(Q35039158)

5 August 2017

title

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy (English)

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Survival of motor neuron 1, telomeric

5 August 2017

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spinal muscular atrophy

1 reference

based on heuristic

inferred from title

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GOA release 2020-03-11

Kelvin See

1

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Utz Fischer

object named as

Utz Fischer

9

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Michael Sendtner

object named as

Michael Sendtner

10

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author name string

Preeti Yadav

2

1 reference

5 August 2017

Marieke Giegerich

3

1 reference

5 August 2017

Pearl S Cheong

4

1 reference

5 August 2017

Martin Graf

5

1 reference

5 August 2017

Himanshu Vyas

6

1 reference

5 August 2017

Serene G P Lee

7

1 reference

5 August 2017

Sinnakaruppan Mathavan

8

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5 August 2017

Christoph Winkler

11

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5 August 2017

language of work or name

1 reference

11 November 2013

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5 August 2017

published in

Human Molecular Genetics

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5 August 2017

volume

23

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5 August 2017

issue

7

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5 August 2017

page(s)

1754-1770

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Identification and characterization of a spinal muscular atrophy-determining gene

5 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Essential role for the SMN complex in the specificity of snRNP assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Allosteric cascade of spliceosome activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

An SMN-dependent U12 splicing event essential for motor circuit function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

SMN is required for sensory-motor circuit function in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Embryonic motor axon development in the severe SMA mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Nonsense-mediated mRNA decay effectors are essential for zebrafish embryonic development and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Binding of synaptotagmin to the alpha-latrotoxin receptor implicates both in synaptic vesicle exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

A stoichiometric complex of neurexins and dystroglycan in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Neuroligin 1: a splice site-specific ligand for beta-neurexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Extracellular domains of alpha-neurexins participate in regulating synaptic transmission by selectively affecting N- and P/Q-type Ca2+ channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

alpha-Neurexins are required for efficient transmitter release and synaptic homeostasis at the mouse neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Synaptotagmin I and II are present in distinct subsets of central synapses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Neurexins: three genes and 1001 products

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Neuronal regulation of alternative pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

The synaptic proteins β-neurexin and neuroligin synergize with extracellular matrix-binding vascular endothelial growth factor a during zebrafish vascular development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Controlling morpholino experiments: don't stop making antisense.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

SAM68 regulates neuronal activity-dependent alternative splicing of neurexin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Alternative splicing of neurexins: a role for neuronal polypyrimidine tract binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Crucial role of Drosophila neurexin in proper active zone apposition to postsynaptic densities, synaptic growth, and synaptic transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Transcriptome analysis of zebrafish embryogenesis using microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

ZebraFISH: fluorescent in situ hybridization protocol and three-dimensional imaging of gene expression patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Medial floor plate formation in zebrafish consists of two phases and requires trunk-derived Midkine-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Elevated alpha-synuclein mRNA levels in individual UV-laser-microdissected dopaminergic substantia nigra neurons in idiopathic Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Imaging protein activity in live embryos using fluorescence resonance energy transfer biosensors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Fluorescence changes of genetic calcium indicators and OGB-1 correlated with neural activity and calcium in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

Pathway selection by growth cones of identified motoneurones in live zebra fish embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT567

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT567

1 reference

release_qoyopvhc5rgejfgzpchoxami6m

5 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qoyopvhc5rgejfgzpchoxami6m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference