Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

scientific article published on 09 January 2013

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/EJHG.2012.293
P932PMC publication ID3746269
P698PubMed publication ID23299920
P5875ResearchGate publication ID234089540

P50authorHelgi B. SchiöthQ30112644
Galina Y. ZheleznyakovaQ55743375
Sarah VoisinQ55743382
Anton V KiselevQ59684258
Miguel J XavierQ59709539
P2093author name stringRobert Fredriksson
Markus Sällman Almén
Vladislav S Baranov
Marianna A Maretina
Lyudmila I Tishchenko
P2860cites workBioconductor: open software development for computational biology and bioinformaticsQ21194861
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scoredQ24607390
A positive modifier of spinal muscular atrophy in the SMN2 geneQ24646149
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibitionQ24655533
In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation proteinQ28116617
Vitamin C transport systems of mammalian cellsQ28200824
Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surfaceQ28204090
The Rab6 GTPase regulates recruitment of the dynactin complex to Golgi membranesQ28210963
Survival motor neuron protein facilitates assembly of stress granulesQ28276466
Profilin2 contributes to synaptic vesicle exocytosis, neuronal excitability, and novelty-seeking behaviorQ28592417
Identification of survival motor neuron as a transcriptional activator-binding protein.Q33292104
Myelination and regional domain differentiation of the axonQ33666278
Dynamic changes in the human methylome during differentiationQ33736539
Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysisQ33759128
Conserved genes act as modifiers of invertebrate SMN loss of function defectsQ33760559
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and IIIQ33962485
Batch effect correction for genome-wide methylation data with Illumina Infinium platformQ34101704
Genome wide analysis reveals association of a FTO gene variant with epigenetic changesQ34123271
Multiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseasesQ34225670
Traffic control: Rab GTPases and the regulation of interorganellar transport.Q34272603
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophyQ34353103
Rabs grab motors: defining the connections between Rab GTPases and motor proteinsQ34495175
Possible functional role of NSPs in cancerQ34819123
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.Q35567371
Is spinal muscular atrophy the result of defects in motor neuron processes?Q36233926
Neuronal apoptosis in neurodegenerationQ36850374
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophyQ37006949
Vitamin C transport and its role in the central nervous systemQ37049595
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy miceQ37352940
CpG islands--'a rough guide'.Q37450048
Actin in axons: stable scaffolds and dynamic filamentsQ37543120
Rho and Ras GTPases in axon growth, guidance, and branchingQ37698277
Dynamics of the Rho-family small GTPases in actin regulation and motilityQ37823095
Implication of rho GTPases in neurodegenerative diseasesQ37874319
Double edge: CDK2AP1 in cell-cycle regulation and epigenetic regulationQ37921992
NSP 5a3a: a potential novel cancer target in head and neck carcinomaQ39594325
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.Q39688596
Valproate induces replication-independent active DNA demethylationQ40647716
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classificationsQ40986555
The neuroprotective factor Wld(s) fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophyQ43143539
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?Q44068875
Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinomaQ45303840
Promoter hypermethylation in circulating blood cells identifies prostate cancer progressionQ46931948
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.Q47073257
SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.Q48586391
Apoptosis, proliferation and p12(doc-1) profiles in normal, dysplastic and malignant squamous epithelium of the Syrian hamster cheek pouch model.Q52545945
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.Q52598269
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.Q54560146
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.Q54656854
Rab and actomyosin-dependent fission of transport vesicles at the Golgi complex.Q55053004
Vitamin C transport systems of mammalian cellsQ55920872
Reversible molecular pathology of skeletal muscle in spinal muscular atrophyQ57389994
Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular AtrophyQ58794833
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)Q67481178
Subcellular distribution of survival motor neuron (SMN) protein: possible involvement in nucleocytoplasmic and dendritic transportQ78163657
Unaffected patients with a homozygous absence of the SMN1 geneQ80863125
Evaluation of the Infinium Methylation 450K technologyQ82726350
Abolishing Bax-dependent apoptosis shows beneficial effects on spinal muscular atrophy model miceQ82968102
P4510describes a project that useslimmaQ112236343
P433issue9
P921main subjectspinal muscular atrophyQ580290
genome-wide association studyQ1098876
muscular atrophyQ2844600
P304page(s)988-993
P577publication date2013-01-09
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleGenome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity
P478volume21

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cites work (P2860)
Q36456987Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy
Q93088149Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy
Q91784761Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
Q39127494Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors
Q47140062Genome-wide 5-hydroxymethylcytosine patterns in human spermatogenesis are associated with semen quality.
Q35231001Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity.
Q35540393Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents
Q90674893Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates