Discovery of a CLN7 model of Batten disease in non-human primates

Aiello, 2009, Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis, Hum. Mutat., 30, E530, 10.1002/humu.20975 Anderson, 2013, Human pathology in NCL, Biochim. Biophys. Acta, 1832, 1807, 10.1016/j.bbadis.2012.11.014 Ashwini, 2016, Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas, Mol. Genet. Metab., 118, 326, 10.1016/j.ymgme.2016.05.008 Autti, 2007, Decreased T2 signal in the thalami may be a sign of lysosomal storage disease, Neuroradiology, 49, 571, 10.1007/s00234-007-0220-6 Baier, 2008, Are signs of ocular tilt reaction in patients with cerebellar lesions mediated by the dentate nucleus?, Brain, 131, 1445, 10.1093/brain/awn086 Batten, 1903, Cerebral degeneration with symmetrical changes in the maculae in two members of a family, Trans. Opthalmol. Soc. UK, 23, 386 Brandenstein, 2016, Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7, Hum. Mol. Genet., 25, 777, 10.1093/hmg/ddv615 C, C. F. A. H., 2009 Carcel-Trullols, J., Kovacs, A. D., & Pearce, D. A. (2015). Cell biology of the NCL proteins: What they do and don't do. Biochim. Biophys. Acta, 1852(10 Pt B), 2242-2255. doi:https://doi.org/10.1016/j.bbadis.2015.04.027. Cingolani, 2012, A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3, Fly (Austin), 6, 80, 10.4161/fly.19695 Cooper, 2015, Towards a new understanding of NCL pathogenesis, Biochim. Biophys. Acta, 1852, 2256, 10.1016/j.bbadis.2015.05.014 Craiu, 2015, Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs, Eur. J. Paediatr. Neurol., 19, 78, 10.1016/j.ejpn.2014.07.008 Damme, 2014, Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease, Neurobiol. Dis., 65, 12, 10.1016/j.nbd.2014.01.003 Depristo, 2011, A framework for variation discovery and genotyping using next-generation DNA sequencing data, Nat. Genet., 43, 491, 10.1038/ng.806 Faller, 2016, The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?, J. Neurosci. Res., 94, 339, 10.1002/jnr.23710 Guo, 2015, A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis, BMC Vet. Res., 10, 960, 10.1186/s12917-014-0181-z Hood, 2012, ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition), Doc. Ophthalmol., 124, 1, 10.1007/s10633-011-9296-8 Jankowiak, 2016, Retinal degeneration in mice deficient in the lysosomal membrane protein CLN7, Invest. Ophthalmol. Vis. Sci., 57, 4989, 10.1167/iovs.16-20158 Jenkinson, 2012, Fsl, Neuroimage, 62, 782, 10.1016/j.neuroimage.2011.09.015 Khan, 2017, Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy, Invest. Ophthalmol. Vis. Sci., 58, 2906, 10.1167/iovs.16-20608 Koilkonda, 2014, Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial, JAMA Ophthalmol., 132, 409, 10.1001/jamaophthalmol.2013.7630 Kousi, 2009, Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis, Brain, 132, 810, 10.1093/brain/awn366 Kousi, 2012, Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses, Hum. Mutat., 33, 42, 10.1002/humu.21624 Li, 2013 McGill, 2016, Elevated Fundus Autofluorescence in Monkeys Deficient in Lutein, Zeaxanthin, and Omega-3 Fatty Acids, Invest. Ophthalmol. Vis. Sci., 57, 1361, 10.1167/iovs.15-18596 McKenna, 2010, The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res., 20, 1297, 10.1101/gr.107524.110 Ostergaard, 2011, Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease), Neurology, 76, 1245, 10.1212/WNL.0b013e31821435bd Palmer, 2013, NCL disease mechanisms, Biochim. Biophys. Acta, 1832, 1882, 10.1016/j.bbadis.2013.05.014 Radke, 2015, Human NCL neuropathology, Biochim. Biophys. Acta, 1852, 2262, 10.1016/j.bbadis.2015.05.007 Shacka, 2012, Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics, Brain Res. Bull., 88, 43, 10.1016/j.brainresbull.2012.03.003 Sharifi, 2010, Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis, Hum. Mol. Genet., 19, 4497, 10.1093/hmg/ddq381 Siintola, 2007, The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter, Am. J. Hum. Genet., 81, 136, 10.1086/518902 Tamura, 2016, Head tilting elicited by head turning in three dogs with hypoplastic cerebellar nodulus and ventral uvula, Front Vet. Sci., 3, 104, 10.3389/fvets.2016.00104 Tyynela, 2004, Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation, Brain Pathol., 14, 349, 10.1111/j.1750-3639.2004.tb00077.x Van der Auwera, 2013, From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline, Curr. Protoc. Bioinforma., 43, 11 Williams, 2012, New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses, Neurology, 79, 183, 10.1212/WNL.0b013e31825f0547 Woolrich, 2009, Bayesian analysis of neuroimaging data in FSL, NeuroImage, 45, S173, 10.1016/j.neuroimage.2008.10.055 Yamaoka, 2013, Standard electrocardiographic data of young Japanese monkeys (Macaca fusucata), J. Am. Assoc. Lab. Anim. Sci., 52, 491 Zimin, 2014, A new rhesus macaque assembly and annotation for next-generation sequencing analyses, Biol. Direct, 9, 20, 10.1186/1745-6150-9-20