Article
Multidisciplinary Sciences
Miguel Rodriguez de Los Santos, Marion Rivalan, Friederike S. David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Bjorn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N. Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J. Becker, Dietmar Schmitz, York Winter, Peter M. Krawitz
Summary: Pathogenic germline mutations in PIGV lead to glycosylphosphatidylinositol biosynthesis deficiency (GPIBD). By introducing the prevalent hypomorphic missense mutation found in European patients into mice, researchers successfully created a mouse model that mirrors the cognitive impairments, motor deficits, and other symptoms observed in human patients. The study provides insights into the pathophysiology of GPIBD and the role of GPI-anchor-related pathways in brain development.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Sebastian Knusel, Aurelio Jenni, Mattias Benninger, Peter Butikofer, Isabel Roditi
Summary: Glycosylphosphatidylinositol (GPI)-linked molecules play a crucial role in the infectivity and transmission of eukaryotic pathogens. A study showed that TbGPI8 is essential for social motility (SoMo) in early procyclic forms of Trypanosoma brucei. This finding provides possible explanations for the failure of TbGPI8 deletion mutants to establish a midgut infection in tsetse flies.
MOLECULAR MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Hongwei Zhang, Jiawei Su, Bin Li, Yiwei Gao, Mengran Liu, Lingli He, Hao Xu, Yanli Dong, Xuejun Cai Zhang, Yan Zhao
Summary: The GPI transamidase (GPIT) complex plays an important role in attaching GPI to proteins, facilitating the maturation of GPI-anchored proteins. The complex is composed of five subunits, with PIGK acting as the catalytic component and transmembrane helices serving as the GPI substrate-binding site. The ubiquitin E3 ligase RNF121 is also present, potentially functioning as a quality control factor for the GPIT complex.
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2022)
Article
Agriculture, Dairy & Animal Science
Qin Liu, Xueyan Zhan, Dongfang Li, Junlong Zhao, Haiyong Wei, Heba Alzan, Lan He
Summary: A novel BgGPI52-WH antigen was identified as a potential immunodiagnostic marker and iELISA method was established for early diagnosis with good sensitivity. Clinical samples showed a positive rate of approximately 11.41%.
Article
Cell Biology
Rebecca J. Noort, Grace A. Christopher, Jessica L. Esseltine
Summary: Cell-cell communication through Pannexin channels is important for local organization of activities within tissues. PANX1 expression is found in human oocytes, early embryos, iPSCs, and their derived germ lineages, with differential glycosylation patterns and subcellular localization across the germ lineages. Knockout of PANX1 in iPSCs does not impact morphology, survival, or pluripotency gene expression, but leads to lineage specification bias during spontaneous differentiation, with increased representation of endodermal and mesodermal populations. However, PANX1 knockout iPSCs can still differentiate into specific lineages when exposed to appropriate external signaling pressures, indicating that PANX1 influences germ lineage specification but is not essential for the process.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Smrithi Salian, Xin-Yu Guo, Yoshiko Murakami, Taroh Kinoshita, Parneet Kaur, Anju Shukla, Katta M. Girisha, Morihisa Fujita, Philippe M. Campeau
Summary: We identified a pathogenic variant in the C18orf32 gene as the cause of a novel autosomal recessive neurodevelopmental disorder. Our study demonstrates the importance of C18orf32 in GPI-anchor biosynthesis, the functional and localization abnormalities of the mutant C18orf32 protein.
Article
Medicine, Research & Experimental
Songzhe He, Tao Li, Hao Feng, Jiaxiang Du, David K. C. Cooper, Hidetaka Hara, Hongtao Jiang, Dengke Pan, Gang Chen, Yi Wang
Summary: This study investigated the occurrence of antibodies to unknown pig xenoantigens in different human groups. The results showed the presence of IgM antibodies against TKO/hCD55 pig peripheral blood mononuclear cells (PBMCs) in healthy individuals, patients with end-stage renal disease (ESRD), and renal transplant recipients. These antibodies may be reacting to swine leukocyte antigens.
XENOTRANSPLANTATION
(2023)
Article
Biology
Tao Ye, Yangyang Duan, Hayley W. S. Tsang, He Xu, Yuewen Chen, Han Cao, Yu Chen, Amy K. Y. Fu, Nancy Y. Ip
Summary: Researchers demonstrate a simple and precise method to simultaneously generate iPSC lines with different gene dosages using paired Cas9 nickases. As proof-of-concept they apply this method to examining amyloid precursor protein gene dosage effects in an Alzheimer's disease patient-derived iPSC line. Their method could potentially advance what we know about disease mechanisms and assist with gene therapy development.
COMMUNICATIONS BIOLOGY
(2021)
Review
Cell Biology
Alyssa R. Borges, Fabian Link, Markus Engstler, Nicola G. Jones
Summary: The use of GPI anchors to attach proteins to the cell surface is common in eukaryotes and plays important roles in various functions. In unicellular eukaryotic parasites, GPI-anchored proteins are major virulence factors that support infection and survival within different host environments. This indicates the adaptive value of GPI anchoring throughout eukaryote evolution.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell Biology
Branco M. H. Heuts, Saioa Arza-Apalategi, Sinne G. Alkema, Esther Tijchon, Laura Jussen, Saskia M. Bergevoet, Bert A. van der Reijden, Joost H. A. Martens
Summary: A translocation at 9;11(p22;q23) leads to the formation of MLL-AF9 fusion protein, which is found in 25% of de novo AML cases in children. Using a hiPSC model with doxycycline-dependent MLL-AF9 expression, we investigated the effects of MLL-AF9 on hematopoietic development and its transformation to (pre-)leukemic states. We observed disruptions in early myelomonocytic development and identified gene profiles consistent with primary MLL-AF9 AML.
Article
Microbiology
Sean D. Liston, Luke Whitesell, Mili Kapoor, Karen J. Shaw, Leah E. Cowen
Summary: Invasive fungal infections have high mortality rates and the emergence of drug resistance necessitates the development of new antifungal drugs. Fosmanogepix is a new type of drug that inhibits fungal growth and has synergistic fungicidal effects with calcineurin inhibitors. The use of calcineurin inhibitors as immunosuppressants increases the risk of invasive fungal infections, but their interaction with fosmanogepix can mitigate this risk.
Article
Cell Biology
Yunjie Wang, Zexu Li, Guanheng Yang, Linlin Cai, Fan Yang, Yaqiong Zhang, Yitao Zeng, Qingwen Ma, Fanyi Zeng
Summary: Down's syndrome is a disorder with multiple congenital disabilities, which can be associated with severe cognitive impairment, intellectual disability, and other comorbid conditions. Studies have found a significant number of up-regulated and down-regulated genes in individuals with DS, which are enriched in biological processes such as cell adhesion, cardiac muscle contraction, and immune response. This research provides insights into the potential role of alternative splicing in DS.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Wenhao Wang, Jiansen Lu, Ying Song, Chun Zeng, Yongkui Wang, Cheng Yang, Bin Huang, Yifan Dai, Jian Yang, Liangxue Lai, Liping Wang, Daozhang Cai, Xiaochun Bai
Summary: In this study, GTKO pig cancellous bone showed advantages in repairing femoral condyle bone defects and inhibiting xenotransplant rejection. Compared with WT pig bone, GTKO pig bone had reduced heterologous immunogenicity, tightly integrated with the defect, and showed better osseointegration with an appropriate rate of resorption. Additionally, GTKO pig bone promoted new bone formation.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Cell Biology
Sofia B. Lizarraga, Li Ma, Abbie M. Maguire, Laura van Dyck, Qing Wu, Qing Ouyang, Brian C. Kavanaugh, Dipal Nagda, Liane L. Livi, Matthew F. Pescosolido, Michael Schmidt, Shanique Alabi, Mara H. Cowen, Paul Brito-Vargas, Diane Hoffman-Kim, Ece D. Gamsiz Uzun, Avner Schlessinger, Richard N. Jones, Eric M. Morrow
Summary: Christianson syndrome (CS) is an X-linked neurological disorder caused by mutations in the SLC9A6 gene. By establishing induced pluripotent stem cell (iPSC) lines, researchers found that pathogenic mutations lead to loss of protein function, resulting in reduced neurite growth and arborization in patient-derived neurons. Rescue strategies included gene transfer and exogenous trophic factors like BDNF or IGF-1.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Cell Biology
Hideaki Kojima, Hiroshi Yagi, Hiroko Kushige, Yukiko Toda, Kazuo Takayama, Shinako Masuda, Toshinori Morisaku, Tomonori Tsuchida, Kohei Kuroda, Kazuya Hirukawa, Jumpei Inui, Kotaro Nishi, Yutaka Nakano, Masayuki Tanaka, Shutaro Hori, Yasushi Hasegawa, Yuta Abe, Minoru Kitago, Shungo Adachi, Masatoshi Tomi, Katsuhisa Matsuura, Hiroyuki Mizuguchi, Yuko Kitagawa
Summary: Human induced pluripotent stem cells (hiPSCs) are a promising cell source for studying disease pathology and treatment. In this study, hiPSC-derived cells were successfully seeded onto decellularized organ-derived scaffolds and evaluated in an in vivo-like environment.
Article
Cell & Tissue Engineering
Yongshun Lin, Kaari L. Linask, Barbara Mallon, Kory Johnson, Michael Klein, Jeanette Beers, Wen Xie, Yubin Du, Chengyu Liu, Yinzhi Lai, Jizhong Zou, Mark Haigney, Hushan Yang, Mahendra Rao, Guokai Chen
STEM CELLS TRANSLATIONAL MEDICINE
(2017)
Article
Biotechnology & Applied Microbiology
Colin L. Sweeney, Jizhong Zou, Uimook Choi, Randall K. Merling, Alexander Liu, Aaron Bodansky, Sandra Burkett, Jung-Woong Kim, Suk See De Ravin, Harry L. Malech
Article
Biotechnology & Applied Microbiology
So Gun Hong, Ravi Chandra Yada, Kyujoo Choi, Arnaud Carpentier, T. Jake Liang, Randall K. Merling, Colin L. Sweeney, Harry L. Malech, Moonjung Jung, Marcus A. F. Corat, Aisha A. AlJanahi, Yongshun Lin, Huimin Liu, Ilker Tunc, Xujing Wang, Maryknoll Palisoc, Stefania Pittaluga, Manfred Boehm, Thomas Winkler, Jizhong Zou, Cynthia E. Dunbar
Article
Genetics & Heredity
Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
ORPHANET JOURNAL OF RARE DISEASES
(2017)
Article
Multidisciplinary Sciences
Xuan Yuan, Zhe Li, Andrea C. Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M. Braunstein, Leslie G. Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A. Brodsky
Article
Cell & Tissue Engineering
Lipeng Tian, Lindsey Eldridge, Pooja Chaudhari, Linyi Zhang, Robert A. Anders, Kathleen B. Schwarz, Zhaohui Ye, Yoon-Young Jang
STEM CELL RESEARCH
(2017)
Article
Cell & Tissue Engineering
Senquan Liu, Zhaohui Ye, Yongxing Gao, Chaoxia He, Donna W. Williams, Alison Moliterno, Jerry Spivak, He Huang, Linzhao Cheng
STEM CELL RESEARCH
(2017)
Article
Multidisciplinary Sciences
Kim Han, Shahin Hassanzadeh, Komudi Singh, Sara Menazza, Tiffany T. Nguyen, Mark V. Stevens, An Nguyen, Hong San, Stasia A. Anderson, Yongshun Lin, Jizhong Zou, Elizabeth Murphy, Michael N. Sack
SCIENTIFIC REPORTS
(2017)
Article
Cell & Tissue Engineering
Liuhong Cai, Hao Bai, Vasiliki Mahairaki, Yongxing Gao, Chaoxia He, Yanfei Wen, You-Chuan Jin, You Wang, Rachel L. Pan, Armaan Qasba, Zhaohui Ye, Linzhao Cheng
STEM CELLS TRANSLATIONAL MEDICINE
(2018)
Article
Gastroenterology & Hepatology
Lipeng Tian, Zhaohui Ye, Kim Kafka, Dylan Stewart, Robert Anders, Kathleen B. Schwarz, Yoon-Young Jang
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2019)
Article
Cell & Tissue Engineering
Pooja Chaudhari, Lipeng Tian, Amy Kim, Qingfeng Zhu, Robert Anders, Kathleen B. Schwarz, Saul Sharkis, Zhaohui Ye, Yoon-Young Jang
Review
Medicine, Research & Experimental
Pooja Chaudhari, Lipeng Tian, Zhaohui Ye, Yoon-Young Jang
EXPERIMENTAL BIOLOGY AND MEDICINE
(2019)
Article
Multidisciplinary Sciences
Erica McGrath, Hyunsu Shin, Linyi Zhang, Je-Nie Phue, Wells W. Wu, Rong-Fong Shen, Yoon-Young Jang, Javier Revollo, Zhaohui Ye
NATURE COMMUNICATIONS
(2019)
Article
Biochemistry & Molecular Biology
Colleen McSweeney, Miranda Chen, Fengping Dong, Aswathy Sebastian, Derrick James Reynolds, Jennifer Mott, Zifei Pei, Jizhong Zou, Yongsheng Shi, Yingwei Mao
Summary: RNA-binding motif 8A (RBM8A) is a core component of the exon junction complex (EJC) that regulates various processes in mRNA, including splicing and translation. The researchers generated brain-specific Rbm8a knockout mice to investigate its role in brain development. They found that loss of Rbm8a resulted in altered gene expression and disrupted signaling pathways related to the central nervous system. The study suggests that Rbm8a is important for cellular proliferation, apoptosis, and neuronal subtype differentiation in the brain.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Rossukon Kaewkhaw, Manju Swaroop, Kohei Homma, Jutaro Nakamura, Matthew Brooks, Koray Dogan Kaya, Vijender Chaitankar, Sam Michael, Gregory Tawa, Jizhong Zou, Mahendra Rao, Wei Zheng, Tiziana Cogliati, Anand Swaroop
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2016)