Results 51 to 60 of about 15,101 (190)
Glycohydrolases in the central nervous system: the role of GBA2 in the neuronal differentiation [PDF]
SpringerPlus, 2015 Mammalian neurodevelopment is characterized by qualitative and quantitative changes in plasma membrane glycosphingolipids due to a fine regulation of their metabolic pathways. While the biosynthetic pathway is largely studied scant is the information available on the catabolic one.
Maura Samarani +8 more
openalex +3 more sources
Defining the organizational structure of dopamine and muscarninic acetylcholine receptors [PDF]
, 2015 No abstract ...
Alvarez-Curto, Elisa +4 more
core +1 more source
Mfsd14a disruption causes globozoospermia [PDF]
, 2016 The Mfsd14a gene, previously called Hiat1, encodes a transmembrane protein of unknown function with homology to the solute carrier protein family. To study the function of the MFSD14A protein, mutant mice (Mus musculus, strain 129S6Sv/Ev) were generated ...
Colledge, William Henry +5 more
core +2 more sources
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. [PDF]
, 2014 The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the ...
Hensiek, Anke +2 more
core +2 more sources
Synthesis and Application of Bioactive N‐Functionalized Aziridines
Angewandte Chemie, Volume 137, Issue 44, October 27, 2025.This review discusses modern synthetic methods for the preparation of aziridine‐containing small molecules, including biocatalytic, electrocatalytic, and photocatalytic strategies. We highlight the compatibility of various synthetic methods with control of the exocyclic N‐substituent.
Hao Tan +4 more
wiley +2 more sources
Journal of Lipid Research, 2016 The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) and GBA2, located in and outside the lysosome, respectively.
AndréR.A. Marques +26 more
doaj +1 more source
Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease. [PDF]
PLoS ONE, 2011 The neuropathic glycosphingolipidoses are a subgroup of lysosomal storage disorders for which there are no effective therapies. A potential approach is substrate reduction therapy using inhibitors of glucosylceramide synthase (GCS) to decrease the ...
Karen M Ashe +12 more
doaj +1 more source
Journal of Lipid Research, 2021 : Deficiency of glucocerebrosidase (GBA), a lysosomal β-glucosidase, causes Gaucher disease. The enzyme hydrolyzes β-glucosidic substrates and transglucosylates cholesterol to cholesterol-β-glucoside.
Daphne E. Boer +15 more
doaj +1 more source
Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]
J Inherit Metab DisAbstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Ludlaim AM, Waddington SN, McKay TR.
europepmc +2 more sources
Spectral analysis and slow spreading dynamics on complex networks [PDF]
, 2013 The susceptible-infected-susceptible (SIS) model is one of the simplest memoryless systems for describing information or epidemic spreading phenomena with competing creation and spontaneous annihilation reactions.
A. Barrat +9 more
core +2 more sources