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Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial—Lysosomal Axis [PDF]

Cells, 2021
Lysosomal storage disease (LSD) is an inherited metabolic disorder caused by enzyme deficiency in lysosomes. Some treatments for LSD can slow progression, but there are no effective treatments to restore the pathological phenotype to normal levels ...
Myeong Uk Kuk, Yun Haeng Lee, Jae Won Kim, Su Young Hwang, Joon Tae Park, Sang Chul Park   +5 more
doaj   +3 more sources

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   +3 more sources

Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease [PDF]

Molecular Therapy: Methods & Clinical Development
The lysosomal storage disease alpha-mannosidosis (AMD) is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter, Caitlyn M. Molony, Wojciech K. Panek, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe   +6 more
doaj   +2 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

Lipid Structure Matters in Lysosomal Storage Disease [PDF]

Journal of Lipid Research, 2023
Roger Sandhoff
doaj   +2 more sources

Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study. [PDF]

Front Vet Sci, 2021
Tamura S, Tamura Y, Nakamoto Y, Hasegawa D, Tsuboi M, Uchida K, Yabuki A, Yamato O.   +7 more
europepmc   +2 more sources

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +2 more sources

TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency [PDF]

Scientific Reports
Progranulin is a pro-protein that is necessary for maintaining lysosomal function. Loss-of-function progranulin (GRN) mutations are a dominant cause of frontotemporal dementia (FTD).
Wren O. Nader, Kaylan S. Brown, Nicholas R. Boyle, Azariah K. Kaplelach, Shaimaa M. Abdelaziz, Skylar E. Davis, Qays Aljabi, Ahmad R. Hakim, Amelia G. Davidson, Giacynta A. Vollmer, Leah C. Wright, J. Bailey Echols, Joelle Saad, Nicholas S. Pena, Andrew E. Arrant   +14 more
doaj   +2 more sources

Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?

Molecular Genetics and Metabolism Reports, 2017
Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process.
J. Politei, C. Durand, A.B. Schenone, A. Torres, J. Mukdsi, B.L. Thurberg   +5 more
doaj   +2 more sources

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients. [PDF]

Front Immunol, 2019
Pereira CS, Pérez-Cabezas B, Ribeiro H, Maia ML, Cardoso MT, Dias AF, Azevedo O, Ferreira MF, Garcia P, Rodrigues E, Castro-Chaves P, Martins E, Aguiar P, Pineda M, Amraoui Y, Fecarotta S, Leão-Teles E, Deng S, Savage PB, Macedo MF.   +19 more
europepmc   +2 more sources