Results 181 to 190 of about 2,885,518 (281)

Exogenous estrogen partially rescues progesterone deficiency and autophagosome enlargement in <i>Mcoln1</i> <sup>-/-</sup> mouse model with lysosomal storage disorder. [PDF]

open access: yesReprod Dev Med
Wang Z   +9 more
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo   +5 more
wiley   +1 more source

Understanding the Pattern of Cognitive Decline in GBA1‐Related Parkinson's Disease: An Exploratory Longitudinal Multi‐Cohort Study

open access: yesAnnals of Neurology, EarlyView.
Objective People with Parkinson's disease (PD) who carry a pathogenic GBA1 variant (PDGBA1) are at higher risk of cognitive impairment than those without the variant (PDGBA1_wildtype). To date, little is known about the pattern and evolution of cognitive decline in PDGBA1. This multicenter study characterized the cognitive profile of PDGBA, focusing on
Merle Bode   +345 more
wiley   +1 more source

Lysosomal storage diseases

open access: yes, 2012
Individually, lysosomal storage disorders are rare genetic diseases. However, as a group, they are relatively common and represent an important health problem.
Adenegan, Adesola Idowu
core  

Biomimetic Nanomedicine for Aging‐Impaired Bone Regeneration: From Microenvironmental Dysfunction to Precision Therapeutics

open access: yesAdvanced NanoBiomed Research, EarlyView.
Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang   +12 more
wiley   +1 more source

Comparative Transcriptional Profiling of Key Macrophage and Fibroblast Subpopulations in Rheumatoid Arthritis–Associated Lung Disease

open access: yesArthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) often involves extra‐articular complications, including interstitial lung disease (ILD) and/or pulmonary nodules. Transcriptomic profiling of lung tissue provides the opportunity to directly assess cell‐specific gene expression and corresponding pathway activation in different types of rheumatoid lung disease ...
Tracy Tabib   +8 more
wiley   +1 more source

Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy

open access: yesBMEMat, EarlyView.
Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu   +5 more
wiley   +1 more source

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