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Article

Transcriptome sequencing reveals aberrant alternative splicing in Huntington's disease.

Human molecular genetics - 15 Aug 2016

Lin Lan, Park Juw Won, Ramachandran Shyam, Zhang Yida, Tseng Yu-Ting, Shen Shihao, Waldvogel Henry J, Curtis Maurice A, Faull Richard L M, Troncoso Juan C, Pletnikova Olga, Ross Christopher A, Davidson Beverly L, Xing Yi

Abstract excerpt

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion in the gene-encoding Huntingtin (HTT). Transcriptome dysregulation is a major feature of HD pathogenesis, as revealed by a large body of work on gene expression profiling of tissues from human HD patients and mouse models. These studies were primarily focused on transcriptional changes affecting steady-state...

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Identifiers

PMID: 27378699
DOI: 10.1093/hmg/ddw187
PMCID: PMC5179942

Genes

HTT
PTBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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