Results 1 to 10 of about 37,425 (94)

Therapeutic Approaches in Lysosomal Storage Diseases. [PDF]

Biomolecules, 2021
Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism.
Fernández-Pereira C, San Millán-Tejado B, Gallardo-Gómez M, Pérez-Márquez T, Alves-Villar M, Melcón-Crespo C, Fernández-Martín J, Ortolano S.   +7 more
europepmc   +2 more sources

Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases. [PDF]

Biomedicines, 2023
Lysosomal storage diseases are a group of rare and ultra-rare genetic disorders caused by defects in specific genes that result in the accumulation of toxic substances in the lysosome.
Pandey MK.
europepmc   +2 more sources

Oncological Aspects of Lysosomal Storage Diseases. [PDF]

Cells
Lysosomal storage diseases (LSDs) are caused by the deficient activity of a lysosomal hydrolase or the lack of a functional membrane protein, transporter, activator, or other protein.
Ługowska A.
europepmc   +2 more sources

Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies. [PDF]

Biomedicines, 2022
Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inborn mutations of lysosomal enzymes, which lead to lysosome substrate accumulation in various cell types [...]
De Pasquale V, Scarcella M, Pavone LM.
europepmc   +2 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. [PDF]

Egypt J Med Hum Genet, 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.
El-Amawy HS, Dawoud H.
europepmc   +2 more sources

Adults with lysosomal storage diseases in the undiagnosed diseases network. [PDF]

Mol Genet Genomic Med, 2022
Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN).
Xiao C, Koziura M, Cope H, Spillman R, Tan K, Hisama FM, Tifft CJ, Toro C.   +7 more
europepmc   +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   +1 more source

Lysosomal positioning diseases: beyond substrate storage

Open Biology, 2022
Lysosomal storage diseases (LSDs) comprise a group of inherited monogenic disorders characterized by lysosomal dysfunctions due to undegraded substrate accumulation.
Gianluca Scerra, Valeria De Pasquale, Melania Scarcella, Maria Gabriella Caporaso, Luigi Michele Pavone, Massimo D'Agostino   +5 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

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Orphanet Journal of Rare Diseases, 2020
Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase.
Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan   +5 more
doaj   +1 more source