detection of pathogenic variants in the GLA gene, accompanied with or without relevant clinical symptoms of Fabry disease, such as peripheral neuropathic pain, hypohidrosis or anhidrosis, cutaneous angioceratoma, corneal turbidiform opacities, hearing loss, renal involvement, and cardiac hypertrophy. ...
protonated, and non-charged form, which is pH-dependent. This is also reflected in the transport reactions of most metabolic models. Nonetheless, this long-standing paradigm is currently under debate since it has been shown to contradict numerous experimental findings...
PASC is a less structured form of cellulose than BC, resulting in faster initial hydrolysis and a further extent of cellulose conversion after five days (Figure 6A,B). Figure 6 shows that Cel7A is more active on both forms of cellulose compared to rCel7A, achieving higher rates and extents...
Patients with the rapidly progressing form were frequently reported to die from heart failure in the 2nd or 3rd decades [21]. From the cross-sectional survey [14], one can deduce that the higher the uGAG, the faster is the rate of clinical development. Growth often slows after the first ...
[89]), and is predicted to form an alpha helix/beta strand/alpha helix/beta strand/alpha helix structure (Additional file13C). The RWA domain has some structural similarity to the UBCc domain [90], further providing a link between the Clade 6A proteins and Ub. The RWA domain is thought...
a name was produced by adding a suffix of the form "-FXX", where XX is a sequential number of the paralogue, to the name of the closest human homologue. Predicted CTLDcps that do not have homologues among the known CTLDcps have identifiers of the form ANZ000. A few of these novel ...
[99] have shown that increased syntactic ability is correlated with increased specialization of the inferior frontal gyrus in the left hemisphere. This region is one of a number of cortical areas critical for the processing of syntax, connected by white matter pathways in the form of dorsal and...
Analysis of differentially expressed genes The RNA samples in this study were isolated at two time points: The first time point was 20 days after sowing, when wild-type plants did not yet form any inflorescence stem butpoco1plants already had (comparison 1: pre-inflorescence-inflorescence). ...
(usually leucines) and that forms a β-strand and a C-terminal stretch of 10–19 amino acids that is more variable in length, sequence and structure. The arrangement of multiple repeats in tandem generates a horseshoe-shaped solenoidal structure, with the β-strands stacking to form the ...
PASC is a less structured form of cellulose than BC, resulting in faster initial hydrolysis and a further extent of cellulose conversion after five days (Figure 6A,B). Figure 6 shows that Cel7A is more active on both forms of cellulose compared to rCel7A, ...