Cryo-EM structures of pathogenic fibrils and their impact on neurodegenerative disease research

Authors: Todd, Tiffany W., Islam, Naeyma N., Cook, Casey N., Caulfield, Thomas R., Petrucelli, Leonard

Source: In Neuron 17 July 2024 112(14):2269-2288

Substitution of PINK1 Gly411 modulates substrate receptivity and turnover

Authors: Fiesel, Fabienne C, Fričová, Dominika, Hayes, Caleb S, Coban, Mathew A, Hudec, Roman, Bredenberg, Jenny M, Broadway, Benjamin J, Markham, Briana N, Yan, Tingxiang, Boneski, Paige K, Fiorino, Gabriella, Watzlawik, Jens O, Hou, Xu, McCarty, Arthur M, Lewis-Tuffin, Laura J, Zhong, Jun, Madden, Benjamin J, Ordureau, Alban, An, Heeseon, Puschmann, Andreas, Wszolek, Zbigniew K, Ross, Owen A, Harper, J Wade, Caulfield, Thomas R, Springer, Wolfdieter

Source: Autophagy. 19(6):1711-1732

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185048118.0x000001&indx=1&recIds=ETOCvdc_100185048118.0x000001

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

Authors: Selvam, Pavalan, Jain, Angita, Abbott, Jessica, Ahuja, Abhimanyu S., Cheema, Anvir, Bruno, Katelyn A., Atwal, Herjot, Forghani, Irman, Caulfield, Thomas, Atwal, Paldeep S.

Source: Molecular syndromology. 13(4):282-289

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100156362822.0x000001&indx=1&recIds=ETOCvdc_100156362822.0x000001

A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers

Authors: Norris, Gregory A., Tsai, Anne Chun-hui, Schneider, Kami Wolfe, Wu, Yuan-Haw, Caulfield, Thomas, Green, Adam L.

Source: In Cancer Genetics June 2021 254-255:18-24

Platforms for Personalized Polytherapeutics Discovery in COVID-19

Authors: Hopkins, Christopher, Onweni, Chidinma, Zambito, Victoria, Fairweather, DeLisa, McCormick, Kathryn, Ebihara, Hideki, Caulfield, Thomas, Zhang, Yu Shrike, Freeman, W. David

Source: In Journal of Molecular Biology 14 May 2021 433(10)

Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect

Authors: Richter, John E., Hines, S., Selvam, Pavalan, Atwal, Herjot, Farres, Houssam, Caulfield, Thomas R., Atwal, Paldeep S.

Source: Cancer genetics. 252:107-110

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135901890.0x000001&indx=1&recIds=ETOCvdc_100135901890.0x000001

Structural And Computational Perspectives of Selectively Targeting Mutant Proteins

Authors: Coban, Mathew A., Fraga, Sarah, Caulfield, Thomas R.

Source: Current drug discovery technologies. 18(3):365-378

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123194699.0x000001&indx=1&recIds=ETOCvdc_100123194699.0x000001

Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics

Authors: Hopkins, Christopher E., Brock, Trisha, Caulfield, Thomas R., Bainbridge, Matthew

Source: Molecular aspects of medicine. 91

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189705623.0x000001&indx=1&recIds=ETOCvdc_100189705623.0x000001

Protein structure-based in-silico approaches to drug discovery: Guide to COVID-19 therapeutics

Authors: Gupta, Yash, Savytskyi, Oleksandr V., Coban, Matt, Venugopal, Amoghavarsha, Pleqi, Vasili, Weber, Caleb A., Chitale, Rohit, Durvasula, Ravi, Hopkins, Christopher, Kempaiah, Prakasha, Caulfield, Thomas R.

Source: Molecular aspects of medicine. 91

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188806566.0x000001&indx=1&recIds=ETOCvdc_100188806566.0x000001

Three-tier stratification for CNS COVID-19 to help decide which patients should undergo lumbar puncture with CSF analysis: a case report and literature review

Authors: Ramakrishna Jahanavi M., Libertin Claudia R., Siegel Jason, Binnicker Matthew J., Harris Dana, Matcha Gautam V., Caulfield Thomas, Freeman W. D.

Source: Romanian Journal of Internal Medicine, Vol 59, Iss 1, Pp 88-92 (2021)

Subject Terms: covid-19, sars-cov-2, encephalitis, lumbar puncture, cerebral spinal fluid, Internal medicine, RC31-1245

File Description: electronic resource

Relation: https://doaj.org/toc/2501-062X

Access URL: https://doaj.org/article/0b7222095b5342baaa0264726ead5aab

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

Authors: Ahuja, Abhimanyu S., Selvam, Pavalan, Vadlamudi, Charitha, Chopra, Hayley, Richter, John E., Macklin, Sarah K., Samreen, Ayesha, Helmi, Haytham, Mohammaad, Ahmed N., Hines, Stephanie, Davila, Maria C., Atwal, Paldeep S., Caulfield, Thomas R.

Source: Ophthalmic genetics. 41(6):563-569

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111349783.0x000001&indx=1&recIds=ETOCvdc_100111349783.0x000001

Disulfide engineering of human Kunitz-type serine protease inhibitors enhances proteolytic stability and target affinity toward mesotrypsin

Authors: Cohen, Itay, Coban, Matt, Shahar, Anat, Sankaran, Banumathi, Hockla, Alexandra, Lacham, Shiran, Caulfield, Thomas R. ^**, Radisky, Evette S., Papo, Niv

Source: In Journal of Biological Chemistry 29 March 2019 294(13):5105-5120

Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.

Authors: Bustillos, Bernardo A., Cocker, Liam T., Coban, Mathew A., Weber, Caleb A., Bredenberg, Jenny M., Boneski, Paige K., Siuda, Joanna, Slawek, Jaroslaw, Puschmann, Andreas, Narendra, Derek P., Graff-Radford, Neill R., Wszolek, Zbigniew K., Dickson, Dennis W., Ross, Owen A., Caulfield, Thomas R., Springer, Wolfdieter, Fiesel, Fabienne C.

Source: Cells (2073-4409); Sep2024, Vol. 13 Issue 18, p1540, 20p

Subject Terms: PARKINSON'S disease, UBIQUITIN, FIBROBLASTS, FUNCTIONAL analysis, FLOW cytometry

A novel histone deacetylase inhibitor W2A-16 improves the barrier integrity in brain vascular endothelial cells.

Authors: Yasuteru Inoue, Yingxue Ren, Shuwen Zhang, Bamkole, Michael, Islam, Naeyma N., Selvaraj, Manikandan, Wenyan Lu, Caulfield, Thomas R., Yonghe Li, Takahisa Kanekiyo

Source: Frontiers in Cellular Neuroscience; 2024, p1-11, 11p

HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.

Authors: Calliari, Anna, Daughrity, Lillian M., Albagli, Ellen A., Castellanos Otero, Paula, Yue, Mei, Jansen-West, Karen, Islam, Naeyma N., Caulfield, Thomas, Rawlinson, Bailey, DeTure, Michael, Cook, Casey, Graff-Radford, Neill R., Day, Gregory S., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Josephs, Keith A., Oskarsson, Björn, Gitler, Aaron D., Dickson, Dennis W.

Source: Molecular Neurodegeneration; 7/27/2024, Vol. 19 Issue 1, p1-5, 5p

Subject Terms: NEURODEGENERATION, PATHOLOGY, DNA-binding proteins, PROTEINS, TAR

The crosstalk between neuropilin-1 and tumor necrosis factor-α in endothelial cells.

Authors: Ying Wang, Enfeng Wang, Anany, Mohamed, Füllsack, Simone, Yu Henry Huo, Dutta, Shamit, Baoan Ji, Hoeppner, Luke H., Kilari, Sreenivasulu, Misra, Sanjay, Caulfield, Thomas, Vander Kooi, Craig W., Wajant, Harald, Mukhopadhyay, Debabrata

Source: Frontiers in Cell & Developmental Biology; 2024, p1-13, 13p

Subject Terms: ENDOTHELIAL cells, CD54 antigen, VASCULAR endothelial cells, CELL receptors, CELL adhesion molecules

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TRIO gene segregation in a family with cerebellar ataxia

Authors: Hanna Al Shaikh, Rana, Caulfield, Thomas, Strongosky, Audrey J., Matthew, Mavis, Jansen-West, Karen R., Prudencio, Mercedes, Fryer, John D., Petrucelli, Leonard, Uitti, Ryan J., Wszolek, Zbigniew K.

Source: In Neurologia i Neurochirurgia Polska November-December 2018 52(6):743-749

ENDOSCOPIC GASTRIC REMODELING FOR THE TREATMENT OF DIABESITY: AN ORGAN-ON-A-CHIP MODEL

Authors: Bakheet, Nader, Maharjan, Sushila, Ouni, Ahmed, Coban, Mathew, Huang, Yuting, Chase, Katherine, Li, Zhen, Caulfield, Thomas, Zhang, Y. Shrike, Kumbhari, Vivek

Source: Gastrointestinal endoscopy. 97(6):AB2-AB3

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192822867.0x000001&indx=1&recIds=ETOCvdc_100192822867.0x000001

Development of multi-drug loaded PEGylated nanodiamonds to inhibit tumor growth and metastasis in genetically engineered mouse models of pancreatic cancerElectronic supplementary information (ESI) available. See DOI: 10.1039/c9nr05478b

Authors: Madamsetty, Vijay Sagar, Pal, Krishnendu, Keshavan, Sandeep, Caulfield, Thomas R., Dutta, Shamit Kumar, Wang, Enfeng, Fadeel, Bengt, Mukhopadhyay, Debabrata

Source: Nanoscale. 11(45):22006-22018

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093055482.0x000001&indx=1&recIds=ETOCvdc_100093055482.0x000001