Article
Biochemistry & Molecular Biology
Benjamin E. Hinz, Sydney G. Walker, Austin Xiong, Rose A. Gogal, Michael J. Schnieders, Lori L. Wallrath
Summary: Mutations in the LMNA gene cause laminopathies, with different amino acid substitutions leading to distinct diseases in Lamin A/C. The nature of the amino acid replacement may dictate disease severity and pathogenicity. In silico analyses suggest potential genotype-phenotype connections in laminopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Gulsum Kayman Kurekci, Aybar C. Acar, Pervin R. Dincer
Summary: LAP1B plays a critical role in striated muscle, and its specific loss causes muscular dystrophy. Research reveals that LAP1B deficiency results in delayed myogenic differentiation and transcriptional reprogramming, accompanied by nuclear deformations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Yuexia Wang, Khurts Shilagardi, Trunee Hsu, Kamsi O. Odinammadu, Takamitsu Maruyama, Wei Wu, Chyuan-Sheng Lin, Christopher B. Damoci, Eric D. Spear, Ji-Yeon Shin, Wei Hsu, Susan Michaelis, Howard J. Worman
Summary: Prelamin A, a farnesylated precursor of lamin A, can cause progeria syndrome when accumulated as progerin. Mutations in ZMPSTE24, the processing enzyme of prelamin A, can lead to progeroid disorders. This study generated a mouse model with permanently farnesylated prelamin A and found that these mice have extended lifespan and exhibit skeletal and nuclear defects during physiological aging.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemical Research Methods
Li-Chun Cheng, Xi Zhang, Kanishk Abhinav, Julie A. Nguyen, Sabyasachi Baboo, Salvador Martinez-Bartolome, Tess C. Branon, Alice Y. Ting, Esther Loose, John R. Yates, Larry Gerace
Summary: By using engineered biotin ligase TurboID and quantitative proteomics, this study explored the neighborhoods of Emerin and LBR in cultured mouse embryonic fibroblasts. The analysis revealed 232 high confidence proximity partners interacting selectively with Emerin and/or LBR, with 49 shared by both.
JOURNAL OF PROTEOME RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Alan Rawls, Bridget K. Diviak, Cameron I. Smith, Grant W. Severson, Sofia A. Acosta, Jeanne Wilson-Rawls
Summary: Muscular dystrophies are genetic muscle-wasting disorders characterized by chronic inflammation and fibrotic scarring in muscle tissue. Duchenne muscular dystrophy, the most common form, is typically treated with anti-inflammatory glucocorticoids; however, their long-term use is limited by adverse side effects. Developing new pharmacotherapeutic approaches to reduce muscle damage and promote repair is crucial.
Review
Cell Biology
Hyeong Jae Kim, Peter C. W. Lee, Jeong Hee Hong
Summary: With the discovery of the role of the nuclear envelope protein lamin in human genetic diseases, further diverse roles of lamins have been elucidated. The roles of lamins have been addressed in cellular homeostasis including gene regulation, cell cycle, cellular senescence, adipogenesis, bone remodeling as well as modulation of cancer biology. The modulatory roles of lamin-A/C in stem cell differentiation, skin, cardiac regulation, and oncology have also been elucidated.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Pathology
Ji-Yeon Shin, Howard J. Worman
Summary: Nuclear envelope is composed of various components and mutations in genes encoding these components can lead to laminopathies, a group of diseases that selectively affect different tissues or organs. The mechanisms underlying these diseases are still unclear and current hypotheses focus on the impact of nuclear envelope alterations on gene expression and cellular mechanics.
ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE
(2022)
Article
Genetics & Heredity
Ellen F. Gregory, Shilpi Kalra, Trisha Brock, Gisele Bonne, G. W. Gant Luxton, Christopher Hopkins, Daniel A. Starr
Summary: This study created Caenorhabditis elegans models to study striated muscle laminopathies caused by LMNA gene mutations. Severe missense variants reduced fertility and motility in worms, and nuclear morphology defects were observed. The study provided insights into lamin mechanisms during normal development of laminopathies.
Article
Chemistry, Multidisciplinary
Yongpeng Zeng, Priya Dharshana Ramani, Weibo Gao, Wenting Zhao
Summary: Neuroblastoma is a highly heterogeneous childhood cancer, and accurate risk stratification is crucial for treatment planning. A new nanopillar-guided subnuclear morphology evaluation method identifies subpopulations with differential motilities, linking nuclear irregularities to cancer metastasis risk and prognosis. This method also reveals individual cell responses to anti-cancer drug treatments, enhancing our understanding of neuroblastoma heterogeneity and potential therapeutic strategies.
Article
Cell Biology
Giulia Bastianello, Marco Foiani
Summary: The mechanical properties of the nucleus play a crucial role in cellular and nuclear functions, as well as human diseases. The nucleus acts as a protective barrier for genetic information and a mechano-sensory hub in response to internal and external forces. Cells have developed mechano-transduction signaling pathways to maintain nuclear shape stability and prevent morphological abnormalities. The mechanobiology of the nucleus is emerging as a potential diagnostic tool and clinical target.
CURRENT OPINION IN CELL BIOLOGY
(2023)
Article
Plant Sciences
Joseph F. McKenna, Hardeep K. Gumber, Zachary M. Turpin, Alexis M. Jalovec, Andre C. Kartick, Katja Graumann, Hank W. Bass
Summary: The study demonstrates that nucleoskeletal proteins NCH1, NCH2, and MKAKU41 in maize have characteristic properties of LINC-associated plant nucleoskeletal proteins, impacting the nuclear periphery structure and overall nuclear architecture.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Diana Viegas, Catia D. Pereira, Filipa Martins, Tiago Mateus, Odete A. B. da Cruz e Silva, Maria Teresa Herdeiro, Sandra Rebelo
Summary: DM1 is a hereditary and multisystemic disease characterized by altered nuclear profile and protein levels in patient-derived cells, indicating the relevance of nuclear envelope dysfunction in the pathogenesis of the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Eric C. Schirmer, Leena Latonen, Sylvain Tollis
Summary: Research suggests that changes in nuclear size are associated with tumor metastasis. Recent studies have found that reversing tumor type-dependent nuclear size changes is correlated with reduced cell migration and invasion.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Shanelle De Silva, Zhijuan Fan, Baoqiang Kang, Catherine M. Shanahan, Qiuping Zhang
Summary: Nesprins are multi-isomeric scaffolding proteins that play important roles in linking the nucleus to the cytoskeleton. Pathogenic mutations in nesprin-1 and-2 are associated with tissue-specific disorders, including dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. Recent evidence suggests that a small muscle-specific isoform of nesprin-1, called nesprin-1 alpha 2, may contribute to the muscle-specificity of these diseases. This review summarizes our current understanding of the muscle-specific functions of nesprin-1 and its isoforms, with the goal of providing insights into the potential pathological mechanisms and therapeutic targets of nesprin-related muscle diseases.
BIOCHEMICAL SOCIETY TRANSACTIONS
(2023)
Article
Cell Biology
Rhiannon M. Sears, Kyle J. Roux
Summary: Mutations in LMNA and BANF1 genes can cause progeria, leading to accelerated aging. The proteins produced by these genes are involved in nuclear envelope rupture and repair processes. A-type lamins are recruited to the rupture sites in a BAF-dependent manner. Progeria-associated mutations inhibit the recruitment of A-type lamins to nuclear ruptures.
Article
Neurosciences
Vikram G. Shakkottai, Amit Batla, Kailash Bhatia, William T. Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S. Raike, Yoland Smith, H. A. Jinnah, Ellen J. Hess, Sabine Meunier, Mark Hallett, Rachel Fremont, Kamran Khodakhah, Mark S. LeDoux, Traian Popa, Cecile Gallea, Stephane Lehericy, Andreea C. Bostan, Peter L. Strick
Article
Biochemistry & Molecular Biology
Ji-Yeon Shin, Ivan Mendez-Lopez, Mingi Hong, Yuexia Wang, Kurenai Tanji, Wei Wu, Leana Shugol, Robert S. Krauss, William T. Dauer, Howard J. Worman
HUMAN MOLECULAR GENETICS
(2017)
Article
Biochemistry & Molecular Biology
Samuel S. Pappas, Chun-Chi Liang, Sumin Kim, CheyAnne O. Rivera, William T. Dauer
HUMAN MOLECULAR GENETICS
(2018)
Article
Cell Biology
Cosmo A. Saunders, Nathan J. Harris, Patrick T. Willey, Brian M. Woolums, Yuexia Wang, Alex J. McQuown, Amy Schoenhofen, Howard J. Worman, William T. Dauer, Gregg G. Gundersen, G. W. Gant Luxton
JOURNAL OF CELL BIOLOGY
(2017)
Article
Neurosciences
Jesse C. DeSimone, Samuel S. Pappas, Marcelo Febo, Roxana G. Burciu, Priyank Shukla, Luis M. Colon-Perez, William T. Dauer, David E. Vaillancourt
NEUROBIOLOGY OF DISEASE
(2017)
Article
Multidisciplinary Sciences
Chao Gao, Hanbo Sun, Tuo Wang, Ming Tang, Nicolaas I. Bohnen, Martijn L. T. M. Muller, Talia Herman, Nir Giladi, Alexandr Kalinin, Cathie Spino, William Dauer, Jeffrey M. Hausdorff, Ivo D. Dinov
SCIENTIFIC REPORTS
(2018)
Article
Multidisciplinary Sciences
Nasia Antoniou, Dimitrios Vlachakis, Anna Memou, Emmanouela Leandrou, Polytimi-Eleni Valkimadi, Katerina Melachroinou, Diane B. Re, Serge Przedborski, William T. Dauer, Leonidas Stefanis, Hardy J. Rideout
SCIENTIFIC REPORTS
(2018)
Article
Biology
Samuel S. Pappas, Jay Li, Tessa M. LeWitt, Jeong-Ki Kim, Umrao R. Monani, William T. Dauer
Article
Medicine, Research & Experimental
Ji-Yeon Shin, Antonio Hernandez-Ono, Tatyana Fedotova, Cecilia Ostlund, Michael J. Lee, Sarah B. Gibeley, Chun-Chi Liang, William T. Dauer, Henry N. Ginsberg, Howard J. Worman
JOURNAL OF CLINICAL INVESTIGATION
(2019)
Article
Biology
Jay Li, Chun-Chi Liang, Samuel S. Pappas, William T. Dauer
Article
Medicine, Research & Experimental
Jay Li, Daniel S. Levin, Audrey J. Kim, Samuel S. Pappas, William T. Dauer
Summary: Research in a mouse model of DYT1 dystonia showed a critical requirement for torsinA in normal motor function and gene therapy, with a particular emphasis on its essential role during a developmental critical period. These findings suggest that torsinA-based therapeutic strategies need to be employed early in the course of DYT1 dystonia for effectiveness.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Multidisciplinary Sciences
Dhananjay Yellajoshyula, Samuel S. Pappas, Abigail E. Rogers, Biswa Choudhury, Xylena Reed, Jinhui Ding, Mark R. Cookson, Vikram G. Shakkottai, Roman J. Giger, William T. Dauer
Summary: THAP1 regulates myelination initiation by modulating GAG catabolism and ECM composition, with a lack of THAP1 leading to excess GAG accumulation and inhibition of OL maturation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Clinical Neurology
Dhananjay Yellajoshyula, Samuel S. Pappas, William T. Dauer
Summary: The development of genomics and neuroimaging techniques has shed light on the importance of neuronal-glial interactions and extracellular matrix in nervous system development, function, and plasticity. Abnormalities in neuronal-glial interactions play a key role in neurodevelopmental disorders.
MOVEMENT DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Cecilia Ostlund, Antonio Hernandez-Ono, Samantha J. Turk, William T. Dauer, Henry N. Ginsberg, Howard J. Worman, Ji-Yeon Shin
Summary: In this study, the occurrence of nuclear lipid droplets (LDs) in primary hepatocytes from mice following depletion of lamina-associated polypeptide 1 (LAP1) was investigated. The results revealed that LAP1-depleted hepatocytes contain frequent nuclear LDs, which differ from cytoplasmic LDs in their associated proteins. The study also demonstrated a relationship of LD formation with nutritional state.
JOURNAL OF LIPID RESEARCH
(2022)
Article
Cell Biology
Dhananjay Yellajoshyula, Chun-Chi Liang, Samuel S. Pappas, Silvia Penati, Angela Yang, Rodan Mecano, Ravindran Kumaran, Stephanie Jou, Mark R. Cookson, William T. Dauer
DEVELOPMENTAL CELL
(2017)
Review
Cell Biology
Alyssa Kearly, Andrew D. L. Nelson, Aleksandra Skirycz, Monika Chodasiewicz
Summary: Stress Granules (SGs) and Processing-bodies (P-bodies) are important biomolecular condensates that play crucial roles in maintaining mRNA balance and regulating stress responses. They are composed of proteins and RNAs involved in translation, protein folding, and energy metabolism.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
P. Lemonnier, T. Lawson
Summary: Stomatal conductance plays a crucial role in determining CO2 uptake and water loss in plants, affecting overall water status and productivity. However, the signals coordinating mesophyll demands for CO2, the role of chloroplasts in stomatal function, and other GC metabolic processes in stomatal function remain poorly understood.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Matteo Gionfriddo, Timothy Rhodes, Spencer M. Whitney
Summary: Rubisco is a key enzyme that facilitates the entry of CO2 into the biosphere, but its catalytic properties are slow and error-prone. More effective Rubisco variants have been discovered in certain algae, offering the potential to significantly improve crop productivity. However, incompatibilities in protein folding have hindered the transplantation of these variants into plants. Directed evolution is now being explored to enhance Rubisco catalysis.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Vittoria Clapero, Stephanie Arrivault, Mark Stitt
Summary: The Calvin-Benson cycle has undergone massive selection and co-evolution with carbon-concentrating mechanisms due to changing environmental factors. Metabolite profiling reveals species-specific variations in the operation of the cycle, indicating the influence of different modes of photosynthesis. Connectivity analysis identifies constraints and driving factors for cross-species diversity in the cycle.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Sukhbir Kaur, David D. Roberts
Summary: Thrombospondin-1 modulates cell behavior by interacting with components of the extracellular matrix and cell surface receptors. Its release and expression are influenced by injuries and various diseases, while its sustained presence in the extracellular space is regulated by receptor-mediated clearance. Thrombospondin-1 plays important roles in immune responses.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Richard P. Tucker, Josephine C. Adams
Summary: Thrombospondins (TSPs) play diverse roles in animals and have been found to belong to a superfamily that includes different subgroups such as mega-TSPs, sushi-TSPs, and poriferan-TSPs. Invertebrates encode a greater diversity of TSP superfamily members than vertebrates.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
James Petrik, Sylvia Lauks, Bianca Garlisi, Jack Lawler
Summary: Many cancers start with a small nest of transformed cells that can remain dormant. Thrombospondin-1 (TSP-1) initially promotes dormancy by suppressing angiogenesis, but over time, factors promoting angiogenesis become dominant and recruit various cells to form a complex tumor microenvironment. TSPs play a role in the proliferation, migration, and invasion of cells in the tumor microenvironment, as well as influencing the immune characteristics and phenotype of tumor-associated macrophages.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Hana Fakim, Christine Vande Velde
Summary: There has been increasing attention to the role of phase-separated biomolecular condensates, specifically stress granules, in neurodegenerative diseases like ALS. ALS-associated mutations in genes involved in stress granule assembly have been found, and stress granule proteins have been detected in pathological inclusions in ALS patient neurons. However, protein components of stress granules are also present in other physiological biomolecular condensates, which have not been adequately discussed in relation to ALS. This review explores the functions of TDP-43 and FUS in physiological condensates occurring in the nucleus and neurites beyond stress granules, and discusses the impact of ALS-linked mutations on their ability to phase separate and perform their functions in stress-independent biomolecular condensates.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Alexander Lin, Yogambha Ramaswamy, Ashish Misra
Summary: Smooth muscle cells, endothelial cells, and macrophages in blood vessels display remarkable heterogeneity, and their developmental origins may influence their plasticity. Unbiased single cell whole transcriptome analysis techniques are revolutionizing the understanding of cellular diversity and plasticity, providing insights for therapeutic research.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Elton P. Hudson
Summary: The Calvin Benson cycle plays a crucial role in the ecological and biotechnological aspects of bacteria. Recent studies have shed light on the regulation of this cycle in bacteria, with post-transcriptional and post-translational regulation being important in phototrophic bacteria, and transcriptional regulation being prominent in chemolithoautotrophic bacteria. Understanding the regulation of the Calvin Benson cycle has implications for enhancing CO2 fixation and improving the synthesis of desired products. Non-canonical cycles may offer potential benefits for industrial applications.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Xin-Guang Zhu, Haim Treves, Honglong Zhao
Summary: This paper discusses the major regulatory mechanisms over the Calvin Benson Cycle (CBC) that maintain homeostasis of metabolite levels. These mechanisms include redox regulation of enzymes, metabolite regulations (especially allosteric regulations), and balanced activities of enzymes. These regulatory mechanisms are crucial for maintaining high flux and photosynthetic efficiency in CBC.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Hunter C. Herriage, Yi-Ting Huang, Brian R. Calvi
Summary: Apoptosis prevents the inappropriate acquisition of extra copies of the genome, known as polyploidy, but the polyploid state can suppress apoptosis. The mechanisms linking apoptosis and polyploid cell cycles are still largely unknown, and studying the regulation of apoptosis in development and cancer could lead to more effective therapies.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Daniel Campbell, Steven Zuryn
Summary: Mitochondrial dynamics play a crucial role in regulating cellular and organismal homeostasis, impacting various aspects of an organism's healthspan. By studying the nematode Caenorhabditis elegans, a comprehensive understanding of the impact of mitochondrial dynamics on homeostasis over a lifetime can be obtained.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Diba Borgmann, Henning Fenselau
Summary: Maintaining blood glucose at an appropriate physiological level requires coordination of multiple organs and tissues, with the vagus nerve playing a key role in central control. Recent studies have revealed the cellular identity, neuroanatomical organization, and functional contributions of vagal neurons in the regulation of systemic glucose metabolism. These findings provide new insights into the precise roles of vagal neurons in coordinating glucose levels and offer potential avenues for treating glucose metabolism disorders.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Review
Cell Biology
Tatiana C. Coverdell, Stephen B. G. Abbott, John N. Campbell
Summary: In this article, we review how genetic technology and single-cell genomics are revealing the organizational principles of the efferent vagus in unprecedented detail.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)