Sentences with phrase «within huntingtin»

The progressive neurodegenerative disorder Huntington's disease (HD), which is caused by a polyglutamine repeat expansion within the huntingtin protein, is characterized by movement disorders, cognitive impairment and psychiatric symptoms.

Not exact matches

Not long after the HD gene was isolated, studies led by MacDonald, also a co-author of the current investigation, found that a variation in the number of CAG trinucleotide repeats within the HD gene, which codes for a protein called huntingtin, is the primary determinant of the age at which HD symptoms appear, with a greater number of CAG repeats associated with an earlier symptom onset.

The repeated mutation that causes Huntington's disease lies within a gene that codes for a protein called huntingtin.

The stutters produce long stretches of the amino acid glutamine in the huntingtin protein, and the resulting misshapen protein clumps up within neurons, destroying brain cells.

Normally, neurons start life deep within the developing brain, migrate out to the surface and then make a network of connections with others, but Sandrine Humbert's group showed that those without huntingtin get stuck, never making it to where they need to go.

Here, we examine wild - type huntingtin's localization in cultured cells by expressing the full - length human protein tagged with enhanced green fluorescent protein (EGFP) within its unspliced genomic context.