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Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.

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Title: Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.
Authors: Gromova A; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Muscle Biology and Disease Research Center, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Cha B; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Nguyen N; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Garg D; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Coscolluela C; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Strickland LM; Department of Neurosurgery, Duke University, 40 Duke Medicine Circle, Durham, NC 27710, United States., Luong D; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Muscle Biology and Disease Research Center, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Longo F; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States., Sopher BL; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, 9750 3rd Ave NE, Seattle, WA, 98115, United States., ElMallah MK; Division of Pulmonary Medicine, Department of Pediatrics, Duke University, 2301 Erwin Road, Durham, NC 27710, United States., La Spada AR; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Muscle Biology and Disease Research Center, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Department of Neurosurgery, Duke University, 40 Duke Medicine Circle, Durham, NC 27710, United States.; Department of Neurology, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Department of Biological Chemistry, University of California Irvine, 825 Health Sciences Road, Irvine, CA 92697, United States.; Department of Neurobiology and Behavior, University of California Irvine, 2205 McGaugh Hall, Irvine, CA 92697, United States.; UCI Center for Neurotherapeutics, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.
Source: Human molecular genetics [Hum Mol Genet] 2025 Jul 03; Vol. 34 (14), pp. 1238-1251.
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.
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  Data: <searchLink fieldCode="AU" term="%22Gromova+A%22">Gromova A</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Muscle Biology and Disease Research Center, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Cha+B%22">Cha B</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Nguyen+N%22">Nguyen N</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Garg+D%22">Garg D</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Coscolluela+C%22">Coscolluela C</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Strickland+LM%22">Strickland LM</searchLink>; Department of Neurosurgery, Duke University, 40 Duke Medicine Circle, Durham, NC 27710, United States.<br /><searchLink fieldCode="AU" term="%22Luong+D%22">Luong D</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Muscle Biology and Disease Research Center, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Longo+F%22">Longo F</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.<br /><searchLink fieldCode="AU" term="%22Sopher+BL%22">Sopher BL</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, 9750 3rd Ave NE, Seattle, WA, 98115, United States.<br /><searchLink fieldCode="AU" term="%22ElMallah+MK%22">ElMallah MK</searchLink>; Division of Pulmonary Medicine, Department of Pediatrics, Duke University, 2301 Erwin Road, Durham, NC 27710, United States.<br /><searchLink fieldCode="AU" term="%22La+Spada+AR%22">La Spada AR</searchLink>; Department of Pathology and Laboratory Medicine, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Muscle Biology and Disease Research Center, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Department of Neurosurgery, Duke University, 40 Duke Medicine Circle, Durham, NC 27710, United States.; Department of Neurology, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.; Department of Biological Chemistry, University of California Irvine, 825 Health Sciences Road, Irvine, CA 92697, United States.; Department of Neurobiology and Behavior, University of California Irvine, 2205 McGaugh Hall, Irvine, CA 92697, United States.; UCI Center for Neurotherapeutics, University of California Irvine, 1001 Health Sciences Road, Irvine, CA 92697, United States.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1093/hmg/ddaf074
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      – TitleFull: Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.
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              Text: 2025 Jul 03
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              Y: 2025
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