Results 91 to 100 of about 2,604,703 (185)

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder. [PDF]

J Inherit Metab Dis, 2022
Hassall S, Smith DM, Rust S, Wittkowski A.   +3 more
europepmc   +1 more source

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation. [PDF]

Mol Ther, 2022
Ahrens-Nicklas RC, Tecedor L, Hall AF, Kane O, Chung RJ, Lysenko E, Marsh ED, Stein CS, Davidson BL.   +8 more
europepmc   +1 more source

The Neuroimmune Landscape of the Lysosomal Storage Disorder Sanfilippo Syndrome [PDF]

Lysosomal storage disorders (LSDs) such as Sanfilippo syndrome (Mucopolysaccharidosis type III) are characterized by impaired lysosomal degradation due to inherited in lysosomal proteins.
Schlachetzki, Johannes CM, Badell‐Grau, Rafael A   +1 more
core   +1 more source

MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis

Expert Reviews in Molecular Medicine
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and ...
Yuwen Han, Yuanshuai Zhou, Jinlin Pan, Minxuan Sun, Jiao Yang   +4 more
doaj   +1 more source

Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal. [PDF]

Mol Ther Methods Clin Dev, 2021
Marcó S, Haurigot V, Jaén ML, Ribera A, Sánchez V, Molas M, Garcia M, León X, Roca C, Sánchez X, Bertolin J, Pérez J, Elias G, Navarro M, Carretero A, Pumarola M, Andaluz A, Espada Y, Añor S, Bosch F.   +19 more
europepmc   +1 more source

Epidemiology of lysosomal storage diseases in Sweden

, 2014
There are more than 50 inherited lysosomal storage diseases (LSDs), and this study examined the incidence of clinically diagnosed LSDs in ...
Malin Hult, von Döbeln, Ulrika, Ulrika von Döbeln, Darin, Niklas,, Niklas Darin, Jan‐Eric Månsson, Hult, Malin,, Månsson, Jan-Eric,, von, Dobeln U, Hult, M, Mansson, J-E, Darin, N   +11 more
core   +1 more source

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare
Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, sialin.
Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan   +8 more
doaj   +1 more source

Altered cerebellar granule cell differentiation and synapse maturation in a mouse model of a lysosomal lipid storage disease.

, 2020
The rare Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder, caused by mutations in the Npc1 gene. Since the encoded protein mediates the outflow of cholesterol from endosomal-lysosomal compartments, these mutations cause ...
Sonia Canterini, Serena Camuso, Micaela Lucarelli, Alessandro Rava, Lucy Babicola, Fiorenza Maria Teresa   +5 more
core  

Induced pluripotent stem cell models of lysosomal storage disorders

, 2017
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology.
Tamanna Roshan Lal, Elma Aflaki, Jenny Serra-Vinardell, Daniel K. Borger, Ellen Sidransky, Benjamin McMahon   +5 more
core   +1 more source

Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice

Cell Death Discovery
Mucopolysaccharidosis IIIB (MPS IIIB) is a metabolic neurodegenerative disorder caused by a deficiency of the lysosomal enzyme α-N-acetylglucosaminidase (NAGLU), which is involved in the degradation of heparan sulfate (HS).
Serenella Anzilotti, Melania Scarcella, Mariangela Ciampa, Noemi Di Muraglia, Camilla Anastasio, Chiara Fiorentino, Federica Rossin, Luigi Avallone, Giuseppe Pignataro, Luigi Michele Pavone, Valeria De Pasquale   +10 more
doaj   +1 more source