Results: 2

1.
Figure 2

Figure 2. From: Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.

Mutation c.436C>G (p.Leu146Val). a) RT-PCR performed with the minigene-specific 31GF/LACT2R primers (Additional file 1, Table S1b) on cDNA transfected into Oli-neu cells. Whereas the expected PLP1 and DM20 products were present in cells transfected with the wild-type construct (WT), only the DM20 product was present in cells transfected with the patient mutant construct (Pt). No product was present in untransfected cells (U) or in the negative control lacking DNA (B). ΦX174 DNA HaeIII digest used as a marker (M). b) Real-time PCR quantification using [DM20]- [PLP]- and [DM20+PLP]-specific amplicons confirmed the altered ratio of DM20/(DM20+PLP) (blue bars) and PLP/(DM20+PLP) (red bars) in the patient carrying the mutation Leu146Val as compared to the healthy control.

Serena Grossi, et al. Orphanet J Rare Dis. 2011;6:40-40.
2.
Figure 1

Figure 1. From: Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.

Distribution of PLP1 gene mutations identified in our series of patients with PLP1-related disorders in relation to the proposed model* of the tetra-span proteolipid proteins, PLP and DM20. With respect to the missense mutations reported here, the amino acid residues affected by novel mutations are shown in purple, whereas residues harbouring previously reported mutations are given in green. The four predicted transmembrane domains (TMD1-4) are depicted, the first and last amino acids being indicated for each TMD. The PLP1-specific region (which is absent from DM20) is denoted by a dotted line. The locations of the two disulfide bridges (Cys184-Cys228 and Cys201-Cys220) within loop B (LB) are marked "S--S". The double arrow indicates the relative placement of the exon-exon (Ex) junctions superimposed upon the PLP1 protein. *model according to Popot et al, [36] and Weimbs and Stoffel [37]

Serena Grossi, et al. Orphanet J Rare Dis. 2011;6:40-40.

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