Results 71 to 80 of about 2,604,703 (185)

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Pediatrics and Neonatology, 2013
Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok   +7 more
doaj   +1 more source

Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]

, 2013
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger, Paola Luzi, Mohammad A. Rafi   +2 more
core   +1 more source

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +1 more source

Rapid Multisystem Deterioration After Enzyme Replacement Therapy Discontinuation in Fabry Disease: A Familial Case Series with Kidney Transplantation

Turkish Journal of Nephrology
Fabry disease (FD) is an X-linked lysosomal storage disorder with progressive kidney cardiac, and neurological involvement. Enzyme replacement therapy (ERT) remains the cornerstone of management; however, the clinical consequences of treatment ...
Erdem Baran
doaj   +1 more source

Therapeutic applications of imino sugars in lysosomal storage disorders.

, 2016
The N-alkylated imino sugars have inhibitory activity against the first enzyme in the pathway for glucosylating sphingolipid in eukaryotic cells, ceramide-specific glucosyltransferase.

core   +1 more source

Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells [PDF]

, 2019
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder (LSD), caused by iduronate 2-sulphatase (IDS) enzyme dysfunction. The neuropathology of the disease is not well understood, although the neural symptoms are currently incurable.
Nakanishi, H., Laszlo, L., Lo Giudice, Maria, László, L, Pijnappel, WWM Pim, Varga, Norbert, Kobolák, J, Kitiyanant, N, Hyttel, Poul, Bock, István, Jezsó, B, Hyttel, P., Zhou, S, Pijnappel, Pim, Jerso, B., Zhou, SL, Téglási, A, Varga, Eszter, Jerso, B, Pijnappel, WWM P, Dinnyés, A, Pijnappel, W., Dinnyés, András, Varga, N., Freude, K., Freude, K, Hyttel, P, Westerveld, M. (Michael), Phanthong, P., Nakanishi, H, Molnar, K., Dinnyes, A., Nakanishi, Hideyuki, Lo Giudice, M, Bock, I., Bock, I, Kobolák, Julianna, Hoogeveen-Westerveld, M, Hoogeveen - Westerveld, Marianne, Kitiyanant, Narisorn, Varga, E, Freude, Kristine, Phanthong, Phetcharat, Kitiyanant, N., Varga, N, Varga, E. (Endre), Teglasi, A., Jezsó, Bálint, Molnár, Kinga, Molnár, K, László, Lajos, Kobolak, J., Zhou, Shuling, Phanthong, P, Lo Giudice, M., Hoogeveen-Westerveld, Marianne, Zhou, S.L., Téglási, Annamária   +57 more
core   +1 more source

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lipids in Health and Disease, 2006
Summary Background Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide.
De Deyn PP, D'Hooge R, Mansson JE, Wittke D, Franken S, Lüllmann-Rauch R, Matzner U, Gieselmann V   +7 more
doaj   +1 more source