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Article ; Online: Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.

Mashima, Ryuichi / Takada, Shuji

International journal of molecular sciences

2022 Volume 23, Issue 24

Abstract: Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by ... ...

Abstract	Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the
MeSH term(s)	Humans ; Wolman Disease/diagnosis ; Wolman Disease/genetics ; Wolman Disease/metabolism ; Cholesterol Ester Storage Disease/diagnosis ; Cholesterol Ester Storage Disease/drug therapy ; Cholesterol Ester Storage Disease/metabolism ; Sterol Esterase/metabolism ; Hepatomegaly/drug therapy ; Wolman Disease
Chemical Substances	Sterol Esterase (EC 3.1.1.13)
Language	English
Publishing date	2022-12-08
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/ijms232415549
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Article ; Online: Lipid Nanoparticles: A Novel Gene Delivery Technique for Clinical Application.

Mashima, Ryuichi / Takada, Shuji

Current issues in molecular biology

2022 Volume 44, Issue 10, Page(s) 5013–5027

Abstract: Lipid nanoparticles (LNPs) are an emerging vehicle for gene delivery that accommodate both nucleic acid and protein. Based on the experience of therapeutic liposomes, current LNPs have been developed based on the chemistry of lipids and RNA and on the ... ...

Abstract	Lipid nanoparticles (LNPs) are an emerging vehicle for gene delivery that accommodate both nucleic acid and protein. Based on the experience of therapeutic liposomes, current LNPs have been developed based on the chemistry of lipids and RNA and on the biology of human disease. LNPs have been used for the development of Onpattro, an siRNA drug for transthyretin-mediated amyloidosis, in 2018. The subsequent outbreak of COVID-19 required a vaccine for its suppression. LNP-based vaccine production received much attention for this and resulted in great success. In this review, the essential technology of LNP gene delivery has been described according to the chemistry for LNP production and biology for its clinical application.
Language	English
Publishing date	2022-10-19
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2000024-8
ISSN	1467-3045 ; 1467-3037
ISSN (online)	1467-3045
ISSN	1467-3037
DOI	10.3390/cimb44100341
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Zs.A 5122: Show issues

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Article ; Online: RNA-Based Therapeutic Technology.

Mashima, Ryuichi / Takada, Shuji / Miyamoto, Yoshitaka

International journal of molecular sciences

2023 Volume 24, Issue 20

Abstract: RNA-based therapy has been an expanding area of clinical research since the COVID-19 outbreak. Often, its comparison has been made to DNA-based gene therapy, such as adeno-associated virus- and lentivirus-mediated therapy. These DNA-based therapies show ... ...

Abstract	RNA-based therapy has been an expanding area of clinical research since the COVID-19 outbreak. Often, its comparison has been made to DNA-based gene therapy, such as adeno-associated virus- and lentivirus-mediated therapy. These DNA-based therapies show persistent expression, with maximized therapeutic efficacy. However, accumulating data indicate that proper control of gene expression is occasionally required. For example, in cancer immunotherapy, cytokine response syndrome is detrimental for host animals, while excess activation of the immune system induces supraphysiological cytokines. RNA-based therapy seems to be a rather mild therapy, and it has room to fit unmet medical needs, whereas current DNA-based therapy has unclear issues. This review focused on RNA-based therapy for cancer immunotherapy, hematopoietic disorders, and inherited disorders, which have received attention for possible clinical applications.
MeSH term(s)	Animals ; RNA ; RNA, Small Nuclear/genetics ; Genetic Therapy ; DNA ; Neoplasms/genetics ; Neoplasms/therapy
Chemical Substances	RNA (63231-63-0) ; RNA, Small Nuclear ; DNA (9007-49-2)
Language	English
Publishing date	2023-10-16
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/ijms242015230
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Article ; Online: A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.

Mashima, Ryuichi / Ohira, Mari / Okuyama, Torayuki / Onodera, Masafumi / Takada, Shuji

Scientific reports

2023 Volume 13, Issue 1, Page(s) 7865

Abstract: Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body. Major manifestations involve the central nerve system (CNS), skeletal ... ...

Abstract	Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body. Major manifestations involve the central nerve system (CNS), skeletal deformation, and visceral manifestations. About 30% of MPS II is linked with an attenuated type of disease subtype with visceral involvement. In contrast, 70% of MPS II is associated with a severe type of disease subtype with CNS manifestations that are caused by the human iduronate-2-sulfatase (IDS)-Pro86Leu (P86L) mutation, a common missense mutation in MPS II. In this study, we reported a novel Ids-P88L MPS II mouse model, an analogous mutation to human IDS-P86L. In this mouse model, a significant impairment of IDS enzyme activity in the blood with a short lifespan was observed. Consistently, the IDS enzyme activity of the body, as assessed in the liver, kidney, spleen, lung, and heart, was significantly impaired. Conversely, the level of GAG was elevated in the body. A putative biomarker with unestablished nature termed UA-HNAc(1S) (late retention time), one of two UA-HNAc(1S) species with late retention time on reversed-phase separation,is a recently reported MPS II-specific biomarker derived from heparan sulfate with uncharacterized mechanism. Thus, we asked whether this biomarker might be elevated in our mouse model. We found a significant accumulation of this biomarker in the liver, suggesting that hepatic formation could be predominant. Finally, to examine whether gene therapy could enhance IDS enzyme activity in this model, the efficacy of the nuclease-mediated genome correction system was tested. We found a marginal elevation of IDS enzyme activity in the treated group, raising the possibility that the effect of gene correction could be assessed in this mouse model. In conclusion, we established a novel Ids-P88L MPS II mouse model that consistently recapitulates the previously reported phenotype in several mouse models.
MeSH term(s)	Animals ; Humans ; Mice ; Biomarkers ; Heparitin Sulfate ; Iduronate Sulfatase/genetics ; Iduronic Acid ; Mucopolysaccharidosis II/genetics ; Mutation ; Disease Models, Animal
Chemical Substances	Biomarkers ; Heparitin Sulfate (9050-30-0) ; Iduronate Sulfatase (EC 3.1.6.13) ; Iduronic Acid (3402-98-0)
Language	English
Publishing date	2023-05-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-023-34541-w
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Article ; Online: Modeling of Retina and Optic Nerve Ischemia-Reperfusion Injury through Hypoxia-Reoxygenation in Human Induced Pluripotent Stem Cell-Derived Retinal Ganglion Cells.

Yoshida, Tomoyo / Yokoi, Tadashi / Tanaka, Taku / Matsuzaka, Emiko / Saida, Yuki / Nishina, Sachiko / Takada, Shuji / Shimizu, Shigeomi / Azuma, Noriyuki

Cells

2024 Volume 13, Issue 2

Abstract: Retinal ganglion cells (RGCs) are specialized projection neurons that constitute part of the retina, and the death of RGCs causes various eye diseases, but the mechanism of RGC death is still unclear. Here, we induced cell death in human induced ... ...

Abstract	Retinal ganglion cells (RGCs) are specialized projection neurons that constitute part of the retina, and the death of RGCs causes various eye diseases, but the mechanism of RGC death is still unclear. Here, we induced cell death in human induced pluripotent stem cell (hiPSC)-derived RGC-rich retinal tissues using hypoxia-reoxygenation in vitro. Flow cytometry, immunochemistry, and Western blotting showed the apoptosis and necrosis of RGCs under hypoxia-reoxygenation, and they were rescued by an apoptosis inhibitor but not by a necrosis inhibitor. This revealed that the cell death induced in our model was mainly due to apoptosis. To our knowledge, this is the first model to reproduce ischemia-reperfusion in hiPSC-derived RGCs. Thus, the efficacy of apoptosis inhibitors and neuroprotective agents can be evaluated using this model, bringing us closer to clinical applications.
MeSH term(s)	Humans ; Retinal Ganglion Cells ; Induced Pluripotent Stem Cells ; Retina ; Optic Nerve ; Optic Neuropathy, Ischemic ; Reperfusion Injury ; Necrosis ; Hypoxia
Language	English
Publishing date	2024-01-11
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells13020130
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Article: Loss of NSD2 causes dysregulation of synaptic genes and altered H3K36 dimethylation in mice.

Kinoshita, Shiori / Kojima, Kazuaki / Ohnishi, Eriko / Takayama, Yuka / Kikuchi, Hiroki / Takada, Shuji / Nakabayashi, Kazuhiko / Kawai, Tomoko / Hata, Kenichiro

Frontiers in genetics

2024 Volume 15, Page(s) 1308234

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2024-02-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2024.1308234
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Article ; Online: LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion.

Abe, Taiki / Kanno, Shin-Ichiro / Niihori, Tetsuya / Terao, Miho / Takada, Shuji / Aoki, Yoko

Cell death & disease

2023 Volume 14, Issue 8, Page(s) 556

Abstract: Leucine zipper-like transcriptional regulator 1 (LZTR1), a substrate adaptor of Cullin 3 (CUL3)-based E3 ubiquitin ligase, regulates proteostasis of the RAS subfamily. Mutations in LZTR1 have been identified in patients with several types of cancer. ... ...

Abstract	Leucine zipper-like transcriptional regulator 1 (LZTR1), a substrate adaptor of Cullin 3 (CUL3)-based E3 ubiquitin ligase, regulates proteostasis of the RAS subfamily. Mutations in LZTR1 have been identified in patients with several types of cancer. However, the role of LZTR1 in tumor metastasis and the target molecules of LZTR1, excluding the RAS subfamily, are not clearly understood. Here, we show that LZTR1 deficiency increases tumor growth and metastasis. In lung adenocarcinoma cells, LZTR1 deficiency induced the accumulation of the RAS subfamily and enhanced cell proliferation, invasion, and xenograft tumor growth. Multi-omics analysis to clarify the pathways related to tumor progression showed that MAPK signaling, epithelial-mesenchymal transition (EMT), and extracellular matrix (ECM) remodeling-related gene ontology terms were enriched in LZTR1 knockout cells. Indeed, LZTR1 deficiency induced high expression of EMT markers under TGF-β1 treatment. Our search for novel substrates that interact with LZTR1 resulted in the discovery of a Kelch-like protein 12 (KLHL12), which is involved in collagen secretion. LZTR1 could inhibit KLHL12-mediated ubiquitination of SEC31A, a component of coat protein complex II (COPII), whereas LZTR1 deficiency promoted collagen secretion. LZTR1-RIT1 and LZTR1-KLHL12 worked independently regarding molecular interactions and did not directly interfere with each other. Further, we found that LZTR1 deficiency significantly increases lung metastasis and promotes ECM deposition around metastatic tumors. Since collagen-rich extracellular matrix act as pathways for migration and facilitate metastasis, increased expression of RAS and collagen deposition may exert synergistic or additive effects leading to tumor progression and metastasis. In conclusion, LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and promoting collagen secretion. The functional inhibition of KLHL12 by LZTR1 provides important evidence that LZTR1 may be a repressor of BTB-Kelch family members. These results provide clues to the mechanism of LZTR1-deficiency carcinogenesis.
MeSH term(s)	Humans ; Epithelial-Mesenchymal Transition/genetics ; Collagen ; Extracellular Matrix ; Adenocarcinoma of Lung/genetics ; Lung Neoplasms/genetics ; Adaptor Proteins, Signal Transducing ; Transcription Factors
Chemical Substances	Collagen (9007-34-5) ; KLHL12 protein, human ; Adaptor Proteins, Signal Transducing ; LZTR1 protein, human ; Transcription Factors
Language	English
Publishing date	2023-08-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2541626-1
ISSN	2041-4889 ; 2041-4889
ISSN (online)	2041-4889
ISSN	2041-4889
DOI	10.1038/s41419-023-06072-9
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Article ; Online: Genome editing for the reproduction and remedy of human diseases in mice.

Hara, Satoshi / Takada, Shuji

Journal of human genetics

2018 Volume 63, Issue 2, Page(s) 107–113

Abstract: With the recent progress in genome-editing technologies, such as the CRISPR/Cas9 system, genetically modified animals carrying nucleotide substitutions or large chromosomal rearrangements can be produced rapidly and at low cost. Such genome-editing ... ...

Abstract	With the recent progress in genome-editing technologies, such as the CRISPR/Cas9 system, genetically modified animals carrying nucleotide substitutions or large chromosomal rearrangements can be produced rapidly and at low cost. Such genome-editing techniques have been applied in the generation of animal models, especially mice, for reproducing human disease mutations, such as single-nucleotide polymorphisms (SNPs) or large chromosomal rearrangements identified by genome-wide screening analyses. While application methods are under development for various complex mutations involving genome editing for mimicking human disease-causing mutations in mice, functional studies of mouse models carrying replicated human mutations are gradually being published. In this review, we discuss the recent progress in application methods of the CRISPR/Cas9 system, focusing on the production of mouse models of diseases.
MeSH term(s)	Animals ; CRISPR-Cas Systems ; Chromosome Aberrations ; Disease Models, Animal ; Gene Editing/methods ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/therapy ; Genome-Wide Association Study/methods ; Humans ; Mice ; Mutation ; Polymorphism, Single Nucleotide
Language	English
Publishing date	2018-02
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-017-0360-4
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Article ; Online: SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees.

Ogawa, Yuya / Terao, Miho / Tsuji-Hosokawa, Atsumi / Tsuchiya, Iku / Hasegawa, Midori / Takada, Shuji

Human molecular genetics

2022 Volume 32, Issue 1, Page(s) 55–64

Abstract: Sox9 plays an essential role in mammalian testis formation. It has been reported that gene expression in the testes is regulated by enhancers. Among them, mXYSRa/Enh13-which is located at far upstream of the transcription start site-plays a critical role, ...

Abstract	Sox9 plays an essential role in mammalian testis formation. It has been reported that gene expression in the testes is regulated by enhancers. Among them, mXYSRa/Enh13-which is located at far upstream of the transcription start site-plays a critical role, wherein its deletion causes complete male-to-female sex reversal in mice. It has been proposed that the binding sites (BSs) of SOX9 and SRY, the latter of which is the sex determining gene on the Y chromosome, are associated with mXYSRa/Enh13. They function as an enhancer, whereby the sequences are evolutionarily conserved and in vivo binding of SOX9 and SRY to mXYSRa/Enh13 has been demonstrated previously. However, their precise in vivo functions have not been examined to date. To this end, this study generated mice with substitutions on the SOX9 and SRY BSs to reveal their in vivo functions. Homozygous mutants of SOX9 and SRY BS were indistinguishable from XY males, whereas double mutants had small testes, suggesting that these functions are redundant and that there is another functional sequence on mXYSRa/Enh13, since mXYSRa/Enh13 deletion mice are XY females. In addition, the majority of hemizygous mice with substitutions in SOX9 BS and SRY BS were female and male, respectively, suggesting that SOX9 BS contributes more to SRY BS for mXYSRa/Enh13 to function. The additive effect of SOX9 and SRY via these BSs was verified using an in vitro assay. In conclusion, SOX9 BS and SRY BS function redundantly in vivo, and at least one more functional sequence should exist in mXYSRa/Enh13.
MeSH term(s)	Animals ; Female ; Male ; Mice ; Binding Sites ; Gonadal Dysgenesis, 46,XY ; Mammals/metabolism ; Regulatory Sequences, Nucleic Acid ; Sex Determination Processes ; Sex-Determining Region Y Protein/genetics ; Sex-Determining Region Y Protein/metabolism ; SOX9 Transcription Factor/genetics ; SOX9 Transcription Factor/metabolism ; Testis/metabolism ; Genes, sry
Chemical Substances	Sex-Determining Region Y Protein ; SOX9 Transcription Factor ; Sox9 protein, mouse
Language	English
Publishing date	2022-08-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac184
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Article: Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II.

Yamazaki, Narutoshi / Ohira, Mari / Takada, Shuji / Ohtake, Akira / Onodera, Masafumi / Nakanishi, Mahito / Okuyama, Torayuki / Mashima, Ryuichi

Molecular genetics and metabolism reports

2023 Volume 37, Page(s) 101021

Abstract: Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders. ... ...

Abstract	Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders. These manifestations are closely associated with IDS enzyme activity, which catalyzes the stepwise degradation of heparan sulfate and dermatan sulfate. In this study, we established a novel
Language	English
Publishing date	2023-11-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2023.101021
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