Results 81 to 90 of about 45,438 (256)
Optimization of CEST MRI Reporter Protein Design Using Cation‐Pi Networks
Chemistry – A European Journal, EarlyView.A novel engineering approach can produce reporter proteins for cell and viral therapy tracking with unique magnetic resonance imaging (MRI) signatures, detectable with chemical exchange saturation transfer (CEST). We discover how cation‐π interactions between amino acid groups can help us fine‐tune magnetic resonance properties for noninvasive ...
David E. Korenchan +8 more
wiley +1 more source
Novel capillary defects in spinal muscular atrophy [PDF]
, 2015 Spinal Muscular Atrophy (SMA) is an autosomal, recessive form of childhood motor neuron disease and the most common genetic cause of infant mortality in the western world.
Somers, Eilidh
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Protocol for Reconstituting Adaptor‐Mediated Activation of Full‐Length Kinesin‐1
Cytoskeleton, EarlyView.ABSTRACT Kinesin‐1 is a member of the kinesin superfamily that plays an essential role in intracellular cargo transport. In the absence of cargo, Kinesin‐1 exhibits low motor activity due to autoinhibition. Multiple studies have demonstrated that adaptor proteins, which link cargos to Kinesin‐1, can activate Kinesin‐1 by releasing the autoinhibition ...
Haruka Masumoto, Kyoko Chiba
wiley +1 more source
Synaptic vulnerability in spinal muscular atrophy [PDF]
, 2010 Mounting evidence suggests that synaptic connections are early pathological targets in many neurodegenerative diseases, including motor neuron disease. A better understanding of synaptic pathology is therefore likely to be critical in order to develop
Murray, Lyndsay M.
core
, 2018 Detailed proteomics data files from Shorrock et al., 2018 'UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy' (Accepted manuscript to be published in Brain)
Gillingwater, TH
core +1 more source
Developmental Dynamics, EarlyView.Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy.
, 2007 Two female patients with clinical features resembling spinal muscular atrophy were presented. Patient 1 presented with hypotonia and proximal weakness of extremities at age 4 months.
Ryu, KH +4 more
core +1 more source
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective Anorexia nervosa (AN) is a serious illness in which more than half of all deaths are due to malnutrition. Critically low energy and protein intake are known causes of massive weight loss, whereas micronutrient deficiencies due to a low‐calorie food pattern remain poorly characterized in children with AN. Micronutrient deficiencies in
Zenaida Iordan +6 more
wiley +1 more source
Feasibility of combined treatment for type III spinal muscular atrophy: a pilot study
, 2017 Nataliia Sych, 1 Mariya Klunnyk,1 Iryna Matiyashchuk,1 Mariya Demchuk,1 Olena Ivankova,1 Andriy Sinelnyk,1 Khrystyna Sorochynska,2 Marina Skalozub3 1Clinical Department, 2Stem Cells Bank, 3Laboratory and Biotechnology Department, Cell Therapy Center ...
Sych N +7 more
core
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source