A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

(2011) Michela Raponi et al.   HUMAN MUTATION

Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma

(2011) Vidya Latha Parsam et al.   JOURNAL OF BIOSCIENCES

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

(2010) Douglas N. Sanders et al.   MOLECULAR GENETICS AND METABOLISM

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

(2010) Lucio Santoro et al.   NEUROGENETICS

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>>>A) leading to excision of exon 3

(2007) Tony Frugier et al.   NEUROBIOLOGY OF DISEASE