Synthetic Strategy towards a Carbocyclic N‐Acetylneuraminic Acid
A novel route towards a carbocyclic N‐acetylneuraminic acid mimic is presented. Although the route ran into difficulties in the final stage, it can still act as a useful guide towards future carbocyclic activity‐based probes for sialidases. Abstract In the study of glycosidases, a class of activity‐based probes (ABPs), that are carbocyclic mimics of ...
Pieter de Saint Aulaire +4 more
wiley +1 more source
Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre
Abstract GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder.
Kai‐Yue Zhang +6 more
wiley +1 more source
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili +7 more
doaj +1 more source
GNE myopathy: History, etiology, and treatment trials
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Jeffrey Mullen +4 more
doaj +1 more source
Description of Nuclear Structure Effects in Subbarrier Fusion by the Interacting Boson Model [PDF]
Recent theoretical developments in using the Interacting Boson Model to describe nuclear structure effects in fusion reactions below the Coulomb barrier are reviewed. Methods dealing with linear and all orders coupling between the nuclear excitations and
A B Balantekin +10 more
core +2 more sources
Probing anharmonic properties of nuclear surface vibration by heavy-ion fusion reactions [PDF]
Describing fusion reactions between ^{16}O and ^{154}Dy and, between ^{16}O and ^{144}Sm by the $sd-$ and $sdf-$ interacting boson model, we show that heavy-ion fusion reactions are strongly affected by anharmonic properties of nuclear surface vibrations
Balantekin A B +12 more
core +2 more sources
SU(3) realization of the rigid asymmetric rotor within the IBM [PDF]
It is shown that the spectrum of the asymmetric rotor can be realized quantum mechanically in terms of a system of interacting bosons. This is achieved in the SU(3) limit of the interacting boson model by considering higher-order interactions between the
A. Arima +38 more
core +5 more sources
Partial Dynamical Symmetry in the Symplectic Shell Model [PDF]
We present an example of a partial dynamical symmetry (PDS) in an interacting fermion system and demonstrate the close relationship of the associated Hamiltonians with a realistic quadrupole-quadrupole interaction, thus shedding new light on this ...
A. Arima +59 more
core +2 more sources
Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]
Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito +7 more
doaj +1 more source
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is a moderately progressive hereditary muscle disorder affecting young adults.
May Christine V. Malicdan +2 more
doaj +1 more source

