Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

ABSTRACT: In the past decade, we have witnessed great advances in the identification of genes underlying numerous neurodegenerative diseases and the stark complexity determining genotype-phenotype relationships that lead to the impairment, and ultimately, premature death of neurons. However, significant challenges lie ahead in understanding the pathobiological and spatiotemporal processes triggered by genetic lesions underlying neurodegenerative disorders. Neuroretinal dystrophies occupy a prominent place among neurodegenerative diseases, because of the large number and prevalence of disease-causing genes, the diverse functions, the wealth of allelic, non-allelic and clinical heterogeneities determining the phenotypic expressivity and penetrance of the disease and the ease of use of animal models to

SUBMITTER: Ferreira PA 

PROVIDER: S-EPMC1769351 | biostudies-literature | 2005 Oct

REPOSITORIES: biostudies-literature