Results 111 to 120 of about 21,042 (237)

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

ChemBioChem, EarlyView.
An N‐galactosyl aziridine is found to have μM range mixed inhibition constants (Ki and Ki’) 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. In the present study, the stereoselective synthesis of a novel N‐galactosyl
Aaron McCormack, Ronan Gavin, Mikael Bols, Paul V. Murphy   +3 more
wiley   +1 more source

CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

, 2012
Pericles Calias, Mikhail Papisov, Jing Pan, Nancy Savioli, Vasily Belov, Yan Huang, Jason Lotterhand, Mary Alessandrini, Nan Liu, Alan J. Fischman, Jan Powell, Michael W. Heartlein   +11 more
openalex   +2 more sources

PRM69 - AN INCREASE OVER TIME IN PUBLISHED REAL-WORLD AND HEALTH ECONOMIC EVIDENCE IN CLINICAL JOURNALS ACROSS LYSOSOMAL STORAGE DISORDERS [PDF]

, 2018
Rosalie Gadiot, M. Friedman, TE Hartog, Yihong Huang, Liina Nevalaita, TP Rouwette, Stefaan Sansen, P Vincendon   +7 more
openalex   +1 more source

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

Recent Advances of In Situ Anticancer Nanomedicine from Enzyme‐Instructed Self‐Assembly

ChemNanoMat, EarlyView.
This review summarizes advances in enzymatic self‐assemblies for generating in situ anticancer nanomedicine over the past five years. It highlights the unique features of enzyme substrates for in situ anticancer nanomedicine by discussing the representative examples.
Linrui Zou, Meihui Yi, Bing Xu
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C. [PDF]

Cell Death Dis, 2020
Lee SE, Shin N, Kook MG, Kong D, Kim NG, Choi SW, Kang KS.   +6 more
europepmc   +1 more source

mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy [PDF]

, 2017
Rosa Bartolomeo, Laura Cinque, Chiara De Leonibus, Alison Forrester, Anna Chiara Salzano, Jlenia Monfregola, Emanuela De Gennaro, Edoardo Nusco, Isabella Azario, Carmela Lanzara, Marta Serafini, Beth Levine, Andrea Ballabio, Carmine Settembre   +13 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders [PDF]

Elena Urizar, Éamon P McCarron, Chaitanya Gadepalli, Andrew Bentley, Peter Woolfson, Siying Lin, Christos Iosifidis, Andrew C. Browning, John Bassett, Udara D. Senarathne, Neluwa-Liyanage R. Indika, Heather J. Church, James A. Cooper, Jorge Menendez Lorenzo, Maria Elena Farrugia, Simon A. Jones, Graeme C. Black, Karolina M. Stępień   +17 more
openalex   +1 more source