• Publications
  • Influence
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance
TLDR
It is demonstrated that normal TUBB3 is required for axon guidance and maintenance in mammals and it is shown that the disease-associated mutations can impair tubulin heterodimer formation in vitro, although folded mutant heterodimers can still polymerize into microtubules.
Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
TLDR
In patients affected with HGPPS, mutations in the ROBO3 gene are identified, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse, and is required for hindbrain axon midline crossing.
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
TLDR
This is the first report to the authors' knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a humanHOX gene critical for development of the central nervous system.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
TLDR
It is shown that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by Kif21A, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
TLDR
A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation, and axon guidance and maintenance have recently been attributed to missense and splice-site mutations in the genes that encode α-tubulin and β- Tubulin isotypes, providing novel paradigms for understanding the biological functions of microtubules and their core components in normal health and disease.
Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders
TLDR
The study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders, including autism spectrum disorders, mental retardation, language delays and hypotonia.
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
TLDR
SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development.
Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome
TLDR
It is concluded that α2-chimaerin has a critical developmental function in ocular motor axon pathfinding in DRS families by identifying causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes α2, a Rac guanosine triphosphatase–activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice.
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?
TLDR
A structural grading system for foveal hypoplasia was developed based on the stage at which fovean development was arrested, which helps to provide a prognostic indicator for VA and is applicable in a range of disorders associated with fovea.
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
TLDR
Evidence is presented that congenital fibrosis of theextraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III.
...
1
2
3
4
5
...