Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

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Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome is …
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scholarly articleQ13442814

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P819ADS bibcode2017NatCo...814907M
P6179Dimensions Publication ID1084537644
P356DOI10.1038/NCOMMS14907
P932PMC publication ID5385604
P698PubMed publication ID28387217

P50authorYeri Esther HienQ87538957
Thomas B. FriedmanQ90047439
Nathalie SansQ92468780
mireille montcouquiolQ57413911
Jonathan E BirdQ57468379
Sze Chim LeeQ57487054
Bernd NürnbergQ84393541
P2093author name stringAndrew Forge
Ronan Peyroutou
Olivier Thoumine
Sandra Beer-Hammer
Chantal Medina
Lukas Rüttiger
Jean-Michel Blanc
Aysegul Geyser
Maite M Moreau
Stephanie A Mauriac
Steve Dos-Santos Carvalho
P2860cites workEPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafnessQ21202842
A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expressionQ24305683
Mammalian Pins is a conformational switch that links NuMA to heterotrimeric G proteinsQ24313402
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing lossQ24337039
Review series: The cell biology of hearingQ24601353
The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunitsQ24810130
Assembly of hair bundles, an amazing problem for cell biologyQ26801278
Activators of G protein signaling exhibit broad functionality and define a distinct core signaling triadQ26999408
Eps8 regulates hair bundle length and functional maturation of mammalian auditory hair cellsQ27321482
Concomitant binding of Afadin to LGN and F-actin directs planar spindle orientationQ27703589
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2Q28115357
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8Q28504869
FGFR1 is required for the development of the auditory sensory epitheliumQ28513526
Elongation of hair cell stereocilia is defective in the mouse mutant whirlerQ28585988
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31Q28590107
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyQ28590821
Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cellsQ28591413
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereociliaQ28593953
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.Q30428959
Linking genes underlying deafness to hair-bundle development and functionQ30468355
Fast adaptation and Ca2+ sensitivity of the mechanotransducer require myosin-XVa in inner but not outer cochlear hair cellsQ30488481
Myosin-X induces filopodia by multiple elongation mechanismQ30494868
Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear.Q30644335
Gαi2- and Gαi3-deficient mice display opposite severity of myocardial ischemia reperfusion injuryQ33654968
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cellsQ33911618
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.Q33960515
Single-molecule discrimination of discrete perisynaptic and distributed sites of actin filament assembly within dendritic spinesQ33996037
Single particle tracking. Analysis of diffusion and flow in two-dimensional systemsQ34088040
Expression analysis and subcellular distribution of the two G-protein regulators AGS3 and LGN indicate distinct functionality. Localization of LGN to the midbody during cytokinesis.Q34113092
Myosin-X is an unconventional myosin that undergoes intrafilopodial motility.Q34115035
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.Q34469642
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorderQ34737921
An obligatory requirement for the heterotrimeric G protein Gi3 in the antiautophagic action of insulin in the liverQ35669855
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.Q35674714
Two-tiered coupling between flowing actin and immobilized N-cadherin/catenin complexes in neuronal growth conesQ35699375
The co-workers of actin filaments: from cell structures to signalsQ35887294
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeQ36017073
Theory of active transport in filopodia and stereocilia.Q36079512
The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearingQ36119739
The organization of actin filaments in the stereocilia of cochlear hair cellsQ36201573
Myosin-X: a molecular motor at the cell's fingertipsQ36248392
Regulated actin cytoskeleton assembly at filopodium tips controls their extension and retractionQ36316633
Control of actin polymerization in live and permeabilized fibroblastsQ36530088
Activity-dependent spine morphogenesis: a role for the actin-capping protein Eps8Q36661665
Growth cone advance is inversely proportional to retrograde F-actin flowQ36678110
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing lossQ36855007
Quiet as a mouse: dissecting the molecular and genetic basis of hearingQ37087936
Multi-level molecular clutches in motile cell processesQ37588949
Structural and functional discussion of the tetra-trico-peptide repeat, a protein interaction moduleQ37992235
An oblique view on the role of spindle orientation in vertebrate neurogenesis.Q38004611
Revisiting planar cell polarity in the inner ear.Q38096733
The GPSM2/LGN GoLoco motifs are essential for hearingQ40216598
Targeting of cre to the Foxg1 (BF-1) locus mediates loxP recombination in the telencephalon and other developing head structuresQ41739151
A novel form of motility in filopodia revealed by imaging myosin-X at the single-molecule levelQ41978648
Structural basis for self-renewal of neural progenitors in cortical neurogenesis.Q42130839
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.Q42455765
Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis.Q42522587
Cortical excitatory neurons and glia, but not GABAergic neurons, are produced in the Emx1-expressing lineage.Q42524386
Wavelet analysis for single molecule localization microscopyQ45814205
Preparation of the mammalian organ of Corti for scanning electron microscopyQ46625637
mPins modulates PSD-95 and SAP102 trafficking and influences NMDA receptor surface expressionQ46813527
Primary cilium migration depends on G-protein signalling control of subapical cytoskeleton.Q46854784
A link between planar polarity and staircase-like bundle architecture in hair cells.Q48255504
A molecular blueprint at the apical surface establishes planar asymmetry in cochlear hair cells.Q53086214
Rapid renewal of auditory hair bundlesQ59074461
P4510describes a project that usesImageJQ1659584
P407language of work or nameEnglishQ1860
P921main subjectChudley-McCullough syndromeQ9390217
P304page(s)14907
P577publication date2017-04-07
P1433published inNature CommunicationsQ573880
P1476titleDefective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
P478volume8

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cites work (P2860)
Q92085492GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity
Q93039419Intrinsic planar polarity mechanisms influence the position-dependent regulation of synapse properties in inner hair cells
Q92576959Molecular basis of the functions of the mammalian neuronal growth cone revealed using new methods
Q58565715Role of G-proteins and S/T phosphorylation sites in the transition of Activator of G-Protein signaling 3 to cell puncta
Q83225194Vangl2 acts at the interface between actin and N-cadherin to modulate mammalian neuronal outgrowth

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