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144 Possible Causes for SERCA1

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  • Myotonic Dystrophy

    […] of exon 22 of SERCA1.[doi.org] […] myotubularin related protein 1; is a member of the Tyr/dual-specificity phosphatase superfamily) and ATP2A1 (ATPase, Ca 2 transporting, cardiac muscle, fast twitch; also called SERCA1[themedicalbiochemistrypage.org] […] in the skipping of SERCA1 exon 22.[doi.org]

  • Central Core Disease

    […] to low concentrations of caffeine and halothane was higher than that observed in cells expressing wild type RyR1 and SERCA1.[ncbi.nlm.nih.gov] […] distinct staining patterns that are restricted to the cores: RyR1 protein was focally depleted within the cores, while other proteins including DHPR[alpha] 1 s, triadin, SERCA1[ncbi.nlm.nih.gov] When heterotetrameric (1:1) combinations of MH/CCD mutant and wild type RyR1 were expressed together with SERCA1 to enhance Ca2 reuptake, the amplitude of Ca2 release in response[ncbi.nlm.nih.gov]

  • Autosomal Recessive Frontotemporal Pachygyria

    Myoclonic epilepsy in non-progressive encephalopathies Myoclonic epilepsy of infancy Myoclonic-astastic epilepsy Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de]

  • Myotonia Congenita

    Odermatt A (1996) Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca 2 ATPase, are associated with Brody disease .[nature.com]

  • Alpha-Crystallinopathy

    […] dystrophy-white matter spongiosis syndrome Muscular glycogenosis Muscular lipidosis Muscular tumor Myasthenia gravis Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] […] of infancy Myoclonic-astastic epilepsy Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-dystonia syndrome Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] […] quantitative defects of protein O-mannosyltransferase 1 Qualitative or quantitative defects of protein O-mannosyltransferase 2 Qualitative or quantitative defects of protein SERCA1[se-atlas.de]

  • Sarcotubular Myopathy

    The immunohistochemical analysis has shown an intense staining with the anti-SERCA1 and SERCA2 antibodies, bot not with the other proteins of the sarcoplasmic reticulum (calsequestrin[institut-myologie.org]

  • Congenital Lethal Myopathy Type Compton-North

    […] dystrophy-white matter spongiosis syndrome Muscular glycogenosis Muscular lipidosis Muscular tumor Myasthenia gravis Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de]

  • Multicore Myopathy

    The molecular basis of cylindrical spiral myopathy is currently unknown, however a genetic mutation affecting the sarcoplasmic reticulum in some patients seems likely, as SERCA1[en.wikipedia.org]

  • Infantile Onset Autophagic Vacuolar Myopathy

    Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. Biochim Biophys Acta. 2015 Oct;1852(10 Pt A):2042-2047.[ncnp.go.jp]

  • Behr Syndrome

    Similar to Tubular aggregates Gomori trichrome: Red AMPDA: Dark NADH: Mild Menadione α-glycerophosphate Negative: SDH & COX Protein contents 2 SAR1 : Endoplasmic exit sites SERCA1[neuromuscular.wustl.edu]

Further symptoms