Cargando…

A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies

The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs are frequently classified as pediatric neurodegenerative diseases due to their greater pediatric prevalence. Initial clinical presentation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Geraets, Ryan D., Langin, Logan M., Cain, Jacob T., Parker, Camille M., Beraldi, Rosanna, Kovacs, Attila D., Weimer, Jill M., Pearce, David A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413059/ https://www.ncbi.nlm.nih.gov/pubmed/28464005 http://dx.doi.org/10.1371/journal.pone.0176526

Ejemplares similares

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

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

Tissue‐specific variation in nonsense mutant transcript level and drug‐induced read‐through efficiency in the Cln1 (R151X) mouse model of INCL
por: Thada, Vaughn, et al.
Publicado: (2015)

Glycerophosphoinositol is Elevated in Blood Samples From CLN3(Δex7-8) pigs, Cln3(Δex7-8) Mice, and CLN3-Affected Individuals
por: Brudvig, Jon J, et al.
Publicado: (2022)

Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water
por: Johnson, Tyler B., et al.
Publicado: (2019)

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

CLN7 gene therapy: hope for an ultra-rare condition
por: Brudvig, Jon J., et al.
Publicado: (2022)

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)

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)

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)

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

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

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)

Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease
por: Johnson, Tyler B., et al.
Publicado: (2023)

Acidified drinking water attenuates motor deficits and brain pathology in a mouse model of a childhood neurodegenerative disorder
por: Kovács, Attila D., et al.
Publicado: (2022)

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies
por: Kolicheski, A., et al.
Publicado: (2016)

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

Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant
por: Guo, Juyuan, et al.
Publicado: (2019)

Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2(R207X) mice, a model of late infantile Batten disease
por: Kovács, Attila D., et al.
Publicado: (2023)

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

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin
por: Minye, Helena M., et al.
Publicado: (2016)

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

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype
por: Soldati, Chiara, et al.
Publicado: (2021)

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis
por: Geraets, Ryan D., et al.
Publicado: (2016)

A comparative study of the degradation of yeast cyclins Cln1 and Cln2
por: Quilis, Inma, et al.
Publicado: (2016)

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

Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis
por: Murray, Samantha J, et al.
Publicado: (2023)

Timing of cognitive decline in CLN3 disease
por: Kuper, Willemijn F. E., et al.
Publicado: (2018)

in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels
por: Mohammed, Alamin, et al.
Publicado: (2017)

Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses
por: Murray, S. J., et al.
Publicado: (2022)

Sense and Nonsense in Metabolic Control of Reproduction
por: Schneider, Jill E., et al.
Publicado: (2012)

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)

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

Phenotypic variant of CLN3 mutation
por: Honasoge, Avinash, et al.
Publicado: (2022)

Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy
por: Kovacs, Kyle D., et al.
Publicado: (2021)

Viable nonsense mutants for the essential gene SUP45 of Saccharomyces cerevisiae
por: Moskalenko, Svetlana E, et al.
Publicado: (2003)

Loss of Cln3 Function in the Social Amoeba Dictyostelium discoideum Causes Pleiotropic Effects That Are Rescued by Human CLN3
por: Huber, Robert J., et al.
Publicado: (2014)

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
por: Badilla-Porras, R., et al.
Publicado: (2022)

The CLN3 gene and protein: What we know
por: Mirza, Myriam, et al.
Publicado: (2019)

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
por: von Schantz, Carina, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_f8r1o8p0tpt79aek591oke654b