Results 171 to 180 of about 3,524,002 (263)

Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]

J Inherit Metab Dis
Ludlaim AM, Waddington SN, McKay TR.
europepmc   +1 more source

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases. [PDF]

Biomedicines, 2022
La Cognata V, Cavallaro S.
europepmc   +1 more source

Lysosomal Storage Diseases—Regulating Neurodegeneration

Journal of Experimental Neuroscience, 2016
Rob U. Onyenwoke, Jay E. Brenman
doaj  

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

American 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, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Neurological manifestations of lysosomal storage diseases. [PDF]

Ann Med Surg (Lond)
Elendu C, Babawale EA, Babarinde FO, Babatunde OD, Chukwu C, Chiegboka SF, Shode OP, Ngozi-Ibeh JK, Njoku A, Ikokwu MN, Kaka GU, Hassan JI, Fatungase OO, Osifodunrin T, Udoeze CA, Ikeji VI.   +15 more
europepmc   +1 more source

Advancing the Research and Development of Enzyme Replacement Therapies for Lysosomal Storage Diseases. [PDF]

GEN Biotechnol, 2022
Puhl AC, Ekins S.
europepmc   +1 more source

Biophysical Characterization and Proteomic Analysis of Small Extracellular Vesicles Derived From Different Neural Cell Lines

Advanced NanoBiomed Research, EarlyView.
This study systematically compares small extracellular vesicles (sEVs) derived from four neural cell lines, revealing how cellular origin shapes vesicle biophysical properties and proteomic cargo. Distinct, lineage‐specific signatures linked to neuronal, astrocytic, and microglial functions are identified, highlighting the importance of cell source ...
Muhammad Waqas Salim, Wei Zhang, Lyndsey E. Collins‐Praino, Andrew Care, Yuling Wang   +4 more
wiley   +1 more source

Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases. [PDF]

Sci Rep
Alblooshi A, Zaabi NA, Albadi G, Al-Jasmi FA.   +3 more
europepmc   +1 more source

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. [PDF]

Int J Mol Sci, 2022
Stepien KM, Cufflin N, Donald A, Jones S, Church H, Hargreaves IP.   +5 more
europepmc   +1 more source

Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases. [PDF]

Life (Basel)
Lerussi G, Villagrasa-Araya V, Moltó-Abad M, Del Toro M, Pintos-Morell G, Seras-Franzoso J, Abasolo I.   +6 more
europepmc   +1 more source