Article
Biotechnology & Applied Microbiology
Peng Wang, Pengzhen Jin, Linyan Zhu, Min Chen, Yeqing Qian, Wenshan Zeng, Miaomiao Wang, Yuqing Xu, Yanfei Xu, Minyue Dong
Summary: In this study, pathogenic mutations in the B3GALNT2 gene were identified through whole-exome sequencing and Sanger sequencing, which contribute to the understanding of the causes of Walker-Warburg syndrome. Prenatal diagnosis of the disease was achieved using fetal imaging and whole-exome sequencing, expanding the spectrum of pathogenic mutations in this syndrome.
JOURNAL OF GENE MEDICINE
(2022)
Article
Clinical Neurology
G. Talenti, C. Robson, M. S. Severino, C. A. Alves, D. Chitayat, H. Dahmoush, L. Smith, F. Muntoni, S. I. Blaser, F. D'Arco
Summary: This study reported the frequency and characteristics of inner ear dysplasias in three muscular disorders associated with brain malformations and eye abnormalities. Most patients with Walker-Warburg syndrome showed highly characteristic cochlear hypoplasia type 4, while patients with muscle-eye-brain disease and Fukuyama congenital muscular dystrophy more frequently had normal cochlea or milder forms of hypoplasias.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Yuting Shi, Yimei Fu, Zhouteng Tao, Wenjing Yong, Huirong Peng, Wenyang Jian, Gang Chen, Manhui Guo, Yanhua Zhao, Ruojin Yao, Dewei Guo
Summary: In this study, a novel ISPD gene mutation associated with Walker-Warburg syndrome (WWS) was identified using molecular biology techniques such as whole-exome sequencing. The study also revealed that the mutation significantly affects the cellular localization of the ISPD protein. Furthermore, it suggests that whole-exome sequencing could be considered as a diagnostic option for fetuses with congenital hydrocephalus and brain malformations.
Article
Clinical Neurology
Sara Alharbi, Amal Alhashem, Fowzan Alkuraya, Fawaz Kashlan, Kalthoum Tlili-Graiess
Summary: Walker-Warburg syndrome (WWS), the most severe phenotype of congenital muscular dystrophies, is genetically heterogeneous among Saudis. MRI is excellent in demonstrating the spectrum of brain and orbital malformations in WWS patients. However, no definite correlation could be found between MRI findings and genetic variants.
BRAIN & DEVELOPMENT
(2021)
Article
Medicine, General & Internal
Songyi Park, Dong-Yeop Shin, Junseo Steve Park, Hee Sue Park, Soo Young Moon, Sung-Soo Yoon, Dong-Soon Lee
Summary: This study retrospectively investigated the cellular proliferative and apoptotic activity in patients with myelodysplastic syndrome (MDS). The results showed that apoptotic activity gradually increased from healthy controls to MDS patients and was associated with better MDS patient prognostic scores.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Engineering, Biomedical
Li Sun, Yuqing Liu, Nanyan Yang, Xiandong Ye, Zhihong Liu, Jingjing Wu, Minyu Zhou, Wen Zhong, Meiwen Cao, Junhao Zhang, Kibret Mequanint, Malcolm Xing, Wangjun Liao
Summary: Gold nanoparticles (AuNPs) directly target glycolysis and energy supply, inhibiting tumor growth. These findings provide new strategies for designing nano-based medicines and anti-glycolytic therapies.
ACTA BIOMATERIALIA
(2023)
Article
Biochemistry & Molecular Biology
Mohammad Lukman Mansuri, Garima Sharma, Priyanka Parihar, Kirti Tiwari Dube, Tejasweta Sharma, Arti Parihar, Mordhwaj Singh Parihar
Summary: The study found that excessive saturated fatty acids can have detrimental effects on skeletal myoblasts, leading to increased inflammation and oxidative stress, decreased mitochondrial function, and induced apoptosis.
JOURNAL OF BIOCHEMICAL AND MOLECULAR TOXICOLOGY
(2021)
Article
Pharmacology & Pharmacy
Sze-Kwan Lam, Sheng Yan, Joyce Sze-Man Lam, Yuqian Feng, Mahjabin Khan, Caoyang Chen, Frankie Chi-Fat Ko, James Chung-Man Ho
Summary: The combination of dichloroacetate and niclosamide shows a significant inhibitory effect on the growth and migration of malignant pleural mesothelioma cells. This combination therapy also reduces tumor growth in vivo.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Genxi Zhang, Xinchao Zhang, Kaizhi Zhou, Xuanze Ling, Jin Zhang, Pengfei Wu, Tao Zhang, Kaizhou Xie, Guojun Dai
Summary: This study has revealed the regulatory role of miRNA-10a-5p in the proliferation, differentiation, and apoptosis of chicken myoblasts by targeting the BCL6 gene. The findings highlight the significance of miRNA-10a-5p and BCL6 in skeletal muscle growth, development, and autophagy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Pierre Jacquet, Angelique Stephanou
Summary: This review explores the evolving understanding of tumor cell metabolism, particularly glycolytic and oxidative metabolism, tracing its evolution from the pioneering work of Otto Warburg. Misinterpretations of Warburg's work have hindered the understanding of tumor cell metabolism, leading to new concepts like metabolic switch and metabolic reprogramming. The metabolic signature of cancer is complex and cannot be simplified to a single factor, but is expressed at the tissue level through cells' ability to dynamically explore a vast metabolic landscape in heterogeneous environments.
Article
Geosciences, Multidisciplinary
Masahiro Watanabe, Tomoki Iwakiri, Yue Dong, Sarah M. Kang
Summary: Research shows that the Pacific Walker circulation in the tropical Pacific has strengthened over the past decades despite ongoing global warming. Simulation experiments suggest that the strengthening is mainly due to the pattern of sea surface temperature, with about one-third induced by the warming of the Indian Ocean.
GEOPHYSICAL RESEARCH LETTERS
(2023)
Article
Pharmacology & Pharmacy
Andrea Cunha, Ana Catarina Rocha, Flavia Barbosa, Ana Baiao, Patricia Silva, Bruno Sarmento, Odilia Queiros
Summary: This study investigated the effects of antiglycolytic agents on lung cancer cell properties and multidrug resistance phenotype, and found that DCA showed the most promising results in inhibiting cell metabolism and proliferation. DCA also sensitized cancer cells to conventional chemotherapy drugs, suggesting a potential strategy for combined therapy.
Article
Biochemistry & Molecular Biology
Ling Jin, Minkyoung Cho, Bo-Sung Kim, Jung Ho Han, Sungmi Park, In-Kyu Lee, Dongryeol Ryu, Jae Ho Kim, Sung-Jin Bae, Ki-Tae Ha
Summary: The study revealed that A549 cells with PDHA1(WT) and PDHA1(3SD) can be used as a cell-based system to distinguish PDK inhibitors. Some inhibitors induced apoptosis dependent on PDH activity, while others enhanced PDHA1 activity with low toxicity to cancer cells. The complexity of PDHA1 regulation was also highlighted, requiring further investigation.
Article
Biochemistry & Molecular Biology
Luis Felipe Santos-Cruz, Santiago Cristobal Sigrist-Flores, Laura Castaneda-Partida, Maria Eugenia Heres-Pulido, Irma Elena Duenas-Garcia, Elias Piedra-Ibarra, Alberto Ponciano-Gomez, Rafael Jimenez-Flores, Myriam Campos-Aguilar
Summary: One of the biggest global health problems is the rise of chronic noncommunicable diseases due to the consumption of high-calorie diets. This study used Drosophila melanogaster to explore the metabolic effects of consuming fructose and palmitic acid in specific tissues such as the brain and intestine. The findings suggest that this diet can affect protein biosynthesis at the mRNA level and alter enzymes related to amino acid synthesis, as well as the dopaminergic and GABAergic systems, potentially explaining the development of neural diseases in humans.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pathology
Silvia Zago, Evelina Silvestri, Tiziana Arcangeli, Marina Calisesi, Chiara Romeo, Giulia Parmeggiani, Elena Parrini, Valentina Cetica, Renzo Guerrini, Andrea Palicelli, Maria Paola Bonasoni
Summary: This study reports a case of a fetus with WWS in which prenatal diagnosis helped to identify severe fetal brain abnormalities, leading to therapeutic pregnancy termination.
FETAL AND PEDIATRIC PATHOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Hiroyuki Shinchi, Tomoya Nakamura, Hayato Ota, Shoko Nishihara, Masahiro Wakao, Yasuo Suda
Review
Biochemistry & Molecular Biology
Taichi Miura, Shoko Nishihara
TRENDS IN GLYCOSCIENCE AND GLYCOTECHNOLOGY
(2019)
Article
Clinical Neurology
Jun Sung Lee, Kazuaki Kanai, Mari Suzuki, Woojin S. Kim, Han Soo Yoo, YuHong Fu, Dong-Kyu Kim, Byung Chul Jung, Minsun Choi, Kyu Won Oh, Yuanzhe Li, Mitsuyoshi Nakatani, Tomoko Nakazato, Satoko Sekimoto, Manabu Funayama, Hiroyo Yoshino, Shin-ichiro Kubo, Kenya Nishioka, Ryusuke Sakai, Morio Ueyama, Hideki Mochizuki, He-Jin Lee, Sergio Pablo Sardi, Glenda M. Halliday, Yoshitaka Nagai, Phil Hyu Lee, Nobutaka Hattori, Seung-Jae Lee
Article
Multidisciplinary Sciences
Ryusuke Sakai, Mari Suzuki, Morio Ueyama, Toshihide Takeuchi, Eiko N. Minakawa, Hideki Hayakawa, Kousuke Baba, Hideki Mochizuki, Yoshitaka Nagai
Article
Biochemistry & Molecular Biology
Taichi Miura, Noriyuki Yuasa, Hayato Ota, Masato Habu, Mitsuko Kawano, Fumiaki Nakayama, Shoko Nishihara
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2019)
Review
Biochemistry & Molecular Biology
Shoko Nishihara
GLYCOCONJUGATE JOURNAL
(2020)
Article
Immunology
Yuto Kikutani, Masatoshi Okamatsu, Shoko Nishihara, Sayaka Takase-Yoden, Takahiro Hiono, Robert P. de Vries, Ryan McBride, Keita Matsuno, Hiroshi Kida, Yoshihiro Sakoda
MICROBIOLOGY AND IMMUNOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Chika Ogura, Kazumi Hirano, Shuji Mizumoto, Shuhei Yamada, Shoko Nishihara
Summary: Dermatan sulphate (DS) promotes neuronal differentiation in both mouse and human stem cells, offering a novel method for efficiently inducing neuronal differentiation.
JOURNAL OF BIOCHEMISTRY
(2021)
Article
Cell Biology
Federico Pecori, Yoshihiro Akimoto, Hisatoshi Hanamatsu, Jun-ichi Furukawa, Yasuro Shinohara, Yuzuru Ikehara, Shoko Nishihara
JOURNAL OF CELL SCIENCE
(2020)
Article
Multidisciplinary Sciences
Tomonori Shibata, Konami Nagano, Morio Ueyama, Kensuke Ninomiya, Tetsuro Hirose, Yoshitaka Nagai, Kinya Ishikawa, Gota Kawai, Kazuhiko Nakatani
Summary: The study identifies naphthyridine carbamate dimer (NCD) as a compound that targets disease-causing r(UGGAA)(n) repeat RNAs in spinocerebellar ataxia type 31. NCD disrupts naturally occurring RNA foci built on repeat RNA and suppresses splicing events by interfering with RNA-protein interactions.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Federico Pecori, Ikuko Yokota, Hisatoshi Hanamatsu, Taichi Miura, Chika Ogura, Hayato Ota, Jun-ichi Furukawa, Shinya Oki, Kazuo Yamamoto, Osamu Yoshie, Shoko Nishihara
Summary: Researchers conducted a comprehensive and comparative analysis of the total glycomes of mouse ESCs and EpiLCs, revealing dramatic changes in overall glycosylation from early stages of development. They also identified a developmentally regulated network orchestrating glycosylation changes and pinpointed PRC2 as a key component involved in this process. These findings provide new insights into the transition from naive to primed pluripotency and contribute to the understanding of glycosylation complex regulation during early mouse embryonic development.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Federico Pecori, Nanako Kondo, Chika Ogura, Taichi Miura, Masahiko Kume, Youhei Minamijima, Kazuo Yamamoto, Shoko Nishihara
Summary: The O-GlcNAcylation of Psme3 protein at serine 111 is identified as a crucial node in the network regulating ESC pluripotency, playing a key role in maintaining pluripotent state by controlling P-body homeostasis.
Article
Cell Biology
Chika Ogura, Shoko Nishihara
Summary: This study demonstrated the important role of DS in maintaining the undifferentiated state of mESCs and influencing their differentiation direction and Wnt signaling pathway. Knockdown or overexpression experiments targeting the D4ST1 gene revealed the mechanism of DS in mESCs.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Virology
Tomomi Ichimiya, Masatoshi Okamatsu, Takaaki Kinoshita, Daiki Kobayashi, Osamu Ichii, Naoki Yamamoto, Yoshihiro Sakoda, Hiroshi Kida, Hiroto Kawashima, Kazuo Yamamoto, Sayaka Takase-Yoden, Shoko Nishihara
Summary: The study revealed that human H1N1 viruses passaged in chicken embryos show enhanced binding to sulfated glycans, leading to increased production levels. This is attributed to the presence of 6-sulfo sialyl Lewis X and/or NeuAc alpha 2-3Gal beta 1-4(SO3-6)GlcNAc in the viruses, suggesting their involvement in efficient propagation in chicken embryos.
Review
Anatomy & Morphology
Kazuyoshi Itoh, Shoko Nishihara
Summary: Mucin-type O-glycosylation, a prominent type of glycosylation, is evolutionarily conserved and plays crucial physiological roles in animals. Studies in Drosophila have shown that these glycans are essential for CNS development, NMJ morphogenesis, and synaptic functions, providing insight into their functions in the mammalian brain.
FRONTIERS IN NEUROANATOMY
(2021)