Review
Biochemistry & Molecular Biology
Diana Filipa Silva, Claudia Cavadas
Summary: Primary cilia are specialized organelles that play a role in sensing changes in the extracellular environment and their dysfunction is linked to various age-related disorders. However, the molecular pathways underlying primary cilia dysfunction are not well understood, resulting in limited ciliary-targeted therapies. This review discusses the significance of primary cilia dysfunction in modulating aging processes and the potential of ciliary pharmacological targeting for promoting healthy aging and treating age-related diseases.
TRENDS IN MOLECULAR MEDICINE
(2023)
Article
Medicine, Research & Experimental
Amjad Horani, Deepesh Kumar Gupta, Jian Xu, Huihui Xu, Lis del Carmen Puga-Molina, Celia M. Santi, Sruthi Ramagiri, Steven K. Brennan, Jiehong Pan, Jeffrey R. Koenitzer, Tao Huang, Rachael M. Hyland, Sean P. Gunsten, Shin-Cheng Tzeng, Jennifer M. Strahle, Pleasantine Mill, Moe R. Mahjoub, Susan K. Dutcher, Steven L. Brody
Summary: DNAAF5 gene mutations are associated with primary ciliary dyskinesia (PCD). Using CRISPR-Cas9 technology in mice, researchers recreated human mutations and found that different mutation types have different effects on cilia function, which may contribute to different disease phenotypes and clinical trajectories.
Article
Biochemistry & Molecular Biology
William B. Barrell, Hadeel Adel Al-Lami, Jacqueline A. C. Goos, Sigrid M. A. Swagemakers, Marieke van Dooren, Elena Torban, Peter J. van der Spek, Irene M. J. Mathijssen, Karen J. Liu
Summary: Craniosynostosis is a rare birth defect that can lead to severe complications such as compression of the brain. Studies suggest a variant of the FUZ gene may be associated with craniosynostosis, with loss of FUZ function leading to increased osteoblastic mineralisation. However, the FUZ variant's effects on ciliogenesis are limited.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Multidisciplinary Sciences
Yasaman Barekatain, Jeffrey J. Ackroyd, Victoria C. Yan, Sunada Khadka, Lin Wang, Ko-Chien Chen, Anton H. Poral, Theresa Tran, Dimitra K. Georgiou, Kenisha Arthur, Yu-Hsi Lin, Nikunj Satani, Elliot S. Ballato, Eliot Behr, Ana C. deCarvalho, Roel G. W. Verhaak, John de Groot, Jason T. Huse, John M. Asara, Raghu Kalluri, Florian L. Muller
Summary: The homozygous deletion of MTAP in cancers like glioblastoma leads to elevated MTA levels, which inhibits PRMT5. However, primary glioblastoma tumors with MTAP deletion do not significantly accumulate MTA in vivo, as it is metabolized by MTAP-intact cells in the tumor microenvironment.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Wen-Fu Ho, Ka-Kin Wong, Mei-Hwa Lee, James L. Thomas, Ya-Chun Chang, Shih-Ching Wu, Hsueh-Chuan Hsu, Hung-Yin Lin
Summary: This study investigated the cellular responses of glioblastoma astrocytoma to different titanium alloys and explored the correlation between the physical parameters of the alloys and cellular viability. The relative protein expression in cellular proliferation pathways was also measured and compared with mRNA expression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Hairong Shi, Hongshun Wang, Cheng Zhang, Yajie Lu, Jun Yao, Zhibin Chen, Guangqian Xing, Qinjun Wei, Xin Cao
Summary: This study reveals that OSBPL2 deficiency leads to ciliary defects and abnormal Shh signaling transduction in auditory cells, elucidating the underlying mechanism of OSBPL2 deficiency in hearing loss.
Article
Respiratory System
Li-Qin Lin, Hai-Kang Zeng, Yu-Long Luo, Di-Fei Chen, Xiao-Qian Ma, Huan-Jie Chen, Xin-Yu Song, Hong-Kai Wu, Shi-Yue Li
Summary: The study revealed that mechanical stretch induces apoptosis of airway basal stem cells, inhibits their proliferation, and disrupts cilia cell differentiation, which may affect abnormal regeneration and repair after airway epithelium injury in patients.
RESPIRATORY RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Ying Qiao, Zhengduo Wang, Raimonda Bunikyte, Xi Chen, Shuang Jin, Xufeng Qi, Dongqing Cai, Shanshan Feng
Summary: Hypoxia may elongate primary cilia by downregulating Rabaptin-5 involved in endocytosis. The coordination between endocytosis and ciliogenesis can be utilized by cells to adapt to hypoxia.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Chih-Hao Lu, Sung-Tai Wei, Jia-Jun Liu, Yu-Jen Chang, Yu-Feng Lin, Chin-Sheng Yu, Sunny Li-Yun Chang
Summary: In this study, a 33-gene signature of glioblastoma (GBM) was identified through gene differential analysis, which may have significant implications in the diagnosis, treatment, prognosis prediction, and therapeutic development for GBM.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Holly Y. Chen, Ryan A. Kelley, Tiansen Li, Anand Swaroop
Summary: The primary cilium is a microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues; ciliopathies are a spectrum of clinical entities caused by aberrant ciliogenesis or ciliary transport, leading to overlapping yet highly variable phenotypes; dysfunction and degeneration of light sensing photoreceptors in the retina are highly penetrant in ciliopathies.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Liuliu Yang, Yuling Han, Ting Zhou, Lauretta A. Lacko, Mohsan Saeed, Christina Tan, Ron Danziger, Jiajun Zhu, Zeping Zhao, Clare Cahir, Alice Maria Giani, Yang Li, Xue Dong, Daniel NYSCF Global Stem Cell Arraya Team, Daniel Paull, Zhengming Chen, Aaron Zhong, Scott A. Noggle, Charles M. Rice, Qibin Qi, Todd Evans, Shuibing Chen
Summary: This study utilized a hiPSC array-based GWAS method and identified NDUFA4 as a host factor for ZIKV infection. By infecting trophectoderm cells carrying loss of function mutations in NDUFA4 or risk/non-risk alleles of SNPs (rs917172 and rs12386620) or deletions in the NDUFA4 cis-regulatory region, it was found that loss/reduction of NDUFA4 suppressed ZIKV infection in trophectoderm cells. This study confirmed the usefulness of the hiPSC array-based system for GWAS and confirmed the role of NDUFA4 as a susceptibility locus for ZIKV in disease-relevant trophectoderm cells.
Article
Multidisciplinary Sciences
Dongliang Liu, Dandan Qian, Huaizong Shen, Deshun Gong
Summary: A study reported the structural characteristics of human Meckelin, including a unique protein folding pattern and a stable homodimer structure, providing a basis for further exploration of the function and disease mechanisms of Meckelin.
Article
Medicine, Research & Experimental
Sinead M. McGlacken-Byrne, Ignacio del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann
Summary: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical and psychosocial consequences. Recent research has identified pathogenic variants in the YTHDC2 gene that are linked to early-onset POI, highlighting the importance of this gene in human meiosis regulation.
Article
Biochemistry & Molecular Biology
Jonas Feldheim, Almuth F. Kessler, Julia J. Feldheim, Ellina Schulz, David Wend, Lazaros Lazaridis, Christoph Kleinschnitz, Martin Glas, Ralf-Ingo Ernestus, Sebastian Brandner, Camelia M. Monoranu, Mario Loehr, Carsten Hagemann
Summary: Glioblastoma is a fatal tumor and chemotherapy with temozolomide (TMZ) is a crucial treatment. However, TMZ treatment may lead to changes in MGMT promoter methylation and affect the migration and proliferation behavior of tumor cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Maximilian Kiessler, Ioana Plesca, Ulrich Sommer, Rebekka Wehner, Friederike Wilczkowski, Luise Mueller, Antje Tunger, Xixi Lai, Anke Rentsch, Kenneth Peuker, Sebastian Zeissig, Adrian M. Seifert, Lena Seifert, Juergen Weitz, Michael Bachmann, Martin Bornhaeuser, Daniela Aust, Gustavo Baretton, Marc Schmitz
Summary: The study found that higher densities of tumor-infiltrating pDCs are associated with lower UICC staging, increased progression-free and overall survival in colon cancer patients. A lower number of colon cancer-infiltrating pDCs was independently linked to worse prognosis, while the colocalization of activated pDCs and T cells in tumor stroma and within TLS may contribute to the correlation between higher pDC densities and better prognosis.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2021)
Article
Clinical Neurology
Chu Cheng, Masaki Kobayashi, Jose A. Martinez, Hilarie Ng, Joanna J. Moser, Xiuling Wang, Vandana Singh, Marvin J. Fritzler, Douglas W. Zochodne
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2015)
Article
Cell Biology
Joanna J. Moser, Marvin J. Fritzler, Jerome B. Rattner
Article
Oncology
Young Ou, Yibing Ruan, Min Chen, Joanna J. Moser, Jerome B. Rattner, Frans A. van der Hoorn
EXPERIMENTAL CELL RESEARCH
(2009)
Review
Biochemistry & Molecular Biology
Joanna J. Moser, Marvin J. Fritzler
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
(2010)
Article
Cell Biology
Songqing Li, Shang L. Lian, Joanna J. Moser, Mark L. Fritzler, Marvin J. Fritzler, Minoru Satoh, Edward K. L. Chan
JOURNAL OF CELL SCIENCE
(2008)
Article
Biochemical Research Methods
Joanna J. Moser, Edward K. L. Chan, Marvin J. Fritzler
Review
Anesthesiology
Joanna J. Moser, Pamela M. Veale, Debbie L. McAllister, David P. Archer
PEDIATRIC ANESTHESIA
(2013)
Article
Multidisciplinary Sciences
Joanna J. Moser, Marvin J. Fritzler
Review
Cell Biology
Joanna J. Moser, Marvin J. Fritzler, Young Ou, Jerome B. Rattner
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2010)
Article
Anesthesiology
J. J. Moser, A. M. Walker, A. O. Spencer
BRITISH JOURNAL OF ANAESTHESIA
(2017)
Review
Anesthesiology
David P. Archer, Andrew M. Walker, Sarah K. McCann, Joanna J. Moser, Ramana M. Appireddy
Article
Neurosciences
Joanna J. Moser, Theophany Eystathioy, Edward K. L. Chan, Marvin J. Fritzler
JOURNAL OF NEUROSCIENCE RESEARCH
(2007)
Article
Medicine, General & Internal
Joanna J. Moser, Marvin J. Fritzler, Jerome B. Rattner
BMC CLINICAL PATHOLOGY
(2014)