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Article

Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression.

The Journal of clinical investigation - 1 Oct 2012

Weiss Andreas, Träger Ulrike, Wild Edward J, Grueninger Stephan, Farmer Ruth, Landles Christian, Scahill Rachael I, Lahiri Nayana, Haider Salman, Macdonald Douglas, Frost Chris, Bates Gillian P, Bilbe Graeme, Kuhn Rainer, Andre Ralph, Tabrizi Sarah J

Abstract excerpt

Huntington's disease (HD) is a fatal, inherited neurodegenerative disorder caused by an expanded CAG repeat in the gene encoding huntingtin (HTT). Therapeutic approaches to lower mutant HTT (mHTT) levels are expected to proceed to human trials, but noninvasive quantification of mHTT is not curren...

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Source

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Identifiers

PMID: 22996692
DOI: 10.1172/JCI64565
PMCID: PMC3461928

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22996692-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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