Article
Medicine, General & Internal
Marie Beaudin, Tahereh Kamali, Whitney Tang, Katharine A. Hagerman, Sally Dunaway Young, Lisa Ghiglieri, Dana M. Parker, Benoit Lehallier, Carolina Tesi-Rocha, Jacinda B. Sampson, Tina Duong, John W. Day
Summary: This study explored the therapeutic pathways and predictors of motor improvement in spinal muscular atrophy (SMA) patients treated with nusinersen through a proteomic analysis of their cerebrospinal fluid (CSF). The study identified certain proteins using a machine learning algorithm that were predictive of motor improvement after 2 years of treatment. These findings highlight the potential application of CSF biomarkers in predicting treatment response in SMA patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Jonas Peper, Daniel Kownatzki-Danger, Gunnar Weninger, Fitzwilliam Seibertz, Julius Ryan D. Pronto, Henry Sutanto, David Pacheu-Grau, Robin Hindmarsh, Soeren Brandenburg, Tobias Kohl, Gerd Hasenfuss, Michael Gotthardt, Eva A. Rog-Zielinska, Bernd Wollnik, Peter Rehling, Henning Urlaub, Joerg Wegener, Jordi Heijman, Niels Voigt, Lukas Cyganek, Christof Lenz, Stephan E. Lehnart
Summary: Utilizing proteomic techniques, CAV1 and CAV3 isoform-specific protein interactions were analyzed in cardiomyocytes, revealing McT1 as a metabolically relevant CAV3-specific interactor. CRISPR/Cas9-mediated CAV3 knockout demonstrated the functional stabilization role of McT1 in human cardiomyocytes, leading to action potential prolongation and instability. These findings suggest potential therapeutic targets for muscle-specific assembly function related to lactate metabolism.
CIRCULATION RESEARCH
(2021)
Article
Cell Biology
Sharon J. Brown, Rachel A. Kline, Silvia A. Synowsky, Sally L. Shirran, Ian Holt, Kelly A. Sillence, Peter Claus, Brunhilde Wirth, Thomas M. Wishart, Heidi R. Fuller
Summary: This study conducted proteomic profiling of skin fibroblasts from different severities of spinal muscular atrophy (SMA) patients. The results showed limited overlap in differentially expressed proteomic profiles among different types of SMA, and the greatest variability was observed within SMA II fibroblasts. Despite limited proteomic overlap, common enriched canonical pathways were identified in two of the three SMA severities. The study also identified protein profiles that may be associated with SMA severity.
Review
Biochemistry & Molecular Biology
Raffaella Adami, Daniele Bottai
Summary: Studying neural stem cells (NSCs) from spinal muscular atrophy (SMA) patients is important for identifying new treatment targets and supporting affected patients. However, studying NSCs in living patients is challenging, but can be done using animal models or induced pluripotent stem cells. Therapeutic interventions like NSCs transplantation could improve SMA condition.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Neurosciences
Brunhilde Wirth
Summary: The review highlights the challenging journey from gene discovery to therapy in spinal muscular atrophy (SMA), emphasizing the importance of perseverance in uncovering the biological mechanisms of the disease. Despite the impressive improvements seen with three therapeutic strategies in SMA, there are still many unanswered questions that need to be addressed as discussed in the review.
TRENDS IN NEUROSCIENCES
(2021)
Article
Pediatrics
Gloria Ferrantini, Giorgia Coratti, Roberta Onesimo, Simona Lucibello, Sarah Bompard, Ida Turrini, Graziamaria Cicala, Michela Caprarelli, Maria Carmela Pera, Chiara Bravetti, Beatrice Berti, Valentina Giorgio, Claudio Bruno, Noemi Brolatti, Chiara Panicucci, Adele D'Amico, Antonella Longo, Chiara Leoni, Valeria A. Sansone, Emilio Albamonte, Sonia Messina, Maria Sframeli, Enrico Bertini, Marika Pane, Eugenio Mercuri
Summary: This retrospective study aimed to assess body mass index (BMI) in Italian pediatric type 2 spinal muscular atrophy (SMA) patients, and found differences in BMI among different age groups. The results suggest that careful monitoring of weight and BMI/age z-scores is necessary in type 2 SMA patients, and further research is needed to understand the underlying mechanisms of weight issues.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Nutrition & Dietetics
Andrea Foppiani, Ramona De Amicis, Alessandro Leone, Simone Ravella, Giorgio Bedogni, Alberto Battezzati, Adele D'Amico, Enrico Bertini, Marina Pedemonte, Claudio Bruno, Caterina Agosto, Chiara Mastella, Ester Giaquinto, Riccardo Masson, Giovanni Baranello, Simona Bertoli
Summary: This study aimed to develop predictive fat mass equations for SMA I children based on simple measurements and compare them with existing equations. Non-linear relations in predictors were handled by restricted cubic splines, and the best model was selected and internally validated to quantify optimism of the obtained performance measures. The addition of nusinersen as a predictor variable did not significantly affect the final models.
CLINICAL NUTRITION
(2021)
Article
Environmental Sciences
Charlotte Mappa, Olivier Pible, Jean Armengaud, Beatrice Alpha-Bazin
Summary: The use of mass spectrometry for rapid identification of microorganisms has been expanding in recent years due to its efficiency. This methodology is crucial in combating bioterrorism by providing quick and versatile pathogen identification, including subtyping for confirmation of widespread attacks. The study presented a new methodology based on next-generation proteomics and tandem mass spectrometry to discover protein biomarkers for discriminating spores and vegetative cells, with a focus on Bacillus atrophaeus, a biowarfare simulant. The researchers proposed a global quantitative evaluation of discriminant biomarkers for these two groups based on normalized spectral abundance factors.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Yewei Wang, Zeljka Popovic, Georgia Charkoftaki, Rolando Garcia-Milian, TuKiet T. Lam, David C. Thompson, Ying Chen, Vasilis Vasiliou
Summary: This study identifies the impact of knocking down ALDH1B1 on molecular signatures in colon cancer cells through multi-omics analysis. The findings provide new molecular information associated with the cellular functions of ALDH1B1, which will guide future investigations of colon cancer.
CHEMICO-BIOLOGICAL INTERACTIONS
(2023)
Article
Medicine, Research & Experimental
Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Melissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. Wood, Kenneth H. Fischbeck
Summary: Research shows that ASOs targeting the 50 end of SMN2 can increase SMN mRNA and protein levels by inhibiting SMN2 mRNA decay. Combining 50 UTR ASO with SSO can elevate SMN levels beyond those achieved with SSO alone, offering a new therapeutic target for SMA.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2021)
Article
Cell Biology
Yipeng Du, Xiaoting Li, Wenying Yan, Zhaohua Zeng, Dunzheng Han, Hong Ouyang, Xiudi Pan, Bihui Luo, Bohua Zhou, Qiang Fu, Dongfeng Lu, Zheng Huang, Zhiliang Li
Summary: The study utilized mutant MetRS to label proteomes of mesenchymal stem cells and demonstrated efficient incorporation of ANL in protein synthesis in ischemic hind limb. The transplanted MSCs significantly improved blood reperfusion and vessel density while reducing inflammation in hindlimb ischemia model. Proteomic analysis revealed differential protein expression in apoptosis and energy metabolism pathways between ischemic and sham groups.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Chemistry, Analytical
Zhiqing Hu, Miaomiao Chen, Chunhua Zhang, Zhuo Li, Mai Feng, Lingqian Wu, Miaojin Zhou, Desheng Liang
Summary: Spinal muscular atrophy (SMA) is a major genetic cause of infant death. Researchers have developed a novel nucleic acid diagnostic method combining CRISPR/Cas14a1 and asymmetric PCR, which can specifically and sensitively detect the deletion of exon 7 of the SMN1 gene in SMA patients. The method has been validated in clinical samples and showed consistent results with other detection methods, demonstrating its potential as an accurate detection platform for genetic diseases and pathogens.
Article
Clinical Neurology
Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano-Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais
Summary: This study aimed to devise a rational and systematic approach for defining and grouping disease-modifying treatment scenarios for survival motor neuron-targeted diseases. The proposed classification, based on initial and subsequent treatment differentiation, was validated by applying it to the patients in the RESTORE registry.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Meletia Kallianta, Eftychia Pappa, Heleni Vastardis, Christos Rahiotis
Summary: Mass Spectrometry (MS) is a highly sensitive and universal analytical technique that has rapidly developed in recent decades. It has various applications in dentistry, including research on dental materials and agents, laboratory analysis of biospecimens, and real-time diagnostics in oral surgery and pathology. MS can provide valuable insights into the clinical behavior, toxicity, antimicrobial properties, and biomarkers of dental materials and agents. It is also effective in detecting biomarkers in saliva and providing a comprehensive understanding of cellular functions through metabolite analysis. Additionally, MS shows promising potential for surgical approaches to oral malignant disorders. Overall, MS has revolutionized dental research and has the potential to advance personalized dentistry.
Review
Spectroscopy
Leena R. Pade, Kaitlyn E. Stepler, Erika P. Portero, Kellen DeLaney, Peter Nemes
Summary: Biological processes unfold across broad spatial and temporal dimensions, and measurement of the underlying molecular world is essential to their understanding. Mass spectrometry (MS) has advanced significantly, allowing for precise analysis of molecular architecture at various levels, with high detection sensitivity and scalability. This review highlights technology innovations that have improved sample collection and processing, chemical separation, ionization, and 'omics analyses, enabling deeper study of limited and dynamic specimens. The integration of orthogonal approaches from molecular and functional studies, combined with spatiotemporal MS, has become an exciting and powerful resource in the study of biological systems.
MASS SPECTROMETRY REVIEWS
(2023)
Article
Biochemistry & Molecular Biology
Joseph A. Caruso, Nicholas J. Carruthers, Bryan Thibodeau, Timothy J. Geddes, Alan A. Dombkowski, Paul M. Stemmer
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2018)
Article
Urology & Nephrology
Larisa Kovacevic, Hong Lu, Joseph A. Caruso, Natalija Kovacevic, Yegappan Lakshmanan
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2018)
Article
Biochemistry & Molecular Biology
Diego Sbrissa, Louie Semaan, Barani Govindarajan, Yanfeng Li, Nicholas J. Caruthers, Paul M. Stemmer, Michael L. Cher, Seema Sethi, Ulka Vaishampayan, Assia Shisheva, Sreenivasa R. Chinni
Article
Urology & Nephrology
Larisa Kovacevic, Joseph A. Caruso, Hong Lu, Natalija Kovacevic, Yegappan Lakshmanan, Nicholas J. Carruthers, David S. Goldfarb
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2019)
Article
Biochemical Research Methods
Zhijing Tan, Xinpei Yi, Nicholas J. Carruthers, Paul M. Stemmer, David M. Lubman
JOURNAL OF PROTEOME RESEARCH
(2019)
Article
Materials Science, Biomaterials
Akshata R. Naik, Sebastian Pernal, Kenneth T. Lewis, Yaobin Wu, Hongkai Wu, Nicholas J. Carruthers, Paul M. Stemmer, Bhanu P. Jena
ACS BIOMATERIALS SCIENCE & ENGINEERING
(2019)
Article
Pharmacology & Pharmacy
Sarah Dubaisi, Joseph A. Caruso, Roger Gaedigk, Carrie A. Vyhlidal, Philip C. Smith, Ronald N. Hines, Thomas A. Kocarek, Melissa Runge-Morris
DRUG METABOLISM AND DISPOSITION
(2019)
Review
Oncology
Qian Zhang, Chitra Thakur, Junwei Shi, Jiaying Sun, Yao Fu, Paul Stemmer, Fei Chen
SEMINARS IN CANCER BIOLOGY
(2019)
Article
Clinical Neurology
Joyce A. Benjamins, Liljana Nedelkoska, Hanane Touil, Paul M. Stemmer, Nicholas J. Carruthers, Bhanu P. Jena, Akshata R. Naik, Amit Bar-Or, Robert P. Lisak
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2019)
Article
Biochemical Research Methods
Zhijing Tan, Jianhui Zhu, Paul M. Stemmer, Liangliang Sun, Zhichang Yang, Kendall Schultz, Matthew J. Gaffrey, Anthony J. Cesnik, Xinpei Yi, Xiaohu Hao, Michael R. Shortreed, Tujin Shi, David M. Lubman
JOURNAL OF PROTEOME RESEARCH
(2020)
Article
Multidisciplinary Sciences
Bengt B. Arnetz, Sukhesh Sudan, Judith E. Arnetz, Jolin B. Yamin, Mark A. Lumley, John S. Beck, Paul M. Stemmer, Paul Burghardt, Scott E. Counts, Hikmet Jamil
Article
Cell Biology
Chen Hu, Mu Zhang, Niko Moses, Cong-li Hu, Lisa Polin, Wei Chen, Hyejeong Jang, Joshua Heyza, Agnes Malysa, Joseph A. Caruso, Shengyan Xiang, Steve Patrick, Paul Stemmer, Zhenkun Lou, Wenlong Bai, Chuangui Wang, Gerold Bepler, Xiaohong Mary Zhang
CELL DEATH & DISEASE
(2020)
Article
Biology
Anna Lokshin, Lyudmila M. Mikhaleva, Eugene Goufman, Marina N. Boltovskaya, Natalia B. Tikhonova, Irina I. Stepanova, Alexandr A. Stepanov, Natalia Potoldykova, Andrey Z. Vinarov, Paul Stemmer, Vasily Iakovlev
Summary: The study found that digested immunoglobulins in prostate cancer patients bind differently to plasminogen compared to patients with benign prostate hyperplasia and healthy controls, serving as a potential biomarker for prostate cancer detection. The diagnostic accuracy of circulating IgG-Lys levels in distinguishing between prostate cancer and benign prostatic hyperplasia is significantly higher than that of total PSA.
Article
Environmental Sciences
Zhao Yang, Paul M. Stemmer, Michael C. Petriello
Summary: This study identified a protein:protein interaction network for the hepatic xenobiotic metabolizing enzyme FMO3 and validated its association with genes involved in the urea cycle. Deficiency of FMO3 led to overexpression of the rate-limiting gene of the urea cycle, CPS1, and increased hepatic urea levels. These findings suggest a role for FMO3 in chronic kidney disease independent of TMAO formation.
Article
Biochemistry & Molecular Biology
Jordan B. Burton, Nicholas J. Carruthers, Zhanjun Hou, Larry H. Matherly, Paul M. Stemmer
Summary: Localization of organelle proteins by isotope tagging (LOPIT) is a method that represents proteome data in a coordinate-directed manner, aiding in biological interpretation. LOPIT maps help evaluate and interpret protein organellar association in different proteomic data sets.