Results 1 to 10 of about 21,875 (148)

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder [PDF]

Biomolecules, 2020
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
doaj   +4 more sources

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder [PDF]

Case Reports in Genetics, 2019
Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed.
Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra   +6 more
doaj   +2 more sources

SNX8 enables lysosome reformation and reverses lysosomal storage disorder [PDF]

Nature Communications
Lysosomal Storage Disorders (LSDs), which share common phenotypes, including enlarged lysosomes and defective lysosomal storage, are caused by mutations in lysosome-related genes.
Xinran Li, Cong Xiang, Shilei Zhu, Jiansheng Guo, Chang Liu, Ailian Wang, Jin Cao, Yan Lu, Dante Neculai, Pinglong Xu, Xin-Hua Feng   +10 more
doaj   +2 more sources

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz   +7 more
doaj   +2 more sources

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation [PDF]

Molecular Therapy, 2022
Rebecca C Ahrens-Nicklas, Luis Tecedor, Arron F Hall   +2 more
exaly   +2 more sources

Lysosomal storage disorders [PDF]

British Journal of Haematology, 2005
SummaryAlthough the first description of a lysosomal storage disorder was that of Tay‐Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. The first demonstration by Hers in 1963 of a link between an enzyme deficiency and a storage disorder (Pompe's disease) paved the way for a series of seminal discoveries about the
Gregory M. Enns, Robert D. Steiner
  +5 more sources

Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder [PDF]

Journal of Radiology Case Reports, 2015
John Naheedy
exaly   +2 more sources

Lysosomal storage disorders [PDF]

Nature, 2016
Lysosomal storage disorders are characterized by the presence of nondegraded material in endosomal / lysosomal compartments. Any process that interferes with the lysosomal degradation or endosomal / lysosomal transport of molecules can give rise to storage. The cause may be genetic in nature or environmental, as is the case in drug-induced lipidoses or
  +6 more sources

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

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   +1 more source