Results 21 to 30 of about 40,202 (243)

The emerging role and clinicopathological significance of MFSD12 in cancer and lysosomal storage diseases [PDF]

Frontiers in Pharmacology
MFSD12 protein has recently risen as a key factor in malignancy and plays a potential role in a variety of complex oncogenic signaling cascades. Current studies suggest that MFSD12 has a positive complex role in the growth and progression of tumors such ...
Liqiong Ding
doaj   +2 more sources

Lysosomal Storage Diseases

Journal of Inborn Errors of Metabolism and Screening, 2014
Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules.
Joseph Alroy DVM, DACVP, Jeremiah A. Lyons MVB, PhD, DACVP   +1 more
doaj   +4 more sources

Lysosomes, Lysosomal Storage Diseases, and Inflammation [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2016
Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease.
Calogera M. Simonaro PhD
doaj   +4 more sources

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment [PDF]

Diagnostics
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs).
Patryk Lipiński, Anna Tylki-Szymańska
doaj   +2 more sources

Lysosomal Storage Disease [PDF]

Journal of Nepal Medical Association, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula.
Binod Khatiwada, A Pokharel
openaire   +5 more sources

Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]

BioImpacts, 2013
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger, Paola Luzi, Mohammad A. Rafi   +2 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
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Lysosomal Lipid Storage Diseases [PDF]

Cold Spring Harbor Perspectives in Biology, 2011
Lysosomal lipid storage diseases, or lipidoses, are inherited metabolic disorders in which typically lipids accumulate in cells and tissues. Complex lipids, such as glycosphingolipids, are constitutively degraded within the endolysosomal system by soluble hydrolytic enzymes with the help of lipid binding proteins in a sequential manner.
Schulze, H., Sandhoff, K.
openaire   +2 more sources

A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders

Cells, 2021
Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
doaj   +1 more source