Results 21 to 30 of about 58,222 (243)

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

Fig4 deficiency: a newly emerged lysosomal storage disorder? [PDF]

Prog Neurobiol, 2013
Martyn C, Li J.
europepmc   +2 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

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

Orphanet Journal of Rare Diseases, 2022
Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited deficiency of β ...
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka   +8 more
doaj   +1 more source

Immunochemistry of Lysosomal Storage Disorders [PDF]

Clinical Chemistry, 2006
Abstract Background: Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of ...
Parkinson-Lawrence, E., Fuller, M., Hopwood, J., Meikle, P., Brooks, D.   +4 more
openaire   +4 more sources

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship

Egyptian Journal of Medical Human Genetics, 2022
Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Heba Saed El-Amawy, Heba Dawoud
doaj   +1 more source

A Novel Retinal Gene Therapy Strategy for Batten Disease and Beyond

Proceedings, 2020
Batten Disease is a fatal lysosomal storage disorder characterized by cognitive and [...]
Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer   +7 more
doaj   +1 more source

Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria

Nature Communications, 2022
Lipids shed by pathogenic mycobacteria have been shown to inhibit NPC1, a lysosomal membrane protein deficient in most cases of a rate inherited lysosomal storage disorder Niemann-Pick disease type C (NPC).
Yuzhe Weng, Dawn Shepherd, Yi Liu, Nitya Krishnan, Brian D. Robertson, Nick Platt, Gerald Larrouy-Maumus, Frances M. Platt   +7 more
doaj   +1 more source

Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease

Cell Structure and Function, 2023
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B. Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin   +7 more
doaj   +1 more source