Article
Biochemistry & Molecular Biology
Claudia Rossi, Rossella Ferrante, Silvia Valentinuzzi, Mirco Zucchelli, Carlotta Buccolini, Sara Di Rado, Daniela Trotta, Liborio Stuppia, Luca Federici, Maurizio Arico
Summary: Gaucher disease is a lysosomal storage disease caused by a deficiency in lysosomal glucocerebrosidase, leading to the accumulation of glucosylceramide in various organs. Early detection and intervention are crucial for improving clinical outcomes.
Review
Chemistry, Multidisciplinary
Filip Pancik, Zuzana Pakanova, Filip Kveton, Peter Barath
Summary: Lysosomal storage disorders (LSD) are a group of rare inherited metabolic disorders caused by deficiency of specific enzymes. Lack of these enzymes leads to excessive accumulation of undegraded substrate, interfering with cellular functions. Early and accurate diagnostics are crucial for effective treatment. Mass spectrometry-based diagnostic methods offer improved sensitivity and reliability.
Article
Biochemistry & Molecular Biology
Corina-Marcela Rus, Sebastiano Di Bucchianico, Claudia Cozma, Ralf Zimmermann, Peter Bauer
Summary: This study aims to increase the efficiency of methods for biomarker development in the context of rare diseases through two independent experiments integrated into the screening of the human blood metabolome, leading to an improved impact on the reliability of detected compounds.
Review
Medicine, Research & Experimental
Giancarlo Parenti, Diego L. Medina, Andrea Ballabio
Summary: Lysosomal storage diseases are metabolic disorders caused by deficiencies in lysosomal function components. Understanding of lysosomal biology has evolved from organelles involved in catabolic pathways to dynamic elements involved in multiple cellular functions and capable of adapting to environmental stimuli. Novel technologies based on high-throughput approaches have greatly contributed to the characterization of lysosomal biology and dysfunction.
EMBO MOLECULAR MEDICINE
(2021)
Article
Medical Laboratory Technology
Hsuan-Chieh Liao, Rhona Jack, Anna I. Scott
Summary: The developed LC-MS/MS assay for measuring residual GALC activity in leukocytes provides a valuable tool for diagnosing Krabbe disease. With excellent stability and linear detection capabilities, the assay can effectively differentiate between different cases and carriers of the disease.
CLINICA CHIMICA ACTA
(2021)
Review
Biochemistry & Molecular Biology
Soenke Rudnik, Markus Damme
Summary: Lysosomes are organelles in eukaryotic cells that degrade macromolecules into basic building blocks through hydrolysis, with the metabolites being reused in biosynthetic pathways. Despite advancements in understanding the lysosomal membrane, there are still unresolved questions regarding its function, including storage capabilities, unidentified transporters, protein transport mechanisms, and turnover processes. Further research is needed for a comprehensive understanding of lysosomal communication with other organelles and cellular pathways.
Article
Endocrinology & Metabolism
Justin Mak, Tina M. Cowan
Summary: A single LC-MS method was developed for the simultaneous identification of lysosomal storage disorders, including various types of metabolic disorders related to oligosaccharides, mucopolysaccharides, and glycolipids. The method showed promising results in both biomarker discovery and clinical validation, with the ability to differentiate patients with lysosomal storage disorders from normal controls.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Medicine, Research & Experimental
Kalliopi Sofou, Kolja Meier, Leslie E. Sanderson, Debora Kaminski, Laia Montoliu-Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gaertner, Chris Muehlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin Cayuela, Fredrik H. Sterky
Summary: Patients with lysosomal storage disease-like symptoms were found to have homozygous mutations in VPS16, resulting in impaired cellular functions such as transferrin uptake and lysosomal accumulation, which were rescued by re-expression of VPS16. Disrupted vps16 expression in zebrafish led to developmental defects and similar lysosomal and autophagosomal accumulation in the brain. This expands the understanding of diseases resulting from mutations in HOPS/CORVET subunits.
EMBO MOLECULAR MEDICINE
(2021)
Review
Spectroscopy
Laura Darie-Ion, Brindusa Alina Petre
Summary: Lysosomal storage disorders (LSDs) are inherited metabolic disorders characterized by the accumulation of specific biomolecules in lysosomes due to enzyme deficiencies. While currently incurable, various treatment approaches such as enzyme replacement therapy and gene therapy are available. Timely diagnosis is crucial for effective patient management.
MASS SPECTROMETRY REVIEWS
(2023)
Article
Physics, Fluids & Plasmas
Dhanoj Gupta, Deepak Sharma, Ryan Ringle, Catherine Nicoloff, Igor Rahinov, Oded Heber, Daniel Zajfman
Summary: The dynamics of ions in an electrostatic ion beam trap under the influence of a time-dependent external field was investigated using a recently developed particle-in-cell simulation technique. The simulation, which accounts for space-charge effects, successfully reproduced all experimental results on bunch dynamics in the radio frequency mode. Through the simulation, the motion of ions in phase space was visualized and it was demonstrated that ion-ion interaction strongly influences the ion distribution in phase space under the presence of an rf driving voltage.
Article
Chemistry, Analytical
Linlin Sun, Xueliang Liu, Sihui Liu, Xiaofeng Chen, Zheng Li
Summary: The on-chip strategy combining conductive nanosensors with a chaotic gas micromixer enables real-time monitoring of volatile metabolites from urine for accurate diagnosis and classification of urinary tract cancers.
ANALYTICAL CHEMISTRY
(2023)
Article
Multidisciplinary Sciences
Florian Leonardus Rudolfus Lucas, Roderick Corstiaan Abraham Versloot, Liubov Yakovlieva, Marthe T. C. Walvoort, Giovanni Maglia
Summary: Nanopores can be used for protein identification by measuring peptide spectra produced from hydrolyzed proteins. The spectra from nanopore experiments and mass spectrometry share similar profiles, enabling protein fingerprinting. This approach is quantitative, showing the potential of a low-cost, portable nanopore-based analyzer for protein identification.
NATURE COMMUNICATIONS
(2021)
Review
Genetics & Heredity
Edward H. Schuchman, Maria D. Ledesma, Calogera M. Simonaro
Summary: In recent years, researchers have begun to focus on finding drugs that can be used for multiple lysosomal diseases to overcome the challenges in current treatment, with particular attention to common pathological mechanisms in the central nervous system.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Pediatrics
Toki Fillman, Jamie Matteson, Hao Tang, Deepika Mathur, Rana Zahedi, Indranil Sen, Tracey Bishop, Partha Neogi, Lisa Feuchtbaum, Richard S. Olney, Stanley Sciortino
Summary: This study reports on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening in California. A 2-tiered approach was used, with enzyme activity assay and DNA sequencing. 7 cases of Hurler syndrome and 2 cases of attenuated MPS I were identified among the screened newborns. Continued long-term follow-up is crucial for understanding the genotype-phenotype relationships of MPS I.
JOURNAL OF PEDIATRICS
(2023)
Editorial Material
Cell Biology
Antonio Monaco, Alessandro Fraldi
Summary: Mucopolysaccharidoses (MPS) are inherited metabolic diseases with strong neurological involvement. Impairment of autophagy pathway is a key factor driving neurodegeneration in MPS, particularly downstream of the GAG storage.
Review
Rheumatology
Shudan Wang, Ming Wu, Luis Chiriboga, Briana Zeck, H. Michael Belmont
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2018)
Article
Orthopedics
S. Wang, M. H. Pillinger, S. Krasnokutsky, K. E. Barbour
OSTEOARTHRITIS AND CARTILAGE
(2019)
Article
Rheumatology
Shudan Wang, Ming Wu, Luis Chiriboga, Briana Zeck, Beatrice Goilav, Shuwei Wang, Alejandra Londono Jimenez, Chaim Putterman, Daniel Schwartz, James Pullman, Anna Broder, H. Michael Belmont
Summary: This study revealed that tubular MAC deposition is associated with higher levels of IFTA and proteinuria, which are predictors of progression to ESRD.
LUPUS SCIENCE & MEDICINE
(2022)
Article
Urology & Nephrology
Shudan Wang, Allan Spielman, Mindy Ginsberg, Michelle Petri, Brad H. Rovin, Jill Buyon, Anna Broder
Summary: This study assessed disease progression in SLE patients with low-grade proteinuria and identified risk factors for progressing to overt proteinuria. The findings showed that over half of the patients progressed to overt proteinuria in a short time period. Low complement and shorter SLE duration at low-grade proteinuria onset were associated with progression.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Rheumatology
Shudan Wang, Anna Broder, Daming Shao, Vartika Kesarwani, Brianna Boderman, Jennifer Aguilan, Simone Sidoli, Masako Suzuki, John M. Greally, Yvonne M. Saenger, Brad H. Rovin, J. Michelle Kahlenberg
Summary: This study compared the urinary complement profile in LN patients with moderate/severe IFTA and none/mild IFTA in human tissues. The study identified C3, CFI, and C9-to-CD59 ratio as potential markers of tubulointerstitial fibrosis in LN.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2023)