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Article ; Online: Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.

Leal, Andrés Felipe / Alméciga-Díaz, Carlos Javier / Tomatsu, Shunji

International journal of molecular sciences

2023 Volume 24, Issue 22

Abstract: Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase ( ...

Abstract	Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (
MeSH term(s)	Humans ; Mice ; Animals ; Mucopolysaccharidosis IV ; Keratan Sulfate/metabolism ; Chondroitin Sulfates ; Chondrocytes/metabolism ; Disease Models, Animal ; Chondroitinsulfatases/genetics
Chemical Substances	Keratan Sulfate (9056-36-4) ; Chondroitin Sulfates (9007-28-7) ; Chondroitinsulfatases (EC 3.1.6.-) ; GALNS protein, human (EC 3.1.6.4)
Language	English
Publishing date	2023-11-09
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms242216148
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Current Strategies for Increasing Knock-In Efficiency in CRISPR/Cas9-Based Approaches.

Leal, Andrés Felipe / Herreno-Pachón, Angelica María / Benincore-Flórez, Eliana / Karunathilaka, Amali / Tomatsu, Shunji

International journal of molecular sciences

2024 Volume 25, Issue 5

Abstract: Since its discovery in 2012, the clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) system has supposed a promising panorama for developing novel and highly precise genome editing-based gene therapy ( ...

Abstract	Since its discovery in 2012, the clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) system has supposed a promising panorama for developing novel and highly precise genome editing-based gene therapy (GT) alternatives, leading to overcoming the challenges associated with classical GT. Classical GT aims to deliver transgenes to the cells via their random integration in the genome or episomal persistence into the nucleus through lentivirus (LV) or adeno-associated virus (AAV), respectively. Although high transgene expression efficiency is achieved by using either LV or AAV, their nature can result in severe side effects in humans. For instance, an LV (NCT03852498)- and AAV9 (NCT05514249)-based GT clinical trials for treating X-linked adrenoleukodystrophy and Duchenne Muscular Dystrophy showed the development of myelodysplastic syndrome and patient's death, respectively. In contrast with classical GT, the CRISPR/Cas9-based genome editing requires the homologous direct repair (HDR) machinery of the cells for inserting the transgene in specific regions of the genome. This sophisticated and well-regulated process is limited in the cell cycle of mammalian cells, and in turn, the nonhomologous end-joining (NHEJ) predominates. Consequently, seeking approaches to increase HDR efficiency over NHEJ is crucial. This manuscript comprehensively reviews the current alternatives for improving the HDR for CRISPR/Cas9-based GTs.
MeSH term(s)	Animals ; Humans ; CRISPR-Cas Systems ; Recombinational DNA Repair ; DNA End-Joining Repair ; Gene Editing ; Genetic Therapy ; Mammals/genetics
Language	English
Publishing date	2024-02-20
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25052456
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Article ; Online: Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy.

Ago, Yasuhiko / Rintz, Estera / Musini, Krishna Sai / Ma, Zhengyu / Tomatsu, Shunji

International journal of molecular sciences

2024 Volume 25, Issue 2

Abstract: Mucopolysaccharidoses (MPSs) are a group of inborn errors of the metabolism caused by a deficiency in the lysosomal enzymes required to break down molecules called glycosaminoglycans (GAGs). These GAGs accumulate over time in various tissues and disrupt ... ...

Abstract	Mucopolysaccharidoses (MPSs) are a group of inborn errors of the metabolism caused by a deficiency in the lysosomal enzymes required to break down molecules called glycosaminoglycans (GAGs). These GAGs accumulate over time in various tissues and disrupt multiple biological systems, including catabolism of other substances, autophagy, and mitochondrial function. These pathological changes ultimately increase oxidative stress and activate innate immunity and inflammation. We have described the pathophysiology of MPS and activated inflammation in this paper, starting with accumulating the primary storage materials, GAGs. At the initial stage of GAG accumulation, affected tissues/cells are reversibly affected but progress irreversibly to: (1) disruption of substrate degradation with pathogenic changes in lysosomal function, (2) cellular dysfunction, secondary/tertiary accumulation (toxins such as GM2 or GM3 ganglioside, etc.), and inflammatory process, and (3) progressive tissue/organ damage and cell death (e.g., skeletal dysplasia, CNS impairment, etc.). For current and future treatment, several potential treatments for MPS that can penetrate the blood-brain barrier and bone have been proposed and/or are in clinical trials, including targeting peptides and molecular Trojan horses such as monoclonal antibodies attached to enzymes via receptor-mediated transport. Gene therapy trials with AAV, ex vivo LV, and Sleeping Beauty transposon system for MPS are proposed and/or underway as innovative therapeutic options. In addition, possible immunomodulatory reagents that can suppress MPS symptoms have been summarized in this review.
MeSH term(s)	Humans ; Therapies, Investigational ; Mucopolysaccharidoses/genetics ; Mucopolysaccharidoses/therapy ; Osteochondrodysplasias ; Antibodies, Monoclonal ; Glycosaminoglycans ; Inflammation
Chemical Substances	Antibodies, Monoclonal ; Glycosaminoglycans
Language	English
Publishing date	2024-01-17
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25021113
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Article ; Online: Detection of Glycosaminoglycans in Biological Specimens.

Khan, Shaukat A / Nidhi, F N U / Amendum, Paige C / Tomatsu, Shunji

Methods in molecular biology (Clifton, N.J.)

2023 Volume 2619, Page(s) 3–24

Abstract: Proteoglycans (PGs) are macromolecules formed by a protein backbone to which one or more glycosaminoglycan (GAG) side chains are covalently attached. Most PGs are present in connective tissues, cell surfaces, and intracellular compartments. The major ... ...

Abstract	Proteoglycans (PGs) are macromolecules formed by a protein backbone to which one or more glycosaminoglycan (GAG) side chains are covalently attached. Most PGs are present in connective tissues, cell surfaces, and intracellular compartments. The major biological function of PGs derives from the GAG component of the molecule, which is involved in cell growth and proliferation, embryogenesis, maintenance of tissue hydration, and interactions of the cells via receptors. PGs are categorized into four groups based on their cellular and subcellular localization, including cell surfaces and extracellular, intracellular, and pericellular locations. GAGs are a crucial component of PGs involved in various physiological and pathological processes. GAGs also serve as biomarkers of metabolic diseases such as mucopolysaccharidoses and mucolipidoses. Detection of specific GAGs in various biological fluids helps manage various genetic metabolic disorders before it causes irreversible damage to the patient (Amendum et al., Diagnostics (Basel) 11(9):1563, 2021). There are several methods for detecting GAGs; this chapter focuses on measuring GAGs using enzyme-linked immunosorbent assay, liquid chromatographic tandem mass spectrometry, and automated high-throughput mass spectrometry.
MeSH term(s)	Humans ; Glycosaminoglycans/chemistry ; Proteoglycans/metabolism ; Chromatography, Liquid ; Cell Membrane/metabolism ; Tandem Mass Spectrometry
Chemical Substances	Glycosaminoglycans ; Proteoglycans
Language	English
Publishing date	2023-01-18
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-0716-2946-8_1
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Article ; Online: Molecular Mechanism of Induction of Bone Growth by the C-Type Natriuretic Peptide.

Rintz, Estera / Węgrzyn, Grzegorz / Fujii, Toshihito / Tomatsu, Shunji

International journal of molecular sciences

2022 Volume 23, Issue 11

Abstract: The skeletal development process in the body occurs through sequential cellular and molecular processes called endochondral ossification. Endochondral ossification occurs in the growth plate where chondrocytes differentiate from resting, proliferative, ... ...

Abstract	The skeletal development process in the body occurs through sequential cellular and molecular processes called endochondral ossification. Endochondral ossification occurs in the growth plate where chondrocytes differentiate from resting, proliferative, hypertrophic to calcified zones. Natriuretic peptides (NPTs) are peptide hormones with multiple functions, including regulation of blood pressure, water-mineral balance, and many metabolic processes. NPTs secreted from the heart activate different tissues and organs, working in a paracrine or autocrine manner. One of the natriuretic peptides, C-type natriuretic peptide-, induces bone growth through several mechanisms. This review will summarize the knowledge, including the newest discoveries, of the mechanism of CNP activation in bone growth.
MeSH term(s)	Bone Development ; Chondrocytes/metabolism ; Growth Plate/metabolism ; Natriuretic Peptide, C-Type/metabolism ; Osteogenesis
Chemical Substances	Natriuretic Peptide, C-Type (127869-51-6)
Language	English
Publishing date	2022-05-25
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23115916
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Article: Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice.

Leal, Andrés Felipe / Celik, Betul / Fnu, Nidhi / Khan, Shaukat / Tomatsu, Shunji / Alméciga-Díaz, Carlos Javier

Molecular therapy. Methods & clinical development

2023 Volume 31, Page(s) 101153

Abstract: Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in ... ...

Abstract	Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the
Language	English
Publishing date	2023-11-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2872938-9
ISSN	2329-0501 ; 2329-0501
ISSN (online)	2329-0501
ISSN	2329-0501
DOI	10.1016/j.omtm.2023.101153
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Article ; Online: Molecular Mechanism of Induction of Bone Growth by the C-Type Natriuretic Peptide

Estera Rintz / Grzegorz Węgrzyn / Toshihito Fujii / Shunji Tomatsu

International Journal of Molecular Sciences, Vol 23, Iss 5916, p

2022 Volume 5916

Abstract	The skeletal development process in the body occurs through sequential cellular and molecular processes called endochondral ossification. Endochondral ossification occurs in the growth plate where chondrocytes differentiate from resting, proliferative, hypertrophic to calcified zones. Natriuretic peptides (NPTs) are peptide hormones with multiple functions, including regulation of blood pressure, water-mineral balance, and many metabolic processes. NPTs secreted from the heart activate different tissues and organs, working in a paracrine or autocrine manner. One of the natriuretic peptides, C-type natriuretic peptide-, induces bone growth through several mechanisms. This review will summarize the knowledge, including the newest discoveries, of the mechanism of CNP activation in bone growth.
Keywords	natriuretic peptide ; growth plate ; chondrocyte cell ; bone growth ; molecular mechanism ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	540
Language	English
Publishing date	2022-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Epidemiology of Mucopolysaccharidoses Update.

Çelik, Betul / Tomatsu, Saori C / Tomatsu, Shunji / Khan, Shaukat A

Diagnostics (Basel, Switzerland)

2021 Volume 11, Issue 2

Abstract: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs. If not treated at an early stage, patients have ... ...

Abstract	Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs. If not treated at an early stage, patients have various health problems, affecting their quality of life and life-span. Two therapeutic options for MPS are widely used in practice: enzyme replacement therapy and hematopoietic stem cell transplantation. However, early diagnosis of MPS is crucial, as treatment may be too late to reverse or ameliorate the disease progress. It has been noted that the prevalence of MPS and each subtype varies based on geographic regions and/or ethnic background. Each type of MPS is caused by a wide range of the mutational spectrum, mainly missense mutations. Some mutations were derived from the common founder effect. In the previous study, Khan et al. 2018 have reported the epidemiology of MPS from 22 countries and 16 regions. In this study, we aimed to update the prevalence of MPS across the world. We have collected and investigated 189 publications related to the prevalence of MPS via PubMed as of December 2020. In total, data from 33 countries and 23 regions were compiled and analyzed. Saudi Arabia provided the highest frequency of overall MPS because of regional or consanguineous marriages (or founder effect), followed by Portugal, Brazil, the Netherlands, and Australia. The newborn screening is an efficient and early diagnosis for MPS. MPS I has been approved for newborn screening in the United States. After the newborn screening of MPS I, the frequency of MPS I increased, compared with the past incidence rates. Overall, we conclude that the current identification methods are not enough to recognize all MPS patients, leading to an inaccurate incidence and status. Differences in ethnic background and/or founder effects impact on the frequency of MPS, which affects the prevalence of MPS. Two-tier newborn screening has accelerated early recognition of MPS I, providing an accurate incidence of patients.
Language	English
Publishing date	2021-02-10
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics11020273
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Article ; Online: Regulation of Molecular Targets in Osteosarcoma Treatment.

Celik, Betul / Cicek, Kader / Leal, Andrés Felipe / Tomatsu, Shunji

International journal of molecular sciences

2022 Volume 23, Issue 20

Abstract: The most prevalent malignant bone tumor, osteosarcoma, affects the growth plates of long bones in adolescents and young adults. Standard chemotherapeutic methods showed poor response rates in patients with recurrent and metastatic phases. Therefore, it ... ...

Abstract	The most prevalent malignant bone tumor, osteosarcoma, affects the growth plates of long bones in adolescents and young adults. Standard chemotherapeutic methods showed poor response rates in patients with recurrent and metastatic phases. Therefore, it is critical to develop novel and efficient targeted therapies to address relapse cases. In this regard, RNA interference technologies are encouraging options in cancer treatment, in which small interfering RNAs regulate the gene expression following RNA interference pathways. The determination of target tissue is as important as the selection of tissue-specific promoters. Moreover, small interfering RNAs should be delivered effectively into the cytoplasm. Lentiviral vectors could encapsulate and deliver the desired gene into the cell and integrate it into the genome, providing long-term regulation of targeted genes. Silencing overexpressed genes promote the tumor cells to lose invasiveness, prevents their proliferation, and triggers their apoptosis. The uniqueness of cancer cells among patients requires novel therapeutic methods that treat patients based on their unique mutations. Several studies showed the effectiveness of different approaches such as microRNA, drug- or chemotherapy-related methods in treating the disease; however, identifying various targets was challenging to understanding disease progression. In this regard, the patient-specific abnormal gene might be targeted using genomics and molecular advancements such as RNA interference approaches. Here, we review potential therapeutic targets for the RNA interference approach, which is applicable as a therapeutic option for osteosarcoma patients, and we point out how the small interfering RNA method becomes a promising approach for the unmet challenge.
MeSH term(s)	Humans ; Adolescent ; RNA, Small Interfering/genetics ; Neoplasm Recurrence, Local/genetics ; Osteosarcoma/drug therapy ; Osteosarcoma/genetics ; RNA Interference ; Bone Neoplasms/drug therapy ; Bone Neoplasms/genetics ; MicroRNAs/genetics ; RNA, Double-Stranded ; Cell Line, Tumor
Chemical Substances	RNA, Small Interfering ; MicroRNAs ; RNA, Double-Stranded
Language	English
Publishing date	2022-10-20
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms232012583
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Article ; Online: Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model.

Sawamoto, Kazuki / Tomatsu, Shunji

International journal of molecular sciences

2019 Volume 20, Issue 17

Abstract: Mucopolysaccharidosis IVA (MPS IVA) is caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Conventional enzyme replacement therapy (ERT) is approved for MPS IVA. However, the fact that the infused enzyme ... ...

Abstract	Mucopolysaccharidosis IVA (MPS IVA) is caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Conventional enzyme replacement therapy (ERT) is approved for MPS IVA. However, the fact that the infused enzyme cannot penetrate avascular lesions in cartilage leads to minimal impact on the bone lesion. Moreover, short half-life, high cost, instability, and narrow optimal pH range remain unmet challenges in ERT. Thermostable keratanase, endo-β-
MeSH term(s)	Animals ; Biomarkers ; Disease Models, Animal ; Enzyme Replacement Therapy ; Enzyme Stability ; Glycosaminoglycans/metabolism ; Glycoside Hydrolases/administration & dosage ; Glycoside Hydrolases/chemistry ; Glycoside Hydrolases/isolation & purification ; Male ; Mice ; Mice, Knockout ; Mucopolysaccharidosis IV/enzymology ; Mucopolysaccharidosis IV/etiology ; Mucopolysaccharidosis IV/metabolism ; Mucopolysaccharidosis IV/therapy ; Recombinant Proteins ; Substrate Specificity ; Temperature ; Treatment Outcome
Chemical Substances	Biomarkers ; Glycosaminoglycans ; Recombinant Proteins ; Glycoside Hydrolases (EC 3.2.1.-) ; keratan-sulfate endo-1,4-beta-galactosidase (EC 3.2.1.103)
Language	English
Publishing date	2019-08-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms20174139
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