Results 141 to 150 of about 45,966 (272)

Galactosialidosis in two siblings

The Turkish Journal of Pediatrics, 1996
Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of alpha-galactosidase and beta-neurominidase. In this report, two siblings with galactosialidosis, resembling Niemann-Pick disease with the presence of foamy cells
A Yuce, N Kocak, G T Besley
doaj  

Advancements in Mass Spectrometry‐Based Glycomics in Food and Nutritional Science

Mass Spectrometry Reviews, EarlyView.
ABSTRACT This review highlights advancements in mass spectrometry (MS)‐based glycomics in food and nutritional science. Carbohydrates, which are vital for human health, exhibit complex structures, making their analysis challenging. MS has become an indispensable tool for elucidating the structures of carbohydrates, including glycans, through soft ...
JaeHui Song, HyunJi Lee, Youngshik Choe, Hyeyoung Lee   +3 more
wiley   +1 more source

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Studies with plant alpha-galactosidases

, 1976
The two molecular forms, I and II, of [alpha]-galactosidase from immature, mature (resting) and germinated vicia faba seeds have been studied. The enzymes have been purified by a multistage procedure and, in particular, the effect these stages have upon the relative isoenzyme levels has been investigated.
openaire   +1 more source

Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]

, 2014
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan, Muačević-Katanec, Diana, Pećin, Ivan, Reiner, Željko, Šimić, Iveta, Šućur, Nediljko   +5 more
core  

Bridging Psychological Stress and Skin Cellular Aging: Flavonoids as a Dual‐Action Therapeutic Strategy

Phytotherapy Research, EarlyView.
ABSTRACT Psychological stress (or simply “stress”) is a major contributor to chronic disease worldwide, affecting 35% of the global population, including younger generations. Furthermore, it plays a significant role in human premature aging; hence, its detrimental effects on people's health compel us to comprehend and control the ways in which ...
Marco Duarte, Sílvia Santos Pedrosa, P. Raaj Khusial, Ana Raquel Madureira   +3 more
wiley   +1 more source

Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis. [PDF]

Clinics (Sao Paulo), 2020
Hasbal NB, Caglayan FB, Sakaci T, Ahbap E, Koc Y, Sevinc M, Ucar ZA, Unsal A, Basturk T.   +8 more
europepmc   +1 more source

Lipid Nanoparticles Delivering ClpP‐mRNA Suppress Pyroptosis and Senescence in Intervertebral Disc Degeneration via mTOR/BNIP3‐Activated Mitophagy

Rare Metals, EarlyView.
ABSTRACT Intervertebral disc degeneration (IDD) is a predominant cause of low back pain, significantly impacting quality of life. Mitochondrial fitness is essential in the progression of IDD, as it regulates cellular senescence and pyroptosis. This study investigates the role of mitochondrial caseinolytic protease P (ClpP) in alleviating senescence and
Kun Wang, Zhiqiang Wang, Tong Zhang, Shicheng Qiu, Guang Yang, Yanzheng Gao, Xiaofeng Lian, Xin Peng   +7 more
wiley   +1 more source

Proteomic Profiling of Alveolar Macrophages Identifies Loss of Lysosomal Content as an Indicator of Nanofiber‐Induced Frustrated Phagocytosis

Small, EarlyView.
This proteomic study examines how nanofibers affect lung macrophages by analyzing protein changes following exposure to various fibrous materials. Nanofibers triggered the release of inflammatory enzymes, and importantly, lysosomal content release was identified as an early event associated with frustrated phagocytosis. Seventeen sensitive and relevant
Tobias Stobernack, Antje Vennemann, Carla Ribalta, Julia Schendel, Oliver Gräb, Rico Ledwith, Mario Pink, Andrea Haase, Martin Wiemann, Verónica I. Dumit   +9 more
wiley   +1 more source

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease. [PDF]

Int J Mol Sci, 2020
van der Veen SJ, Vlietstra WJ, van Dussen L, van Kuilenburg ABP, Dijkgraaf MGW, Lenders M, Brand E, Wanner C, Hughes D, Elliott PM, Hollak CEM, Langeveld M.   +11 more
europepmc   +1 more source