalena / Hutchison, Christopher J / Goldberg, Martin W / Rzepecki, Ryszard

    Protoplasma

    2019  Volume 257, Issue 1, Page(s) 331–332

    Abstract: The original publication of this paper contains a mistake. ...

    Abstract The original publication of this paper contains a mistake.
    Language English
    Publishing date 2019-12-20
    Publishing country Austria
    Document type Journal Article ; Published Erratum
    ZDB-ID 123809-7
    ISSN 1615-6102 ; 0033-183X
    ISSN (online) 1615-6102
    ISSN 0033-183X
    DOI 10.1007/s00709-019-01474-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2366: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Acute Phase Proteins for Monitoring Hematopoietic Recovery After Early Engrafting of CD34+ Peripheral-Blood-Stem-Cells for Autografting or Allografting in Patients with Malignant Diseases.

    Gawroński, Krzysztof / Tomasiuk, Ryszard / Wcisło, Gabriel / Rzepecki, Piotr / Wajs, Jarosław

    Annals of transplantation

    2017  Volume 22, Page(s) 323–332

    Abstract: BACKGROUND Neutropenic fever (NF) is associated with delayed engraftment after peripheral blood stem cell transplantation (PBSCT). MATERIAL AND METHODS We followed the levels of acute-phase proteins (APPs) serially in 60 patients after peripheral blood ... ...

    Abstract BACKGROUND Neutropenic fever (NF) is associated with delayed engraftment after peripheral blood stem cell transplantation (PBSCT). MATERIAL AND METHODS We followed the levels of acute-phase proteins (APPs) serially in 60 patients after peripheral blood stem-cell autograft (n=39) or peripheral blood stem-cell allograft (n=21) for hematologic malignancies and germinal tumors; we then examined the correlation of those levels with the presence of fever and with markers of engraftment. RESULTS Fever (present in 60% of patients) was associated with a highly statistically significant delay in reaching conventional engraftment targets (ANC >500/μL [0.5×10^9/L]; platelets >20,000/μL [20×10^9/L]; reticulocytes >20,000/μL [20×10^9/L]) (for all associations, p<0.001). Every 4th day for 24 days, we measured the APPs levels and the number of neutrophils (ANC), platelets (PL), and reticulocytes (RET) to reach the reference values of >0.5 G/L or >1.0 G/L for ANC, >20 G/L or >50 G/L for PL, and >20 G/L for RET, respectively. The presence of NF resulted in longer time to engraft hematopoietic stem cells with ANC, PL, and PET counts statistically significant (range 0.001-0.004). The median day range for NF patients was 21.22-26.89 versus 13.88-19.13 for no NF patients. CONCLUSIONS Our results provide additional information for monitoring hematopoietic engraftment in patients following PBSCT; the presence of NF can be tracked by serial measurements in serum of three investigated APPs throughout an early phase of hematopoietic recovery.
    MeSH term(s) Acute-Phase Proteins/analysis ; Adult ; Female ; Fever/blood ; Hematologic Neoplasms/blood ; Hematologic Neoplasms/therapy ; Hematopoietic Stem Cell Transplantation/methods ; Hematopoietic Stem Cells ; Humans ; Male ; Middle Aged ; Peripheral Blood Stem Cell Transplantation/methods ; Treatment Outcome ; Young Adult
    Chemical Substances Acute-Phase Proteins
    Language English
    Publishing date 2017-05-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1484710-3
    ISSN 2329-0358 ; 1425-9524
    ISSN (online) 2329-0358
    ISSN 1425-9524
    DOI 10.12659/aot.901420
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5093: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top