Results 1 to 10 of about 90,357 (220)

The Role of Exosomes in Lysosomal Storage Disorders [PDF]

Biomolecules, 2021
Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason, Elizabeth G. Woo, Cindy McKinney, Ellen Sidransky   +3 more
doaj   +5 more sources

A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders [PDF]

Cells, 2021
Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
doaj   +2 more sources

Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue! [PDF]

Cells, 2022
Lysosomal storage diseases (LSDs) resulting from inherited gene mutations constitute a family of disorders that disturb lysosomal degradative function leading to abnormal storage of macromolecular substrates.
Prat Castro S, Kudrina V, Jaślan D, Böck J, Scotto Rosato A, Grimm C.   +5 more
europepmc   +2 more sources

Impaired autophagy: The collateral damage of lysosomal storage disorders

EBioMedicine, 2021
Lysosomal storage disorders (LSDs), which number over fifty, are monogenically inherited and caused by mutations in genes encoding proteins that are involved in lysosomal function.
Rachel Myerowitz, Rosa Puertollano, Nina Raben   +2 more
doaj   +2 more sources

Lysosomal Storage Disorders and Malignancy [PDF]

Diseases, 2017
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell.
Gregory M. Pastores, Derralynn A. Hughes
doaj   +2 more sources

Newborn Screening for 6 Lysosomal Storage Disorders in China.

JAMA Netw Open
This cohort study investigates prevalence of 6 lysosomal storage disorders and their subclinical forms among newborns in Shanghai, China.
Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H.   +8 more
europepmc   +2 more sources

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders [PDF]

International Journal of Molecular Sciences, 2020
Glycosphingolipids (GSLs) are a specialized class of membrane lipids composed of a ceramide backbone and a carbohydrate-rich head group. GSLs populate lipid rafts of the cell membrane of eukaryotic cells, and serve important cellular functions including ...
Alex E. Ryckman, I. Brockhausen, J. Walia   +2 more
semanticscholar   +2 more sources

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. [PDF]

Int J Neonatal Screen, 2023
Gragnaniello V, Cazzorla C, Gueraldi D, Puma A, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Burlina AP, Burlina AB.   +10 more
europepmc   +3 more sources

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches [PDF]

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   +2 more sources

Newborn Screening for Lysosomal Storage Disorders in Belgium [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2017
Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe ...
Francois Eyskens MD, PhD, Sylvie Devos PhD   +1 more
doaj   +2 more sources