Results 41 to 50 of about 56,286 (316)

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +2 more sources

Role of lysosomes in physiological activities, diseases, and therapy

Journal of Hematology & Oncology, 2021
Long known as digestive organelles, lysosomes have now emerged as multifaceted centers responsible for degradation, nutrient sensing, and immunity. Growing evidence also implicates role of lysosome-related mechanisms in pathologic process. In this review,
Ziqi Zhang, Pengfei Yue, Tianqi Lu, Yang Wang, Yuquan Wei, Xiawei Wei   +5 more
doaj   +1 more source

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

Biomolecules, 2021
Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to ...
Enrico Moro
doaj   +1 more source

A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]

, 2019
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna, Clark, Matthew, Doherty, Kathleen, Duis, Jessica, Frazier, S. Barron, Pruthi, Sumit, Wenger, David A.   +6 more
core   +2 more sources

Gene Therapy for Lysosomal Storage Disorders

Journal of Inborn Errors of Metabolism and Screening, 2017
Lysosomal storage disorders (LSDs) are a group of diseases with multisystemic features. Current treatments have limitations and gene therapy arises as a promising treatment option. Here, we discuss some of the most recent studies for gene therapy in LSD,
Esteban Alberto Gonzalez MSc, Guilherme Baldo PhD   +1 more
doaj   +1 more source

Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

Orphanet Journal of Rare Diseases
Background Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue.
Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami   +6 more
doaj   +1 more source

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source

Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications

Frontiers in Cardiovascular Medicine
Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. This leads to the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), culminating in various clinical signs and symptoms ...
Hibba Kurdi, Hibba Kurdi, Lucia Lavalle, Lucia Lavalle, James C. C. Moon, James C. C. Moon, Derralynn Hughes, Derralynn Hughes   +7 more
doaj   +1 more source

Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
doaj   +1 more source

Patatin‐domain‐containing (phospho)lipases under control: Mammalian co‐regulators and pathogenic activation mechanisms

FEBS Open Bio, EarlyView.
Patatin domain‐containing (phospho)lipases are lipid‐hydrolyzing enzymes central to metabolism, membrane remodeling, and signaling. Their activity relies on precise co‐activation mechanisms involving protein–protein interactions and conformational rearrangements.
Noopur Dubey, Lina Riegler‐Berket, Monika Oberer   +2 more
wiley   +1 more source