Results 11 to 20 of about 90,357 (220)

Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease. [PDF]

Cells, 2023
LeVine SM.
europepmc   +3 more sources

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders [PDF]

Genes (Basel)
Urizar E, McCarron E, Gadepalli C, Bentley A, Woolfson P, Lin S, Iosifidis C, Browning A, Bassett J, Senarathne U, Indika N, Church H, Cooper J, Menendez Lorenzo J, Farrugia M, Jones S, Black G, Stepien K.   +17 more
europepmc   +3 more sources

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020. [PDF]

Lancet Reg Health West Pac, 2022
Chin SJ, Fuller M.
europepmc   +2 more sources

Unsheathing new insights into lysosomal storage disorders

Disease Models & Mechanisms, 2023
Kirsty M. Hooper
doaj   +2 more sources

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation. [PDF]

Human Molecular Genetics, 2018
M. Fiorenza, E. Moro, R. Erickson
semanticscholar   +2 more sources

Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B. [PDF]

, 2011
Sanfilippo syndrome type B (MPS IIIB) is characterized by profound mental retardation in childhood, dementia and death in late adolescence; it is caused by deficiency of α-N-acetylglucosaminidase and resulting lysosomal storage of heparan sulfate.
Neufeld, Elizabeth F, Ohmi, Kazuhiro, Zhao, Hui-Zhi   +2 more
core   +15 more sources

Lysosomal storage diseases [PDF]

Journal of Veterinary and Animal Sciences, 2021
Lysosomes play a pivotal role in cellular processes through an active interplay of enzymes, lysosomal membrane proteins, and cytosolic proteins. Lysosomal storage diseases are a group of inherited and acquired disorders.
Smitha Rose Georgy
doaj   +1 more source

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, 2023
Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins.
S. Ellison, H. Parker, B. Bigger
semanticscholar   +1 more source

mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. [PDF]

Journal of Clinical Investigation, 2017
Rosa Bartolomeo, Laura Cinque, Chiara De Leonibus, A. Forrester, Anna Chiara Salzano, J. Monfregola, Emanuela De Gennaro, E. Nusco, I. Azario, Carmela Lanzara, M. Serafini, B. Levine, A. Ballabio, C. Settembre   +13 more
semanticscholar   +2 more sources

Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development

Biomolecules, 2021
Rare monogenic disorders such as lysosomal diseases have been at the forefront in the development of novel treatments where therapeutic options are either limited or unavailable.
G. Massaro, A. Geard, Wenfei Liu, Oliver Coombe-Tennant, S. Waddington, J. Baruteau, P. Gissen, A. Rahim   +7 more
semanticscholar   +1 more source