Results 121 to 130 of about 58,222 (243)

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders [PDF]

, 2019
Diana Rojas Málaga, Ana Carolina Brusius‐Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva Pereira, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Úrsula da Silveira Matte, Roberto Giugliani   +8 more
openalex   +1 more source

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation [PDF]

, 2018
Maria Teresa Fiorenza, Enrico Moro, Robert P. Erickson   +2 more
openalex   +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

Elevated plasma chitotriosidase activity in various lysosomal storage disorders

, 1995
Yufeng Guo, He Wang, A. M. Boer, Ron A. Wevers, A M de Bruijn, J.E.M. Groener, Carla E. M. Hollak, Johannes M. F. G. Aerts, H. Galjaard, O. P. van Diggelen   +9 more
openalex   +2 more sources

Heterocyclic sterol probes for live monitoring of sterol trafficking and lysosomal storage disorders [PDF]

, 2018
Jarmila Králová, Michal Jurášek, Lucie Krčová, Bohumil Dolenský, I. Νovotný, Michal Dušek, Zdeňka Rottnerová, Michal Kahle, Pavel Drašar, Petr Bartůněk, Vladimı́r Král   +10 more
openalex   +1 more source

Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2018
A. Banning, M. Schiff, R. Tikkanen
semanticscholar   +1 more source

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

Journal of Human Genetics, 2016
Xueru Chen, W. Qiu, Jun Ye, L. Han, Xuefan Gu, Huiwen Zhang   +5 more
semanticscholar   +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

'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, Q. Teunissen, Frits A. Wijburg, Gabor E. Linthorst   +3 more
openalex   +1 more source