Results 1 to 10 of about 6,268,347 (286)

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   +4 more sources

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

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

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

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   +3 more sources

Niemann Pick disease: a rare lysosomal storage disease [PDF]

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu, Sk Serjina Anwar, Noor A Sabah Liza, Syeda Tabassum Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus   +8 more
doaj   +2 more sources

Lipid Structure Matters in Lysosomal Storage Disease [PDF]

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

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease. [PDF]

Mol Ther, 2020
Monaco A, Maffia V, Sorrentino NC, Sambri I, Ezhova Y, Giuliano T, Cacace V, Nusco E, De Risi M, De Leonibus E, Schrader T, Klärner FG, Bitan G, Fraldi A.   +13 more
europepmc   +2 more sources

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Molecular Genetics and Metabolism Reports, 2020
Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we
Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani   +6 more
doaj   +1 more source

New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy

Orphanet Journal of Rare Diseases, 2021
Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman, Maria D. Ledesma, Calogera M. Simonaro   +2 more
doaj   +1 more source

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]

Romanian Journal of Pediatrics, 2017
Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj   +1 more source