• Publications
  • Influence
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in theExpand
  • 191
  • 13
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.
Macular degeneration is a heterogeneous group of disorders characterized by photoreceptor degeneration and atrophy of the retinal pigment epithelium (RPE) in the central retina. An autosomal dominantExpand
  • 163
  • 11
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal of acid load from retina and RPE is a critical function mediated byExpand
  • 76
  • 8
Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice
ELOVL4 was first identified as a disease-causing gene in Stargardt macular dystrophy (STGD3, MIM 600110.) To date, three ELOVL4 mutations have been identified, all of which result in truncatedExpand
  • 33
  • 4
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
PURPOSE To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of aExpand
  • 78
  • 3
Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.
PURPOSE Mutations in ELOVL4, a member of the fatty acid elongase (ELO) family, are responsible for autosomal dominant Stargardt-like macular degeneration. The specific role of ELOVL4 inExpand
  • 66
  • 2
Elovl4 mRNA distribution in the developing mouse retina and phylogenetic conservation of Elovl4 genes.
PURPOSE Stargardt-like macular dystrophy (STGD3) is an autosomal dominant form of early onset macular degeneration. The disease causing gene ELOVL4 encodes a protein that belongs to a family ofExpand
  • 45
  • 2
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
The human lens is a unique tissue continually evolving and ever increasing in size primarily formulated by placement of newly differentiated fibre cells in concentric lamellae. This is analogous toExpand
  • 63
  • 2
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes
Pattern dystrophy is a heterogeneous group of retinal dystrophies of which butterfly-shaped pattern dystrophy (BPD) and adult-onset foveomacular dystrophy (AOFMD) are the two most common forms. BPDExpand
  • 19
  • 2
Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability.
PURPOSE ELOVL4 is a member of the fatty acid elongase (ELO) family of genes. Mutations of this gene are responsible for autosomal dominant Stargardt-like macular degeneration. However, the specificExpand
  • 41
  • 1