C. Grayson

发表

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

K. Willison, P. Adamson, M. Cheetham, 2003, The Biochemical journal.

Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.

M. Cheetham, A. Hardcastle, J. Chapple, 2005, Methods in enzymology.

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Arunashree Bhamidipati, K. Willison, P. Luthert, 2002, Human molecular genetics.

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

K. Willison, M. Cheetham, A. Hardcastle, 2000, Human molecular genetics.

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

K. Willison, M. Cheetham, A. Hardcastle, 2002, Investigative ophthalmology & visual science.

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Juliet A. Ellis, D. Farber, J. Yates, 1999, Human molecular genetics.

Subclinical cognitive impairment in autosomal dominant “pure” hereditary spastic paraplegia

D. Rubinsztein, J. Rubinsztein, E. Reid, 1999, Journal of medical genetics.

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

K. Willison, A. Webster, M. Cheetham, 2001, Journal of medical genetics.

Dominant Negative Mechanism Underlies Autosomal Dominant Stargardt-like Macular Dystrophy Linked to Mutations in ELOVL4*

R. Molday, C. Grayson, 2005, Journal of Biological Chemistry.

Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey

C. Harden, E. Aycardi, D. Haubenberger, 2021, Seizure.

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

A. Toutain, J. Yates, N. Ronce, 1999, Human Genetics.

Unfolding retinal dystrophies: a role for molecular chaperones?

M. Cheetham, A. Hardcastle, J. van der Spuy, 2001, Trends in molecular medicine.

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

F. Fitzke, A. Webster, M. Cheetham, 2004, British Journal of Ophthalmology.

Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families.

D. Rubinsztein, E. Reid, M. Rogers, 1999, Brain : a journal of neurology.