Results 11 to 20 of about 929 (148)

A historical perspective of the glycosphingolipids and sphingolipidoses [PDF]

Philosophical Transactions of the Royal Society B: Biological Sciences, 2003
Glycosphingolipids are a polysaccharide chain between 1 and 40 carbohydrate residues long glycosidically linked to ceramide (a long–chain aliphatic amino–alcohol or sphingoid) that is embedded in the cell plasma membrane with the carbohydrate moiety on the outside.
exaly   +3 more sources

Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry. [PDF]

J Clin Lab Anal
Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Ducatez F, Mauhin W, Ottaviani J, Plichet T, Pilon C, Lidove O, Barbey F, Perrichot R, Vergnaud S, Berger MG, Berger J, Belmatoug N, Nadjar Y, Lamari F, Noel E, Marret S, Bekri S, Tebani A.   +17 more
europepmc   +2 more sources

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis. [PDF]

Clin Transl Sci
ABSTRACT GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β‐galactosidase enzyme activity and lead to the accumulation of glycoconjugates such as ...
Stern S, Crisamore K, Li RJ, Pacanowski M, Schuck R.   +4 more
europepmc   +2 more sources

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders. [PDF]

J Inherit Metab Dis
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Lorino M, Qiu B, Bigger B.
europepmc   +2 more sources

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses

Cells, 2020
(1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer   +6 more
doaj   +1 more source

A Modular Approach to the Antifungal Sphingofungin Family: Concise Total Synthesis of Sphingofungin A and C

Angewandte Chemie, Volume 134, Issue 5, January 26, 2022., 2022
A short and flexible total synthesis of antifungal and antiparasitic sphingofungins A–D and congeners was developed by combining a versatile decarboxylative coupling reaction and a cross metathesis protocol. Abstract Sphingofungins are fungal natural products known to inhibit the biosynthesis of sphingolipids which play pivotal roles in various cell ...
Luka Raguž, Chia‐Chi Peng, Marcel Kaiser, Helmar Görls, Christine Beemelmanns   +4 more
wiley   +2 more sources

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023
Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter   +6 more
wiley   +1 more source

Central Retinal Artery Occlusion with Concomitant Intracranial Hemorrhage Secondary to Streptococcus Gordonii Endocarditis

Case Reports in Ophthalmological Medicine, Volume 2023, Issue 1, 2023., 2023
Purpose. To report a case of central retinal artery occlusion (CRAO) associated with subacute Streptococcus gordonii endocarditis secondary to a dental infection. Observations. A 27‐year‐old male presented with acute monocular vision loss in the setting of a stroke and seizure. A fundus exam revealed macular whitening and a cherry‐red spot.
Harshvardhan Chawla, Jonah S. Goldblatt, John E. Morgan, Bruce A. Barron, Aravinda K. Rao, Maria A. Reinoso, Kamal Kishore   +6 more
wiley   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source