Results 151 to 160 of about 27,697 (237)

Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders. [PDF]

Adv Drug Deliv Rev, 2023
Placci M, Giannotti MI, Muro S.
europepmc   +1 more source

Accelerating Medicines Partnership® Parkinson's Disease Proteomics: A Comprehensive Resource for Advancing Parkinson's Disease Research

Movement Disorders, EarlyView.
Abstract Background Recent advances in proteomic profiling have enabled its use as a powerful approach in elucidating molecular mechanisms underlying Parkinson's disease, enabling the identification of disease‐associated protein alterations and candidate biomarkers for diagnosis, progression, and therapeutic response.
Victoria J. Dardov, Aparna Vasanthakumar, Ameya Kulkarni, Niveda Sundararaman, Rakhi Pandey, Preeti Bais, Jennifer E. Van, Maria Quinton, Barry Landin, David Vismer, Bradford Casey, Matt Bookman, Willy Nojopranoto, Erin Teeple, Can Kayatekin, Rajaraman Krishnan, Richard Hargreaves, Guhan Nagappan, S. Pablo Sardi, Sri Ramulu Pullagura, Christine Swanson‐Fischer, Accelerating Medicines Partnership Parkinson's Disease (AMP PD) Proteomics Working Group   +21 more
wiley   +1 more source

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management. [PDF]

JIMD Rep
Terrell A, Sapp K, Graham B, McPheron M, Wetherill L.   +4 more
europepmc   +1 more source

Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders. [PDF]

EMBO Mol Med, 2022
Nagree MS, Felizardo TC, Faber ML, Rybova J, Rupar CA, Foley SR, Fuller M, Fowler DH, Medin JA.   +8 more
europepmc   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders. [PDF]

Biomedicines
Vinci M, Zizzo C, Moschetti M, Giacomarra M, Anania M, Duro G, Di Chiara T, Russo M, Messina E, Colomba P, Duro G.   +10 more
europepmc   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders. [PDF]

Int J Mol Sci
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders. [PDF]

Indian J Med Res, 2023
Vanaja MC, Nurul Jain JM, Dalal A, Ranganath P.   +3 more
europepmc   +1 more source

Adipose Tissue‐Derived Small Extracellular Vesicles in Plasma Reveal Molecular Circuitries Underlying Glucose Intolerance

Obesity, EarlyView.
ABSTRACT Objective Glucose tolerance (GT) is a major effector for adipose tissue (AT) remodeling in obesity, yet its molecular mechanisms remain incompletely defined. We hypothesized that the biophysical and molecular profiles of AT‐derived small extracellular vesicles (sEVAT) change in response to glucose availability and differ by GT status.
Shalini Mishra, Yixin Su, Ashish Kumar, Sangeeta Singh, Brian S. Finlin, Fang‐Chi Hsu, Jingyun Lee, Cristina M. Furdui, Philip A. Kern, Swapan K. Das, Gagan Deep   +10 more
wiley   +1 more source