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Is Huntington disease a developmental disorder?
Author(s) -
Humbert Sandrine
Publication year - 2010
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.1038/embor.2010.182
Subject(s) - huntingtin , haploinsufficiency , huntington's disease , disease , biology , huntingtin protein , neuroscience , genetics , medicine , pathology , phenotype , gene
The recently discovered roles of huntingtin in non‐differentiated cells indicate that it is a key molecule in brain development. Humbert argues that the haploinsufficiency of wild‐type huntingtin in Huntington disease might lead to various cellular alterations well before the onset of symptoms and ultimately cause disease.