Article
Cell Biology
Claire Y. Allan, Paul R. Fisher
Summary: The study reveals the contribution of mucolipin in chemotactic calcium signaling and suggests that Dictyostelium is a useful model for studying the molecular mechanisms of cytopathogenesis in Mucolipidosis type IV.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Medicine, Research & Experimental
Anna Scotto Rosato, Einar K. Krogsaeter, Dawid Jaslan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Boeck, Amanda Wyatt, Daniela Wuenkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber-Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl-Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L. Medina, Dominik Paquet, Christian Grimm
Summary: This study found that TPC2 activation can improve cellular phenotypes associated with LSDs, including cholesterol or lipofuscin accumulation and abnormal vacuole formation. Validation in patient cells and mouse models suggests that TPC2 is a promising target for the treatment of different types of LSDs.
EMBO MOLECULAR MEDICINE
(2022)
Review
Genetics & Heredity
Emma J. Dogterom, Margreet A. E. M. Wagenmakers, Martina Wilke, Serwet Demirdas, Nicole M. Muschol, Sandra Pohl, Jan C. van der Meijden, Dimitris Rizopoulos, Jan C. van der Meijden, Esmee Oussoren
Summary: This study reviewed all published cases of MLII and MLIII between 1968 and August 2019, involving 843 patients. The results showed a clear genotype-phenotype correlation, with the most frequent pathogenic variant in MLII and MLIII alpha/beta being c.3503_3504del for GNPTAB and c.22A>G for MLIII gamma resulting from pathogenic GNPTG variants. The study provides important insights into the natural history of MLII and MLIII.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Ayelet Vardi, Amir Pri-Or, Noa Wigoda, Yulia Grishchuk, Anthony H. Futerman
Summary: MLIV is an ultra-rare neurodevelopmental and neurodegenerative disorder caused by mutations in the MCOLN1 gene. Proteomics analysis of the post-mortem brain sample from an MLIV patient identified alterations in pathways related to lysosome, lipid metabolism, myelination, and autophagy, among others. The study also suggests potential biomarkers such as calbindin 1 and calbindin 2 for monitoring disease progression.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Plant Sciences
Howard J. Teresinski, Bryan Hau, Kyle Symonds, Ryan Kilburn, Kim A. Munro, Nathan M. Doner, Robert Mullen, Vivian H. Li, Wayne A. Snedden
Summary: CML proteins in plants regulate protein targets through interactions with multiple protein families, with the strongest interaction observed with IQD proteins. CML13 and CML14 showed high affinity binding to IQD14, which was regulated by Ca2+, and were localized to both the cytosol and nucleus in plant cells, with partial relocalization to microtubules in the presence of IQD14.
PLANT CELL AND ENVIRONMENT
(2023)
Article
Biochemistry & Molecular Biology
Takamasa Kudo, Keara Lane, Markus W. Covert
Summary: By integrating live-cell imaging with pooled library-based screening, we developed a method that enables intracellular multiplexing and allows for long-term observation and analysis of phenotypes of interest, directly connecting behavior to the cellular genotype.
Article
Biochemical Research Methods
Xiaoli Tao, Baili Zheng, Xiaogang Liu, Tiezhong Zhou, Bing Li
Summary: This study identified host proteins that interact with PPMV-1 M protein and found that these proteins are closely associated with protein synthesis, metabolism, and cell signalling pathway transduction. The study also revealed the interaction between PPMV-1 M protein and NEK7 protein in host cells. These findings provide important insights into the replication process and pathogenic mechanism of PPMV-1.
PROTEIN EXPRESSION AND PURIFICATION
(2022)
Article
Neurosciences
Madison Sangster, Sanjid Shahriar, Zachary Niziolek, Maria Carla Carisi, Michael Lewandowski, Bogdan Budnik, Yulia Grishchuk
Summary: Mucolipidosis IV (MLIV) is an ultra-rare lysosomal disorder mainly affecting the central nervous system. The disease is characterized by cognitive and motor developmental delay, neurological function decline, blindness, and premature death. There are currently no approved therapies, and the pathogenic mechanisms are still unknown. Through cell type specific proteomics analysis in a mouse model, new insights into the intracellular mechanisms of MLIV are obtained, which can contribute to biomarker discovery and translational research for this disease.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Courtney K. Ellison, Chenyi Fei, Triana N. Dalia, Ned S. Wingreen, Ankur B. Dalia, Joshua W. Shaevitz, Zemer Gitai
Summary: This study reveals how subcellular localization of T4P appendages regulates multicellular development in bacterial communities, independently of T4P dynamics.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Kevin Mace, Abhinav K. Vadakkepat, Adam Redzej, Natalya Lukoyanova, Clasien Oomen, Nathalie Braun, Marta Ukleja, Fang Lu, Tiago R. D. Costa, Elena Orlova, David Baker, Qian Cong, Gabriel Waksman
Summary: Bacterial conjugation is a crucial process for the transfer of DNA, especially antibiotic resistance genes. The high-resolution cryo-EM structure of the T4SS complex provides insights into the assembly mechanism and protein-protein interaction network involved in conjugative pilus biogenesis.
Article
Genetics & Heredity
Badriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, Sana Al Zuhabi, Anuradha Ganesh, Zainab Al Hashami, Zeyana Al Dhamhmani, Razan Zadjali, Nafila B. Al Riyami, Fahad Zadjali
Summary: This study describes six MLIV patients from two Omani families with a novel c.237+5G>A mutation in the MCOLN1 gene. This mutation, which is predicted to affect mRNA splicing, was not found in the general population. The study emphasizes the importance of considering MLIV in pediatric patients with cerebral palsy-like symptoms.
Article
Dermatology
Hanna Niehues, Gijs Rikken, Ferry F. J. Kersten, Jorine M. Eeftens, Ivonne M. J. J. Van Vlijmen-Willems, Diana Rodijk-Olthuis, Patrick A. M. Jansen, Wiljan J. A. J. Hendriks, Thomas H. A. Ederveen, Joost Schalkwijk, Ellen H. Van den Bogaard, Patrick L. J. M. Zeeuwen
Summary: Late cornified envelope (LCE) proteins are small cationic epidermal proteins with antimicrobial properties. We identified CYSRT1 as an interacting partner of LCE proteins, which is specifically expressed in cutaneous and oral epithelia and colocalizes with LCE proteins in the upper layers of the suprabasal epidermis. CYSRT1 has antimicrobial activity against Pseudomonas aeruginosa and contributes to the constitutive epidermal antimicrobial host defense repertoire.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Cecelia M. Harold
Summary: Ribosome biogenesis is a complex and essential process that leads to cellular protein synthesis. Recent advances in technology have facilitated the identification of novel regulators of ribosome biogenesis and the discovery of therapeutics for cancer. Screens have revealed new proteins involved in human ribosome biogenesis and their connections with earlier steps in the process. This review discusses the current state of screens for human ribosome biogenesis factors and explores the potential of other technologies to discover additional factors and answer outstanding questions in the field.
BIOSCIENCE REPORTS
(2023)
Article
Chemistry, Multidisciplinary
Arun Kumar Somavarapu, Giulia Kleijwegt, Madhu Nagaraj, Parvez Alam, Janni Nielsen, Daniel E. Otzen
Summary: Small soluble oligomers of the protein alpha-synuclein (alpha SO) have been identified as contributing factors to Parkinson's Disease (PD) through disruptions in neuronal homeostasis. However, the development of effective therapeutics against alpha SO is challenging due to its low abundance and complex structure. This study employed two different approaches to neutralize the toxic interactions of alpha SO, identifying potential interaction candidates and screening disruptors of these interactions using vesicles consisting of anionic lipids. The results showed promise in impairing alpha SO contacts with other proteins and suppressing alpha-synuclein amyloid formation.
Article
Biology
Kouhei Tachibana, Aoi Fukazawa, Ryo Nishide, Takenao Ohkawa
Summary: This study explores the importance of structural similarity in protein pockets for discovering new ligands and proposes a method to search for proteins with similar pockets and extract significant spots in binding ligands. The effectiveness of the method is confirmed by classifying ligands based on the extracted significant spots in the ligand binding to the protein.
COMPUTATIONAL BIOLOGY AND CHEMISTRY
(2021)
Article
Orthopedics
Cameron Upchurch, Clinton D. Morgan, Allison Umfress, George Yang, Mark F. Riederer
CLINICAL JOURNAL OF SPORT MEDICINE
(2015)
Article
Cell Biology
Austin Miller, Jessica Schafer, Cameron Upchurch, Ellen Spooner, Julie Huynh, Sebastian Hernandez, Brooke McLaughlin, Liam Oden, Hanna Fares
Article
Physiology
Ciara M. Shaver, Cameron P. Upchurch, David R. Janz, Brandon S. Grove, Nathan D. Putz, Nancy E. Wickersham, Sergey I. Dikalov, Lorraine B. Ware, Julie A. Bastarache
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
(2016)
Article
Genetics & Heredity
Kevin Gee, Danniel Zamora, Teresa Horm, Laeth George, Cameron Upchurch, Justin Randall, Colby Weaver, Caitlin Sanford, Austin Miller, Sebastian Hernandez, Hope Dang, Hanna Fares
G3-GENES GENOMES GENETICS
(2017)
Article
Critical Care Medicine
Cameron P. Upchurch, Carlos G. Grijalva, Richard G. Wunderink, Derek J. Williams, Grant W. Waterer, Evan J. Anderson, Yuwei Zhu, Eric M. Hart, Frank Carroll, Anna M. Bramley, Seema Jain, Kathryn M. Edwards, Wesley H. Self
Letter
Critical Care Medicine
Wesley H. Self, Cameron P. Upchurch, Richard G. Wunderink, Grant W. Waterer, Carlos G. Grijalva, Kathryn M. Edwards
Article
Emergency Medicine
Cameron P. Upchurch, Nathan L. Haas, George Magnone, Jeffrey Compton
JOURNAL OF EMERGENCY MEDICINE
(2018)
Review
Toxicology
Cameron Upchurch, Adam Blumenberg, Daniel Brodie, Graeme MacLaren, Bishoy Zakhary, Robert G. Hendrickson
Summary: ECMO can provide hemodynamic or respiratory support to poisoned patients with refractory shock, cardiac arrest, or respiratory failure. Available literature suggests a potential benefit for ECMO use in selected poisoned patients. Future studies may help to further our understanding of the use and complications of ECMO in poisoned patients.
CLINICAL TOXICOLOGY
(2021)
Article
Emergency Medicine
Cameron P. Upchurch, Carlos G. Grijalva, Stephan Russ, Sean R. Collins, Matthew W. Semler, Todd W. Rice, Dandan Liu, Jesse M. Ehrenfeld, Kevin High, Tyler W. Barrett, Candace D. McNaughton, Wesley H. Self
ANNALS OF EMERGENCY MEDICINE
(2017)