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Johnnie Turner

As seen in: Wiley Online Library, BioRxiv
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Articles by Johnnie Turner

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

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By Mekala Gunasekaran, Hannah R Littel, Natalya Wells, Johnnie Turner
| Wiley Online Library Verified
DMEM Dulbecco's Modified Eagle Medium GGPS1 geranylgeranyl diphosphate synthase1 HMGCR 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase HMGCS1 3-hydroxy-3-methyl-glutaryl-coenzyme A synthase1 HTSeq high throughput sequence analysis KEGG Kyoto Encyclopedia of Genes and Genomes LGMD limb-girdle muscular dystrophy MHC myosin heavy chain MTT 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide Myod myogenic differentiation 1 Myog myogenin OCR oxygen consumption rate qPCR quantitative...
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Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

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By Johnnie Turner, Christine C. Bruels, Audrey Daugherty, Elicia A. Estrella
| Wiley Online Library Verified
ACMG-AMP American College of Medical Genetics and Genomics–Association for Molecular Pathology ALS amyotrophic lateral sclerosis ATPase adenosine triphosphatase CADD combined annotation-dependent depletion DNA deoxyribonucleic acid EMG electromyography H&E hematoxylin and eosin hnRNPA1 heterogeneous nuclear ribonucleoprotein A1 IRB Institutional Review Board KD knockdown MSP multisystem proteinopathy NRES National Research Ethics Service RBP RNA-binding protein RRM RNA recognition motif WES...
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Effects of HMGCR deficiency on skeletal muscle development

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By Natalya Wells, Johnnie Turner, Mekala Gunasekaran, Hannah R Littel
| BioRxiv
Abstract 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 autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern. The mechanism linking pathogenic variants in HMGCR with skeletal muscle dysfunction is unclear.
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