Human disorders of axon guidance

Highlights ► We review recent advances in understanding three human disorders of axon guidance. ► ROBO3 mutations cause HGPPS and hindbrain/spinal cord midline crossing defects. ► DCC mutations cause congenital mirror movements and probably midline crossing defects. ► TUBB3 mutations cause syndromic...

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Bibliographic Details
Published inCurrent opinion in neurobiology Vol. 22; no. 5; pp. 837 - 843
Main Authors Nugent, Alicia A, Kolpak, Adrianne L, Engle, Elizabeth C
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.10.2012
Subjects
Animals
Axon guidance
Axons - pathology
Axons - physiology
Cranial Nerve Diseases - genetics
Cranial Nerve Diseases - pathology
DCC Receptor
Disease Models, Animal
Fibrosis
genomics
Humans
Nervous system
Neuroimaging
Neurology
oculomotor system
Ophthalmoplegia - genetics
Ophthalmoplegia - pathology
Paralysis
Psychiatry
Receptors, Cell Surface - genetics
Receptors, Immunologic - genetics
Reviews
Scoliosis
Scoliosis - genetics
Scoliosis - pathology
Tubulin - genetics
Tumor Suppressor Proteins - genetics
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Summary:Highlights ► We review recent advances in understanding three human disorders of axon guidance. ► ROBO3 mutations cause HGPPS and hindbrain/spinal cord midline crossing defects. ► DCC mutations cause congenital mirror movements and probably midline crossing defects. ► TUBB3 mutations cause syndromic strabismus and callosal and cranial nerve defects.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
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ISSN:0959-4388
1873-6882
DOI:10.1016/j.conb.2012.02.006