Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]
, 2017 Austin, Christopher P. +8 more
core +2 more sources
'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases [PDF]
, 2010 Machtelt G. Bouwman +3 more
openalex +1 more source
BMEMat, EarlyView.Extracellular vesicles (EVs) derived from stem cells show promise for applications in regenerative medicine, but their scalability and yield remain challenges. This review explores the approaches for biophysical modulations within cell niches on EV properties, discusses the current clinical application of EVs, and provides an outlook on the existing ...
Yang Xu +9 more
wiley +1 more source
Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]
Front GenetLeal AF, Pachajoa H, Tomatsu S.
europepmc +1 more source
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification. [PDF]
Biomolecules, 2023 Keyzor I +10 more
europepmc +1 more source
BMEMat, EarlyView.Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen +7 more
wiley +1 more source
BMEMat, EarlyView.A nano‐drug based on retinoic acid and calcium is developed, which can be rapily endocytosed by microglia and decomposed into small molecule/ion storms in lysosomes. This nano‐drug regulates microglial phenotype switching from M1 to M2 while indirectly guiding neuronal differentiation of endogenous neural stem cells, thereby ameliorating ...
Shuo Zhang +13 more
wiley +1 more source
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]
J Inherit Metab DisAin NU, Vaishnaw M, Mistry PK.
europepmc +1 more source
Advancing design strategies in smart stimulus‐responsive liposomes for drug release and nanomedicine
BMEMat, EarlyView.Schematic illustration of stimulus‐responsive liposomes designed for controlled drug release and nanomedicine. The innermost circle represents different liposomal structures, including unilamellar, multilamellar, and multivesicular liposomes. The middle layer illustrates the responsive phospholipid components.
Yuchen Guo +9 more
wiley +1 more source