Results 61 to 70 of about 2,486,172 (179)

Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds [PDF]

, 2013
This work was supported by a Wellcome Trust award to TMG.Mucopolysaccharidosis (MPS) I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase (IDUA) (EC 3.2.1.76); enzyme replacement therapy is the conventional treatment for this ...
Brooks, Doug, Gloster, Tracey M., Vocadlo, D.J., Brooks, D., Kolarich, Daniel, Kermode, Allison R, Kermode, Allison R., Haselhorst, T., Qian, Y., Gloster, Tracey M, Qian, Yi, Gloster, Tracey, Kolarich, D., Haselhorst, Thomas, Packer, N.H., Pierce, Owen, He, X., von Itzstein, Mark, Gloster, T.M., Packer, Nicolle H., He, Xu, Pierce, O., Packer, Nicolle H, Vocadlo, David J, von Itzstein, M., Kermode, A.R., Vocadlo, David J.   +26 more
core   +1 more source

Dermatological Characteristics in a Cohort of Patients with Mucopolysaccharidosis from Southwestern Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders characterized by glycosaminoglycan accumulation and multisystem involvement, including underreported dermatological features.
Johan Conquett Huertas, Winnie Celorio, Jose Maria Satizabal, Lina Moreno Giraldo   +3 more
doaj   +2 more sources

Thematic review series: Lipid Posttranslational Modifications. Lysosomal metabolism of lipid-modified proteins

Journal of Lipid Research, 2006
Much is now understood concerning the synthesis of prenylated and palmitoylated proteins, but what is known of their metabolic fate? This review details metabolic pathways for the lysosomal degradation of S-fatty acylated and prenylated proteins. Central
Jui-Yun Lu, Sandra L. Hofmann
doaj   +1 more source

Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation

JCI Insight, 2020
Although congenital heart defects (CHDs) represent the most common birth defect, a comprehensive understanding of disease etiology remains unknown.
Po-Nien Lu, Trevor Moreland, Courtney J. Christian, Troy C. Lund, Richard A. Steet, Heather Flanagan-Steet   +5 more
doaj   +1 more source

A new lysosomal storage disorder resembling Morquio syndrome in sibs

, 2012
International audienceWe report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children
Quoc, Emmanuel Bui, El Ghouzzi, Vincent, Gérard, Marion, Ilharreborde, Brice, Fenneteau, Odile, Passemard, Sandrine, Tabet, Anne-Claude, Froissart, Roseline, Mazda, Keyvan, Verloes, Alain, Perrin, Laurence, Ghoumid, Jamal, Capri, Yline, Caillaud, Catherine, Lebon, Sophie   +14 more
core   +1 more source

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Background Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients
Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds, Tarekegn Geberhiwot   +11 more
doaj   +1 more source

A European Consortium for Lysosomal Storage Diseases

, 2008
Lysosomes are membrane-enclosed compartments, filled with hydrolytic enzymes that are used for the degradation of macromolecules. Proteins and other substrates are delivered to the lysosomes by various pathways including endocytosis, and autophagy, a ...
ANDRIA, GENEROSO
core  

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan   +10 more
doaj   +1 more source

Therapeutic Approaches in Lysosomal Storage Diseases

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

Lysosomal Storage Disease

, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
A Pokharel, Binod Khatiwada
core   +1 more source