Results 141 to 150 of about 27,697 (237)

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. [PDF]

Orphanet J Rare Dis
Makhamreh MM, Shivashankar K, Rice SM, Wodoslawsky S, Grant C, McLaren R, Berger SI, Al-Kouatly HB.   +7 more
europepmc   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

Uncovering the Complexity of Synucleinopathies: An Ongoing Tale Between Proteins and Lipids

Movement Disorders, EarlyView.
Abstract Neurodegenerative diseases are pathological states characterized by progressive alterations in brain homeostasis during aging. Synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are defined neuropathologically by the accumulation of inclusions known as Lewy bodies and Lewy neurites.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders. [PDF]

Ital J Pediatr
Abuzaid Y, Suliman GAM, Toulba OARER, Elezz AAEBA, Badraldeen A, Dawoud H.   +5 more
europepmc   +1 more source

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. [PDF]

EMBO J, 2022
Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Luis Medina D, Spampanato C, Olind Fedele A, Polishchuk R, Sorrentino NC, Simons K, Ballabio A.   +10 more
europepmc   +1 more source

The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1‐Associated Parkinsonism

Movement Disorders, EarlyView.
Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan J. Marugan, Ellen Sidransky   +5 more
wiley   +1 more source

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China. [PDF]

Genome Med
Wang X, Sun Y, Guan XW, Wang YY, Hong DY, Zhang ZL, Li YH, Yang PY, Jiang T, Xu ZF.   +9 more
europepmc   +1 more source

Role of the Lactide:Glycolide Ratio in PLGA Nanoparticle Stability and Release under Lysosomal Conditions for Enzyme Replacement Therapy of Lysosomal Storage Disorders. [PDF]

J Funct Biomater, 2023
Del Moral M, Loeck M, Muntimadugu E, Vives G, Pham V, Pfeifer P, Battaglia G, Muro S.   +7 more
europepmc   +1 more source

VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients

Movement Disorders, EarlyView.
Abstract Background Membrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane‐residing, bridge‐like protein connecting two membranes to enable bulk lipid transfer. Loss‐of‐function mutations in the VPS13A gene cause VPS13A disease.
Dajana Grossmann, Adrian Spranger, Emily Fischer, Johanna W. Schubarth, Jenny Leopold, Hannes Glaß, Sebastian Klicker, My Uyen Dang Thi, Anna Elisabeth Bartalis, Andreas Hermann, Kevin Peikert   +10 more
wiley   +1 more source

CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9. [PDF]

Cells
Leal AF, Prieto LE, Pachajoa H.
europepmc   +1 more source