Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome

Parthiv Haldipur; Kathleen J Millen

doi:10.7554/eLife.01873

Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome

Elife. 2013 Dec 24:2:e01873. doi: 10.7554/eLife.01873.

Authors

Parthiv Haldipur¹, Kathleen J Millen

Affiliation

¹ Parthiv Haldipur is in the Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, United States [email protected].

Abstract

Long predicted from studies of model vertebrates, the first human example of abnormal patterning of the early neural tube leading to underdevelopment of the cerebellum has been demonstrated.

Keywords: CHARGE syndrome; CHD7; Cerebellar malformation; FGF8; OTX2/GBX2; cerebellum.

Publication types

Comment

MeSH terms

Animals
CHARGE Syndrome / metabolism*
Cerebellar Vermis / metabolism*
Fibroblast Growth Factor 8 / metabolism*
Homeodomain Proteins / metabolism*
Humans
Otx Transcription Factors / metabolism*

Substances

Fgf8 protein, mouse
Gbx2 protein, mouse
Homeodomain Proteins
Otx Transcription Factors
Otx2 protein, mouse
Fibroblast Growth Factor 8

Grants and funding

R01 NS072441/NS/NINDS NIH HHS/United States