Cargando…

Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging

Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration. It starts insidiously and leads to blindness, epilepsy and dementia in affected children. Sheep t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sawiak, Stephen J., Perumal, Sunthara Rajan, Rudiger, Skye R., Matthews, Loren, Mitchell, Nadia L., McLaughlan, Clive J., Bawden, C. Simon, Palmer, David N., Kuchel, Timothy, Morton, A. Jennifer
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498759/ https://www.ncbi.nlm.nih.gov/pubmed/26161747 http://dx.doi.org/10.1371/journal.pone.0132331

Ejemplares similares

Molecular neuropathology of the synapse in sheep with CLN5 Batten disease
por: Amorim, Inês S., et al.
Publicado: (2015)

Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep
por: Perentos, Nicholas, et al.
Publicado: (2015)

Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease
por: Mitchell, Nadia L., et al.
Publicado: (2023)

Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease
por: Murray, Samantha J., et al.
Publicado: (2023)

Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid lipofuscinosis (Batten disease)
por: Barry, Lucy Anne, et al.
Publicado: (2022)

The Batten disease gene CLN3 is required for the response to oxidative stress
por: Tuxworth, Richard I., et al.
Publicado: (2011)

Efficacy of phosphodiesterase‐4 inhibitors in juvenile Batten disease (CLN3)
por: Aldrich, Amy, et al.
Publicado: (2016)

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)
por: Wager, Kim, et al.
Publicado: (2016)

Discovery of a CLN7 model of Batten disease in non-human primates
por: McBride, Jodi L., et al.
Publicado: (2018)

Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease
por: Cain, Jacob T., et al.
Publicado: (2019)

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy
por: Thompson, Dorothy A., et al.
Publicado: (2021)

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation
por: Kuper, Willemijn F. E., et al.
Publicado: (2020)

A tailored Cln3(Q352X) mouse model for testing therapeutic interventions in CLN3 Batten disease
por: Langin, Logan, et al.
Publicado: (2020)

Osmotic Stress Changes the Expression and Subcellular Localization of the Batten Disease Protein CLN3
por: Getty, Amanda, et al.
Publicado: (2013)

Searching for novel biomarkers using a mouse model of CLN3-Batten disease
por: Timm, Derek, et al.
Publicado: (2018)

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease
por: Poppens, McKayla J., et al.
Publicado: (2019)

Correction: An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy
por: Thompson, Dorothy A., et al.
Publicado: (2021)

The Batten disease protein CLN3 is important for stress granules dynamics and translational activity
por: Relton, Emily L., et al.
Publicado: (2023)

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes
por: Swier, Vicki J., et al.
Publicado: (2023)

Metabolic profiling of presymptomatic Huntington’s disease sheep reveals novel biomarkers
por: Skene, Debra J., et al.
Publicado: (2017)

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways
por: Tuxworth, Richard I., et al.
Publicado: (2009)

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model
por: Knoernschild, Kevin, et al.
Publicado: (2023)

Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach
por: Centa, Jessica L., et al.
Publicado: (2023)

Metabolic disruption identified in the Huntington’s disease transgenic sheep model
por: Handley, Renee. R., et al.
Publicado: (2016)

A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
por: Tang, Cynthia, et al.
Publicado: (2021)

Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease)
por: Nonkes, Lourens J. P., et al.
Publicado: (2021)

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation
por: Calcagni’, Alessia, et al.
Publicado: (2023)

Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein mutated in juvenile Batten disease
por: Nelson, Tarah, et al.
Publicado: (2017)

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy
por: Wright, Genevieve A., et al.
Publicado: (2020)

Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family
por: Honingh, Aline K., et al.
Publicado: (2022)

Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses
por: Russell, Katharina N., et al.
Publicado: (2021)

Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function
por: Orlin, Anton, et al.
Publicado: (2013)

Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender
por: Kovács, Attila D., et al.
Publicado: (2015)

Extracellular Vesicles as Drug Carriers for Enzyme Replacement Therapy to Treat CLN2 Batten Disease: Optimization of Drug Administration Routes
por: Haney, Matthew J., et al.
Publicado: (2020)

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience
por: Krantz, Mattias, et al.
Publicado: (2022)

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8(mnd) mice
por: Holmes, Andrew D., et al.
Publicado: (2022)

Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
por: Sindelar, Miriam, et al.
Publicado: (2018)

Modulation of CRMP2 via (S)-Lacosamide shows therapeutic promise but is ultimately ineffective in a mouse model of CLN6-Batten disease
por: White, Katherine A., et al.
Publicado: (2019)

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice
por: White, Katherine A., et al.
Publicado: (2021)

Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics
por: Rowe, Ashley A., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_h252f40kppaoub1mk0n1q11i8l