Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

scientific article published on 01 April 2019

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.23745
P932PMC publication ID6660981
P698PubMed publication ID30932294

P50authorHeinz JungbluthQ30169368
Steven A MooreQ57690455
Susan TrevesQ69772731
P2093author name stringGiovanni Meola
Alan H Beggs
Francesco Zorzato
Francesco Muntoni
John Vissing
Faiza Noreen
Katherine D Mathews
Nicol C Voermans
Megan Meyer
Rosanna Cardani
Benno Kusters
Saskia Bulk
Casie A Genetti
Christoph Bachmann
Emma Mathews
Johanna M Fock
Primo L Schär
P2860cites workIncreased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathyQ21560937
Regulation of skeletal myogenesis by association of the MEF2 transcription factor with class II histone deacetylasesQ24290235
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathyQ24294570
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression patternQ24300028
MicroRNAs: target recognition and regulatory functionsQ24609584
MicroRNAs in skeletal myogenesisQ27690778
High-resolution profiling of histone methylations in the human genomeQ27860906
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatmentQ27863406
DNA methyltransferase Dnmt1 associates with histone deacetylase activityQ28141500
Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequencesQ28285061
Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1Q28575665
SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activityQ28585197
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiencyQ28593211
Epigenetic changes as a common trigger of muscle weakness in congenital myopathiesQ29977760
limmaGUI: a graphical user interface for linear modeling of microarray dataQ33205531
Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysisQ33759128
Inhibition of cyclin D1 kinase activity is associated with E2F-mediated inhibition of cyclin D1 promoter activity through E2F and Sp1.Q33773323
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.Q33954327
HDAC4: mechanism of regulation and biological functionsQ34039987
Regulation of histone deacetylase 4 expression by the SP family of transcription factorsQ34325666
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N geneQ34539022
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathiesQ35221453
The Effect of SERCA1b Silencing on the Differentiation and Calcium Homeostasis of C2C12 Skeletal Muscle CellsQ35499828
Histone deacetylases 1 and 2 regulate autophagy flux and skeletal muscle homeostasis in miceQ35749672
Dose-Response Analysis Using R.Q35881866
Differential expression of HDAC and HAT genes in atrophying skeletal muscleQ36469975
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.Q36811550
miRNAS in normal and diseased skeletal muscleQ37379324
HDAC1 activates FoxO and is both sufficient and required for skeletal muscle atrophyQ37674663
Voltage sensor of excitation-contraction coupling in skeletal muscleQ37767411
Core myopathiesQ37968743
Regulation of transcription of the Dnmt1 gene by Sp1 and Sp3 zinc finger proteinsQ38288017
Role of cyclooxygenase-2 induction by transcription factor Sp1 and Sp3 in neuronal oxidative and DNA damage responseQ38308983
HDAC4 protects cells from ER stress induced apoptosis through interaction with ATF4.Q39048264
The mechanism of Ca2+ transport by sarco(endo)plasmic reticulum Ca2+-ATPasesQ41635751
Electrophoretic separation of rat skeletal muscle myosin heavy-chain isoforms.Q45940714
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesQ48177089
Congenital myopathies: disorders of excitation-contraction coupling and muscle contractionQ49388884
Voltage Dependent Charge Movement in Skeletal Muscle: a Possible Step in Excitation–Contraction CouplingQ59051279
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesQ73192841
Congenital myopathiesQ86668097
P4510describes a project that useslimmaQ112236343
P433issue7
P304page(s)962-974
P577publication date2019-04-01
P1433published inHuman MutationQ5937269
P1476titleAberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
P478volume40

Reverse relations

Q92238728Cored in the act: the use of models to understand core myopathiescites workP2860