Cargando…

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

BACKGROUND: CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. Mutations in CLN8 results in characteristic Batten disease symptom...

Descripción completa

Detalles Bibliográficos
Autores principales:	Holmes, Andrew D., White, Katherine A., Pratt, Melissa A., Johnson, Tyler B., Likhite, Shibi, Meyer, Kathrin, Weimer, Jill M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9652919/ https://www.ncbi.nlm.nih.gov/pubmed/36369162 http://dx.doi.org/10.1186/s13023-022-02564-7

Ejemplares similares

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

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

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)

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

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

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

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)

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

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

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

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)

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

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

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

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

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

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)

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

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

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)

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

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

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)

CLN8 disease caused by large genomic deletions
por: Beesley, Clare, et al.
Publicado: (2016)

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

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

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

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)

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

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)

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)

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)

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)

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)

Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging
por: Sawiak, Stephen J., 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)

Cannot write session to /tmp/vufind_sessions/sess_8ihe3sto9rlb2lg104vvuek8o6