Results 21 to 30 of about 90,357 (220)

Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

Journal of Extracellular Vesicles, 2021
In the present study the use of extracellular vesicles (EVs) as vehicles for therapeutic enzymes in lysosomal storage disorders was explored. EVs were isolated from mammalian cells overexpressing alpha‐galactosidase A (GLA) or N‐sulfoglucosamine ...
Joaquín Seras-Franzoso, Z. V. Díaz-Riascos, J. Corchero, Patricia González, N. García-Aranda, Mònica Mandaña, R. Riera, A. Boullosa, S. Mancilla, Alba Grayston, Marc Moltó-Abad, E. Garcia-Fruitós, Rosa Mendoza, G. Pintos-Morell, L. Albertazzi, A. Rosell, J. Casas, A. Villaverde, S. Schwartz, I. Abasolo   +19 more
semanticscholar   +1 more source

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami   +9 more
doaj   +1 more source

D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders. [PDF]

Mol Psychiatry
De Risi M, Cusimano L, Bujanda Cundin X, Pizzo M, Gigante Y, Monaco M, Di Eugenio C, De Leonibus E.   +7 more
europepmc   +2 more sources

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

Nature Communications, 2021
Lysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders,
M. De Risi, Michele Tufano, F. Alvino, M. Ferraro, Giulia Torromino, Y. Gigante, J. Monfregola, E. Marrocco, Salvatore Pulcrano, Lea Tunisi, Claudia Lubrano, D. Papy-Garcia, Yaakov Tuchman, A. Salleo, F. Santoro, G. Bellenchi, L. Cristino, A. Ballabio, A. Fraldi, E. De Leonibus   +19 more
semanticscholar   +1 more source

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Therapeutic Approaches in Lysosomal Storage Diseases

Biomolecules, 2021
Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism.
Carlos Fernández-Pereira, Beatriz San Millán-Tejado, María Gallardo-Gómez, Tania Pérez-Márquez, Marta Alves-Villar, Cristina Melcón-Crespo, Julián Fernández-Martín, Saida Ortolano   +7 more
doaj   +1 more source

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Molecular Genetics and Metabolism Reports, 2020
Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães.
Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha   +12 more
doaj   +1 more source

Interstitial lung disease in lysosomal storage disorders

European Respiratory Review, 2021
Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal ...
Raphaël Borie, B. Crestani, A. Guyard, O. Lidove   +3 more
semanticscholar   +1 more source

ARE ENZYME REPLACEMENT THERAPIES EFFECTIVE AGAINST LYSOSOMAL STORAGE DISORDERS?

Gomal Journal of Medical Sciences, 2021
Lysosomal storage disorders are an agglomeration of genetic disorders such as Fabry disease, Gaucher disease, Pompe disease, Krabbe’s disease and mucopolysaccharidosis that typically impairs the prime orangs of humans, including brain, heart ...
Taimoor Hassan, Xu Huadong
doaj   +1 more source

Pregnancy Outcomes in Late Onset Pompe Disease

Life, 2020
There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function ...
Ozlem Goker-Alpan, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, Priya S. Kishnani   +7 more
doaj   +1 more source