Results 61 to 70 of about 1,188 (166)

Synthesis of an N‐Galactosyl Norbornane Aziridine and its Potent Mixed Inhibition of Aspergillus oryzae β‐Galactosidase

ChemBioChem, Volume 26, Issue 23, November 27, 2025.
An N‐galactosyl aziridine is found to have μM range mixed inhibition constants (K i and K i’) for a fungal β‐galactosidase. Aziridine‐bearing cyclic polyols are established as irreversible covalent inhibitors of glycosyl hydrolases and have been employed as activity‐based probes.
Aaron McCormack, Ronan Gavin, Mikael Bols, Paul V. Murphy   +3 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]

Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...

core   +2 more sources

Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency [PDF]

, 2000
We have investigated the mRNA amounts of six lysosomal proteins (β-hexosaminidase α- and β-subunit, sphingolipid activator protein precursor, GM2 activator protein, lysosomal sialidase, β-glucocerebrosidase) involved in the degradation of ...
Sandhoff, Konrad, Astrid Potratz, Proia, Richard L., Konrad Sandhoff, Kunihiko Suzuki, Bierfreund, Uwe, Suzuki, Kunihiko, Uwe Bierfreund, Potratz, Astrid, Hüttler, Silke, Silke Hüttler, Richard L. Proia   +11 more
core   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.

PURPOSE: To evaluate efficacy and safety of venglustat for GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) and cognate diseases. METHODS: The AMETHIST phase 3, randomized, double-blind, placebo-controlled study evaluated oral venglustat (N = 40) vs ...

core   +2 more sources

Lysosphingolipid Quantitation in Plasma and Dried‐Blood Spots Using Targeted High‐Resolution Mass Spectrometry

Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.
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.
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, Thomas Plichet, Carine Pilon, Olivier Lidove, Fréderic Barbey, Régine Perrichot, Sabrina Vergnaud, Marc G. Berger, Juliette Berger, Nadia Belmatoug, Yann Nadjar, Foudil Lamari, Esther Noel, Stéphane Marret, Soumeya Bekri, Abdellah Tebani   +17 more
wiley   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro, Makiko Yasuda, Edward H. Schuchman   +2 more
wiley   +1 more source

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 327-339, March 2024.
Abstract Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients.
Jitka Májovská, Igor Nestrašil, Alia Ahmed, Monica T. Bondy, Jiří Klempíř, Helena Jahnová, Susanne A. Schneider, Dana Horáková, Jan Krásenský, Pavel Ješina, Manuela Vaneckova, David R. Nascene, Chester B. Whitley, Jeanine R. Jarnes, Martin Magner, Petr Dušek   +15 more
wiley   +1 more source