Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.

doi:10.1093/hmg/9.19.2799

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Article

Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.

Human molecular genetics - 22 Nov 2000

Trettel F, Rigamonti D, Hilditch-Maguire P, Wheeler V C, Sharp A H, Persichetti F, Cattaneo E, MacDonald M E

Abstract excerpt

Lengthening a glutamine tract in huntingtin confers a dominant attribute that initiates degeneration of striatal neurons in Huntington's disease (HD). To identify pathways that are candidates for the mutant protein's abnormal function, we compared striatal cell lines established from wild-type and Hdh(Q111) knock-in embryos. Alternate versions of full-length huntingtin, distinguished by epitope accessibility,...

Topics

Animals
Cell Differentiation
Cell Nucleus
Cells, Cultured
Clone Cells
Corpus Striatum
Cytoplasm
Endoplasmic Reticulum
Genes, Dominant
Golgi Apparatus
Humans
Huntingtin Protein
Huntington Disease
Iron

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Mice

Mice, Transgenic

Mutation

Nerve Tissue Proteins

Source

Open in PubMed

Identifiers

PMID: 11092756
DOI: 10.1093/hmg/9.19.2799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.