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Results: 3

1.
Figure 1

Figure 1. From: The Unstable Repeats - Three Evolving Faces of Neurological Disease.

Pathogenic mechanisms for Fragile X syndrome (FXS), Fragile X tremor-ataxia syndrome (FXTAS) and myotonic dystrophy (DM), and the polyglutamine diseases spinocerebellar ataxia type 1 (SCA1) and spinal bulbar muscular atrophy (SBMA).

David L. Nelson, et al. Neuron. 2013 March 6;77(5):825-843.
2.
Figure 2

Figure 2. From: The Unstable Repeats - Three Evolving Faces of Neurological Disease.

Key elements of FXS
(A) The fragile X chromosome. The fragile site indicated by arrow.
(B) Alleles of FMR1.
(C) Important FMRP features. Nuclear localization signal (NLS) and nuclear export signal (NES). K-homology domain (KH) and Arginine-Glycine-Glycine box (RGG) indicated. Agent domains are part of a family of Tudor domains that interact with certain methylated amino acids. The scale is amino acid number.

David L. Nelson, et al. Neuron. 2013 March 6;77(5):825-843.
3.
Figure 3

Figure 3. From: The Unstable Repeats - Three Evolving Faces of Neurological Disease.

Key structural features of the androgen receptor (SBMA) and ataxin-1 (SCA1). (A) Schematic depiction of the androgen receptor protein. Features depicted are: Q)n, polymorphic polyglutamine tract; NTD, N-terminal domain; DBD, DNA binding domain; NLS, nuclear location signal; LBD, ligand binding domain; AF1, transcription activation function 1 region; AF2, transcription activation function 2 region. (B) Diagram of the Ataxin-1 protein. Features depicted are: Q)n, polymorphic polyglutamine tract; AXH, ataxin-1/HBP1 homology domain; NLS, nuclear location signal (expanded to indicate location of S776, serine 776, 14-3-3 LM, 14-3-3 binding site; ULM, binding site for RBM17 and U2AF65); SAR, self-association region; RNA binding region; CIC, binding region for Capicua.

David L. Nelson, et al. Neuron. 2013 March 6;77(5):825-843.

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