Abnormal calcium handling and its effects on muscle contraction in DMD (WP5343)

Homo sapiens

Abnormal calcium handling and its effects on muscle contraction in DMD

Authors

Tom Bausch , Javier Millán Acosta , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology

altered calcium/calcium-mediated signaling pathway disease pathway muscular disease pathway

Disease Ontology

Duchenne muscular dystrophy atrophic muscular disease muscular disease

Participants

Label Type Compact URI Comment
leukotrienes Metabolite chebi:25029
lysophospholipids Metabolite chebi:16961
Platelet activating factor Metabolite chebi:44811
IP3R Metabolite chebi:131186
Ca2+ Metabolite chebi:29108
prostaglandins Metabolite chebi:26333
Ca2+ Metabolite chebi:29108
Ca2+ Metabolite chebi:29108
Ca2+ Metabolite chebi:29108
Ca2+ Metabolite chebi:29108
Ca2+ Metabolite chebi:29108
Phospholipase A2 GeneProduct hgnc.symbol:PLA2G4B
CASQ 1 GeneProduct hgnc.symbol:CASQ1
Dystrobrevin alpha GeneProduct hgnc.symbol:DTNA
Calpain 3 GeneProduct hgnc.symbol:CAPN3
SERCA 1 GeneProduct hgnc.symbol:ATP2A1
Syntrophin beta-1 GeneProduct hgnc.symbol:SNTB1
Troponin C GeneProduct hgnc.symbol:TNNC2
alpha sarcoglycan GeneProduct hgnc.symbol:SGCA
RyR 1 GeneProduct hgnc.symbol:RYR1
Triadin GeneProduct hgnc.symbol:TRDN
Voltage gated Ca2+ channel GeneProduct hgnc.symbol:CACNG1
Sarcospan GeneProduct hgnc.symbol:SSPN
Dystrophin GeneProduct hgnc.symbol:DMD
Dystroglycan 1 GeneProduct hgnc.symbol:DAG1

References

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  2. Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins alpha-actinin and dystrophin. Sadeghi A, Doyle AD, Johnson BD. Am J Physiol Cell Physiol. 2002 Jun;282(6):C1502-11. PubMed Europe PMC Scholia
  3. Ryanodine receptor calcium release channels. Fill M, Copello JA. Physiol Rev. 2002 Oct;82(4):893–922. PubMed Europe PMC Scholia
  4. Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction. Ou Y, Strege P, Miller SM, Makielski J, Ackerman M, Gibbons SJ, et al. J Biol Chem. 2003 Jan 17;278(3):1915–23. PubMed Europe PMC Scholia
  5. Muscular dystrophies: genes to pathogenesis. Dalkilic I, Kunkel LM. Curr Opin Genet Dev. 2003 Jun;13(3):231–8. PubMed Europe PMC Scholia
  6. Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma. Chamberlain JS, Metzger J, Reyes M, Townsend D, Faulkner JA. FASEB J. 2007 Jul;21(9):2195–204. PubMed Europe PMC Scholia
  7. Regulation of sarcoplasmic reticulum Ca2+ ATPase pump expression and its relevance to cardiac muscle physiology and pathology. Periasamy M, Bhupathy P, Babu GJ. Cardiovasc Res. 2008 Jan 15;77(2):265–73. PubMed Europe PMC Scholia
  8. New roles of calsequestrin and triadin in cardiac muscle. Knollmann BC. J Physiol. 2009 Jul 1;587(Pt 13):3081–7. PubMed Europe PMC Scholia
  9. Store overload-induced Ca2+ release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes. MacLennan DH, Chen SRW. J Physiol. 2009 Jul 1;587(Pt 13):3113–5. PubMed Europe PMC Scholia
  10. Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis. Willis BC, Ponce-Balbuena D, Jalife J. Am J Physiol Heart Circ Physiol. 2015 Jun 15;308(12):H1463-73. PubMed Europe PMC Scholia
  11. Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy. Allen DG, Whitehead NP, Froehner SC. Physiol Rev. 2016 Jan;96(1):253–305. PubMed Europe PMC Scholia
  12. Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease. Hernández-Ochoa EO, Pratt SJP, Lovering RM, Schneider MF. Front Physiol. 2016 Jan 12;6:420. PubMed Europe PMC Scholia
  13. IP3 receptor blockade restores autophagy and mitochondrial function in skeletal muscle fibers of dystrophic mice. Valladares D, Utreras-Mendoza Y, Campos C, Morales C, Diaz-Vegas A, Contreras-Ferrat A, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3685–95. PubMed Europe PMC Scholia
  14. Abnormal Calcium Handling in Duchenne Muscular Dystrophy: Mechanisms and Potential Therapies. Mareedu S, Million ED, Duan D, Babu GJ. Front Physiol. 2021 Apr 9;12:647010. PubMed Europe PMC Scholia
  15. Calcium-dependent cytosolic phospholipase A2 activation is implicated in neuroinflammation and oxidative stress associated with ApoE4. Wang S, Li B, Solomon V, Fonteh A, Rapoport SI, Bennett DA, et al. Mol Neurodegener. 2022 Jun 15;17(1):42. PubMed Europe PMC Scholia