Schematic representation of clathrin-mediated endocytosis.

<p>Plasma membrane molecules (in this case the dopamine receptor) associate with nascent clathrin-coated pits which then mature invaginate and finally pinch off to form clathrin-coated vesicles. The shedding of the coat takes place after the vesicle buds from the plasma membrane. This process is driven by Hsc70 ATP hydrolysis activity which is recruited to clathrin coats by Auxilin. The uncoated vesicle fuses with the membrane of a target compartment and delivers its cargo. Clathrin molecules are directed to the plasma membrane for re-use.</p

The c.801 −2 A−>G mutation in the DNAJC6 gene.

<p>The green arrow points at the first nucleotide of exon 7 and the mutation affects the preceding AG splice acceptor site of intron 6 which is changed to GG in the patient (A). The sequence of an obligate heterozygote is shown in (B) and that of a control in (C). Schematic representation of the mutation site at the genomic level (D) and its impact on the cDNA (E). Chromatogram of cDNA from a patient encompassing the 3′ junction of exon 6 (F) and demonstrating a transcript lacking exon 7 and another transcript where nNext to the last base of exon 6 (blue arrow) overlapping exon 8 sequence is the intronic sequences from intron 6 (c.801 −91). The normal exon 6/exon 7 spliced form is undetectable.</p