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A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain.
Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.
View Article and Find Full Text PDFRelevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.
Acta Neuropathol Commun
December 2024
Institute of Myology, Neuromuscular Morphology Unit, Sorbonne Université, INSERM, GHU Pitié-Salpêtrière, Paris, France.
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of clinical examination, morphological analyses of muscle biopsies, and genetic investigations. Here, we re-evaluated and classified a unique collection of 535 muscle biopsies from NMD infants aged 0-6 months examined over a period of 52 years.
View Article and Find Full Text PDFMorphological Evidence for a Unique Neuromuscular Functional Unit of the Human Vocalis Muscle.
Int J Mol Sci
November 2024
Institute of Functional and Clinical Anatomy, Friedrich-Alexander-Universität Erlangen-Nürnberg, Universitätstraße 19, 91054 Erlangen, Germany.
Human vocalization is a complex process that is still only partially understood. Previous studies have suggested the possibility of a localized neuromuscular network of the larynx. Here we investigate this structure in human dissection specimens using multiple immunofluorescence and transmission electron microscopy (TEM).
View Article and Find Full Text PDFLipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.
Acta Neuropathol
November 2024
Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.
Lipid storage myopathies are considered inborn errors of metabolism affecting the fatty acid metabolism and leading to accumulation of lipid droplets in the cytoplasm of muscle fibers. Specific diagnosis is based on investigation of organic aids in urine, acylcarnitines in blood and genetic testing. An acquired lipid storage myopathy in patients treated with the antidepressant drug sertraline, a serotonin reuptake inhibitor, has recently emerged as a new tentative differential diagnosis.
View Article and Find Full Text PDFDevelopmental and physiological impacts of pathogenic human huntingtin protein in the nervous system.
Neurobiol Dis
December 2024
Middle Tennessee State University, Biology Department, Murfreesboro, TN 37132, United States of America. Electronic address:
Huntington's Disease (HD) is a neurodegenerative disorder, part of the nine identified inherited polyglutamine (polyQ) diseases. Most commonly, HD pathophysiology manifests in middle-aged adults with symptoms including progressive loss of motor control, cognitive decline, and psychiatric disturbances. Associated with the pathophysiology of HD is the formation of insoluble fragments of the huntingtin protein (htt) that tend to aggregate in the nucleus and cytoplasm of neurons.
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