Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease

Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses

(2021) Katharina N. Russell et al.   Data in Brief

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease

(2020) Sophia-Martha kleine Holthaus et al.   HUMAN GENE THERAPY

Evaluation of Photoreceptor Transduction Efficacy of Capsid-Modified Adeno-Associated Viral Vectors Following Intravitreal and Subretinal Delivery in Sheep

(2020) Maya Ross et al.   HUMAN GENE THERAPY

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

(2019) Alfried Kohlschütter et al.   CNS DRUGS

Longitudinal in vivo monitoring of CNS demonstrates the efficacy of gene therapy in a sheep model of CLN5 Batten disease

(2018) Nadia L. Mitchell et al.   MOLECULAR THERAPY

Prevention of Photoreceptor Cell Loss in a Cln6 nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells

(2018) Sophia-Martha kleine Holthaus et al.   MOLECULAR THERAPY

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

(2018) Sara E Mole et al.   LANCET NEUROLOGY

brms: An R Package for Bayesian Multilevel Models Using Stan

(2017) Paul-Christian Bürkner   Journal of Statistical Software

Improved Intravitreal AAV-Mediated Inner Retinal Gene Transduction after Surgical Internal Limiting Membrane Peeling in Cynomolgus Monkeys

(2017) Kazuhisa Takahashi et al.   MOLECULAR THERAPY

Management Strategies for CLN2 Disease

(2017) Ruth E. Williams et al.   PEDIATRIC NEUROLOGY

Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease

(2016) Rebecca E.H. Whiting et al.   EXPERIMENTAL EYE RESEARCH

Reduced retinal transduction and enhanced transgene-directed immunogenicity with intravitreal delivery of rAAV following posterior vitrectomy in dogs

(2016) R F Boyd et al.   GENE THERAPY

Production of Recombinant Adeno-associated Virus Vectors Using Suspension HEK293 Cells and Continuous Harvest of Vector From the Culture Media for GMP FIX and FLT1 Clinical Vector

(2016) Joshua C Grieger et al.   MOLECULAR THERAPY

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

(2015) Sara E. Mole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Towards a new understanding of NCL pathogenesis

(2015) Jonathan D. Cooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Human NCL Neuropathology

(2015) Josefine Radke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Retinal gene delivery by adeno-associated virus (AAV) vectors: Strategies and applications

(2015) Christian Schön et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Photoreceptor-targeted gene delivery using intravitreally administered AAV vectors in dogs

(2015) R F Boyd et al.   GENE THERAPY

Animal modelling for inherited central vision loss

(2015) Corinne Kostic et al.   JOURNAL OF PATHOLOGY

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

(2015) Martin L. Katz et al.   Science Translational Medicine

Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh.10 Vector Expressing the Human CLN3 Gene

(2013) Dolan Sondhi et al.   HUMAN GENE THERAPY

Correction: Targeting Photoreceptors via Intravitreal Delivery Using Novel, Capsid-Mutated AAV Vectors

(2013) Christine N. Kay et al.   PLoS One

In Vivo-Directed Evolution of a New Adeno-Associated Virus for Therapeutic Outer Retinal Gene Delivery from the Vitreous

(2013) D. Dalkara et al.   Science Translational Medicine

Immunology of AAV-Mediated Gene Transfer in the Eye

(2013) Keirnan Willett et al.   Frontiers in Immunology

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism

(2011) Mia-Lisa Schmiedt et al.   NEUROBIOLOGY OF DISEASE

Improvement of Visual Performance With Intravitreal Administration of 9-cis-Retinal in Rpe65-Mutant Dogs

(2010) Patricia M. Gearhart   ARCHIVES OF OPHTHALMOLOGY

Topography of ganglion cells and photoreceptors in the sheep retina

(2010) Aya Shinozaki et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Towards a knowledge-based Human Protein Atlas

(2010) Mathias Uhlen et al.   NATURE BIOTECHNOLOGY

Inner Limiting Membrane Barriers to AAV-mediated Retinal Transduction From the Vitreous

(2009) Deniz Dalkara et al.   MOLECULAR THERAPY

Experimental determination and allometric prediction of vitreous volume, and retina and lens weights in Göttingen minipigs

(2008) Afshin Shafiee et al.   VETERINARY OPHTHALMOLOGY

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