Publications by authors named "Jill Weimer"

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Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, Pengcheng Zhang, Aiden Eblimit, Jill M Weimer

J Clin Invest· December 2025

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Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.
Matthew P Stratton, Jessica L Centa, Vicki J Swier, Wanda L Pfeifer, Clarissa D Booth, Jill M Weimer

Nucleic Acids Res· October 2025

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Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.
Matthew P Stratton, Jessica L Centa, Vicki J Swier, Wanda L Pfeifer, Clarissa D Booth, Jill M Weimer

bioRxiv· May 2025

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Mutation in leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model.
Brandon L Meyerink, Krishna S Karia, Mitchell J Rechtzigel, Prithvi R Patthi, Ariana C Edwards, Jill M Weimer

Front Neurosci· February 2025

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Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.
Barry J Byrne, Giancarlo Parenti, Benedikt Schoser, Ans T van der Ploeg, Hung Do, Jill M Weimer

Front Neurol· January 2025

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Mutation in leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model.
Brandon L Meyerink, Krishna S Karia, Mitchell J Rechtzigel, Prithvi R Patthi, Ariana C Edwards, Jill M Weimer

bioRxiv· December 2024

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Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.
Jimin Han, Sueanne Chear, Jana Talbot, Vicki Swier, Clarissa Booth, Jill M Weimer

Invest Ophthalmol Vis Sci· November 2024

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Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.
Barry J Byrne, Giancarlo Parenti, Benedikt Schoser, Ans T van der Ploeg, Hung Do, Jill M Weimer

Front Neurol· October 2024

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Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease.
Jimin Han, Sueanne Chear, Jana Talbot, Vicki Swier, Clarissa Booth, Jill M Weimer

bioRxiv· June 2024

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NF1 miniswine model the cellular disruptions and behavioral presentations of NF1-associated cognitive and motor impairment.
Vicki J Swier, Katherine A White, Pedro L Negrão de Assis, Tyler B Johnson, Hannah G Leppert, Jill M Weimer

Clin Transl Sci· June 2024

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Comments on: Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice.
Jon J Brudvig, Steve Tuske, Jeff Castelli, Jill M Weimer

J Pharmacol Exp Ther· May 2024

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The parent and family impact of CLN3 disease: an observational survey-based study.
Angela Schulz, Nita Patel, Jon J Brudvig, Frank Stehr, Jill M Weimer

Orphanet J Rare Dis· March 2024

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Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach.
Jessica L Centa, Matthew P Stratton, Melissa A Pratt, Jenna R Osterlund Oltmanns, Douglas G Wallace, Jill M Weimer

Mol Ther Nucleic Acids· September 2023

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Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders.
Hannah G Leppert, Joelle T Anderson, Kaylie J Timm, Cristina Davoli, Melissa A Pratt, Jill M Weimer

bioRxiv· September 2023

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A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.
Vicki J Swier, Katherine A White, Tyler B Johnson, Xiaojun Wang, Jimin Han, Jill M Weimer

Dis Model Mech· August 2023

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Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
Ian Keyzor, Simon Shohet, Jeff Castelli, Sheela Sitaraman, Biliana Veleva-Rotse, Jill M Weimer

Biomolecules· August 2023

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Immune transgene-dependent myocarditis in macaques after systemic administration of adeno-associated virus expressing human acid alpha-glucosidase.
Juliette Hordeaux, Ali Ramezani, Steve Tuske, Nickita Mehta, Chunjuan Song, Jill M Weimer

Front Immunol· April 2023

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Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model.
Kevin Knoernschild, Hans J Johnson, Kimberly E Schroeder, Vicki J Swier, Katherine A White, Jill M Weimer

Sci Rep· March 2023

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Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease.
Tyler B Johnson, Jon J Brudvig, Shibi Likhite, Melissa A Pratt, Katherine A White, Jill M Weimer

Front Genet· March 2023

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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 mice.
Andrew D Holmes, Katherine A White, Melissa A Pratt, Tyler B Johnson, Shibi Likhite, Jill M Weimer

Orphanet J Rare Dis· November 2022

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A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.
Vicki J Swier, Katherine A White, Tyler B Johnson, Jessica C Sieren, Hans J Johnson, Jill M Weimer

Neurotherapeutics· October 2022

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Promoting validation and cross-phylogenetic integration in model organism research.
Keith C Cheng, Rebecca D Burdine, Mary E Dickinson, Stephen C Ekker, Alex Y Lin, Jill M Weimer

Dis Model Mech· September 2022

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Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals.
Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Jill M Weimer

Biomark Insights· June 2022

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Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment.
Mitchell J Rechtzigel, Brandon L Meyerink, Hannah Leppert, Tyler B Johnson, Jacob T Cain, Jill M Weimer

Front Neurosci· May 2022

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CLN7 gene therapy: hope for an ultra-rare condition.
Jon J Brudvig, Jill M Weimer

J Clin Invest· March 2022

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