Audrey L. Daugherty

Complement 3a Receptor mediates high fat diet induced hypothalamic accumulation of lipid associated microglia to regulate neuroinflammation and obesity

Jean Pierre Pallais, Maria Razzoli, Pedro Rodriguez, Seth McGonigle et autres

Microglia, the resident macrophages of the central nervous system, are recognized for their heterogeneity and integral role in brain function and diseases. In the context of high fat diet (HFD) feeding and obesity, microglia become overactive, acquiring a prevailing lipid associated microglial …

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Design and initial characterization of a novel mini-promoter for gene therapies targeting the central nervous system

Monika Chauhan, Audrey L. Daugherty, Fatemeh Khadir, Ozgun Firat Duzenli et autres

Choosing an optimal combination of adeno-associated virus (AAV) capsid and promoter is key to achieving precise, efficient, and safe gene delivery. However, the limited packaging capacity of AAV can make incorporating large transgenes with strong promoters challenging. To address this, we screened …

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The D2.B10-Dmd/J Mouse Model of Duchenne Muscular Dystrophy Exhibits a Severe Mitochondrial Deficiency Not Observed in the C57BL/10ScSn-Dmd/J Mouse

Jennifer A Tinklenberg, Jessica R. P. Sutton, Rebecca A. Slick, Hui Meng et autres

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in dystrophin deficiency in skeletal/cardiac muscle and progressive loss of function. While the genetic causes of DMD have been thoroughly investigated, the energetic consequences have not been well examined …

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The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells et autres

Heterogeneous nuclear ribonucleoproteins (hnRNPs) bind to RNA, regulating gene expression and splicing. HnRNP L contributes to muscle development and the pathogenesis of myotonic dystrophy. We hypothesized that hnRNP L regulates muscle expression and splicing patterns. Using nanopore long-read transcriptome sequencing and qPCR …

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Effects of HMG CoA reductase ( HMGCR ) deficiency on skeletal muscle development

Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells, Johnnie Turner et autres

Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and …

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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand et autres

PURPOSE: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome, or panel sequencing data sets aligned to a GRCh37, GRCh38, or T2T reference genome. METHODS: The SMA Finder algorithm detects the …

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The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure

Isabelle Draper, Wan‐Ting Huang, Suchita Pande, Aaron Zou et autres

Heart failure (HF) is highly prevalent. Mechanisms underlying HF remain incompletely understood. Splicing factors (SF), which control pre-mRNA alternative splicing, regulate cardiac structure and function. This study investigated regulation of the splicing factor heterogeneous nuclear ribonucleoprotein-L (hnRNPL) in the failing heart. hnRNPL …

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AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice

Monika Chauhan, Audrey L. Daugherty, Fatemeh Khadir, Ozgun Firat Duzenli et autres

Abstract Highly efficient adeno associated viruses (AAVs) targeting the central nervous system (CNS) are needed to deliver safe and effective therapies for inherited neurological disorders. The goal of this study was to compare the organ-specific transduction efficiencies of two AAV capsids across …

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Author response for "The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure"

Isabelle Draper, Wan‐Ting Huang, Suchita Pande, Aaron Zou et autres

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

Johnnie Turner, Christine C. Bruels, Audrey L. Daugherty, Elicia A. Estrella et autres

INTRODUCTION/AIMS: Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated …

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Author response for "The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure"

Isabelle Draper, Wan‐Ting Huang, Suchita Pande, Aaron Zou et autres

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome

Geetanjali Rajamani, Seth A. Stafki, Audrey L. Daugherty, William G. Mantyh et autres

Background and Objectives: Cockayne syndrome (CS) is an ultra-rare, autosomal recessive, premature aging disorder characterized by impaired growth, neurodevelopmental delays, neurodegeneration, polyneuropathy, and other multiorgan system complications. The anatomic aspects of CS neurodegeneration have long been known from postmortem examinations and MRI …

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