Cargando…

Glycerophosphoinositol is Elevated in Blood Samples From CLN3(Δex7-8) pigs, Cln3(Δex7-8) Mice, and CLN3-Affected Individuals

INTRODUCTION: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported, hindering clinical development of therapies....

Descripción completa

Detalles Bibliográficos
Autores principales:	Brudvig, Jon J, Swier, Vicki J, Johnson, Tyler B, Cain, Jacob C, Pratt, Melissa, Rechtzigel, Mitch, Leppert, Hannah, Dang Do, An N, Porter, Forbes D, Weimer, Jill M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9535353/ https://www.ncbi.nlm.nih.gov/pubmed/36212622 http://dx.doi.org/10.1177/11772719221107765

Ejemplares similares

Sex differences in gene expression with galactosylceramide treatment in Cln3(Δex7/8) mice
por: Makoukji, Joelle, et al.
Publicado: (2020)

Developmental Comparison of Ceramide in Wild-Type and Cln3(Δex7/8) Mouse Brains and Sera
por: El-Sitt, Sally, et al.
Publicado: (2019)

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

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

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

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

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

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)

Phenotypic variant of CLN3 mutation
por: Honasoge, Avinash, 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)

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

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)

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

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

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

Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients
por: Makoukji, Joelle, et al.
Publicado: (2015)

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

CLN8 is an ER cargo receptor that regulates lysosome biogenesis
por: di Ronza, Alberto, et al.
Publicado: (2018)

FRET-Assisted Determination of CLN3 Membrane Topology
por: Ratajczak, Ewa, et al.
Publicado: (2014)

Exogenous Flupirtine as Potential Treatment for CLN3 Disease
por: Maalouf, Katia, et al.
Publicado: (2020)

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

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

CLN7 is an organellar chloride channel regulating lysosomal function
por: Wang, Yayu, et al.
Publicado: (2021)

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

Neurofilament Light Chain Levels Correlate with Clinical Measures in CLN3 Disease
por: Dang Do, An N., et al.
Publicado: (2020)

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
por: Lopez-Fabuel, Irene, et al.
Publicado: (2022)

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

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

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

Invited editorial in regards to phenotypic variant of CLN3 mutation
por: Honasoge, Avinash, et al.
Publicado: (2022)

CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry
por: Heinl, Elena-Sofia, et al.
Publicado: (2022)

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants
por: Gao, Zhijie, et al.
Publicado: (2018)

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3(Δex1-6) mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)
por: Wavre-Shapton, Silène T., et al.
Publicado: (2015)

A novel candidate gene CLN8 regulates fat deposition in avian
por: Li, Xiaoqin, 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)

Autophagic vacuolar myopathy is a common feature of CLN3 disease
por: Radke, Josefine, et al.
Publicado: (2018)

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

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

Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population
por: Inoue, Emiko, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_2n6fiq8kunrob94hhehtkfrei2